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2. Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.

Author

Vollstedt, E.J., Madoev, H., Aasly, A., Ahmad-Annuar, A., Al-Mubarak, B., Alcalay, R.N., Alvarez, V., Amorin, I., Annesi, G., Arkadir, D., Bardien, S., Barker, R.A., Barkhuizen, M., Basak, A.N., Bonifati, V., Boon, A., Brighina, L., Brockmann, K., Carmine Belin, A., Carr, J., Clarimon, J., Cornejo-Olivas, M., Correia Guedes, L., Corvol, J.C., Crosiers, D., Damásio, J., Das, P., Carvalho Aguiar, P. de, Rosa, A. De, Dorszewska, J., Ertan, S., Ferese, R., Ferreira, J., Gatto, E., Genç, G., Giladi, N., Gómez-Garre, P., Hanagasi, H., Hattori, N., Hentati, F., Hoffman-Zacharska, D., Illarioshkin, S.N., Jankovic, J., Jesús, S., Kaasinen, V., Kievit, A., Klivenyi, P., Kostic, V., Koziorowski, D., Kühn, A.A., Lang, A.E., Lim, S.Y., Lin, Chih-Yu, Lohmann, K., Markovic, V., Martikainen, M.H., Mellick, G., Merello, M., Milanowski, L., Mir, P., Öztop-Çakmak, Ö., Pimentel, M.M.G., Pulkes, T., Puschmann, A., Rogaeva, E., Sammler, E.M., Skaalum Petersen, M., Skorvanek, M., Spitz, M., Suchowersky, O., Tan, A.H., Termsarasab, P., Thaler, Avner, Tumas, V., Valente, E.M., Warrenburg, B.P.C. van de, Williams-Gray, C.H., Wu, R.M., Zhang, B., Zimprich, A., Solle, J., Padmanabhan, S., Klein, Christine, Vollstedt, E.J., Madoev, H., Aasly, A., Ahmad-Annuar, A., Al-Mubarak, B., Alcalay, R.N., Alvarez, V., Amorin, I., Annesi, G., Arkadir, D., Bardien, S., Barker, R.A., Barkhuizen, M., Basak, A.N., Bonifati, V., Boon, A., Brighina, L., Brockmann, K., Carmine Belin, A., Carr, J., Clarimon, J., Cornejo-Olivas, M., Correia Guedes, L., Corvol, J.C., Crosiers, D., Damásio, J., Das, P., Carvalho Aguiar, P. de, Rosa, A. De, Dorszewska, J., Ertan, S., Ferese, R., Ferreira, J., Gatto, E., Genç, G., Giladi, N., Gómez-Garre, P., Hanagasi, H., Hattori, N., Hentati, F., Hoffman-Zacharska, D., Illarioshkin, S.N., Jankovic, J., Jesús, S., Kaasinen, V., Kievit, A., Klivenyi, P., Kostic, V., Koziorowski, D., Kühn, A.A., Lang, A.E., Lim, S.Y., Lin, Chih-Yu, Lohmann, K., Markovic, V., Martikainen, M.H., Mellick, G., Merello, M., Milanowski, L., Mir, P., Öztop-Çakmak, Ö., Pimentel, M.M.G., Pulkes, T., Puschmann, A., Rogaeva, E., Sammler, E.M., Skaalum Petersen, M., Skorvanek, M., Spitz, M., Suchowersky, O., Tan, A.H., Termsarasab, P., Thaler, Avner, Tumas, V., Valente, E.M., Warrenburg, B.P.C. van de, Williams-Gray, C.H., Wu, R.M., Zhang, B., Zimprich, A., Solle, J., Padmanabhan, S., and Klein, Christine

Abstract

Item does not contain fulltext, Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genetic risk factor. However, the vast majority of our present data on monogenic PD is based on the investigation of patients of European White ancestry, leaving a large knowledge gap on monogenic PD in underrepresented populations. Gene-targeted therapies are being developed at a fast pace and have started entering clinical trials. In light of these developments, building a global network of centers working on monogenic PD, fostering collaborative research, and establishing a clinical trial-ready cohort is imperative. Based on a systematic review of the English literature on monogenic PD and a successful team science approach, we have built up a network of 59 sites worldwide and have collected information on the availability of data, biomaterials, and facilities. To enable access to this resource and to foster collaboration across centers, as well as between academia and industry, we have developed an interactive map and online tool allowing for a quick overview of available resources, along with an option to filter for specific items of interest. This initiative is currently being merged with the Global Parkinson's Genetics Program (GP2), which will attract additional centers with a focus on underrepresented sites. This growing resource and tool will facilitate collaborative research and impact the development and testing of new therapies for monogenic and potentially for idiopathic PD patients.

Published
2023

6. Illusional perspective across humans and bees

Author

Gatto, E. (Elia), Loukola, O. J. (Olli J.), Petrazzini, M. E. (Maria Elena Miletto), Agrillo, C. (Christian), Cutini, S. (Simone), Gatto, E. (Elia), Loukola, O. J. (Olli J.), Petrazzini, M. E. (Maria Elena Miletto), Agrillo, C. (Christian), and Cutini, S. (Simone)

Abstract

For two centuries, visual illusions have attracted the attention of neurobiologists and comparative psychologists, given the possibility of investigating the complexity of perceptual mechanisms by using relatively simple patterns. Animal models, such as primates, birds, and fish, have played a crucial role in understanding the physiological circuits involved in the susceptibility of visual illusions. However, the comprehension of such mechanisms is still a matter of debate. Despite their different neural architectures, recent studies have shown that some arthropods, primarily Hymenoptera and Diptera, experience illusions similar to those humans do, suggesting that perceptual mechanisms are evolutionarily conserved among species. Here, we review the current state of illusory perception in bees. First, we introduce bees’ visual system and speculate which areas might make them susceptible to illusory scenes. Second, we review the current state of knowledge on misperception in bees (Apidae), focusing on the visual stimuli used in the literature. Finally, we discuss important aspects to be considered before claiming that a species shows higher cognitive ability while equally supporting alternative hypotheses. This growing evidence provides insights into the evolutionary origin of visual mechanisms across species.

Published
2022

7. Quantitative abilities of invertebrates:a methodological review

Author

Gatto, E. (Elia), Loukola, O. J. (Olli J.), Agrillo, C. (Christian), Gatto, E. (Elia), Loukola, O. J. (Olli J.), and Agrillo, C. (Christian)

Abstract

Quantitative abilities are widely recognized to play important roles in several ecological contexts, such as foraging, mate choice, and social interaction. Indeed, such abilities are widespread among vertebrates, in particular mammals, birds, and fish. Recently, there has been an increasing number of studies on the quantitative abilities of invertebrates. In this review, we present the current knowledge in this field, especially focusing on the ecological relevance of the capacity to process quantitative information, the similarities with vertebrates, and the different methods adopted to investigate this cognitive skill. The literature argues, beyond methodological differences, a substantial similarity between the quantitative abilities of invertebrates and those of vertebrates, supporting the idea that similar ecological pressures may determine the emergence of similar cognitive systems even in distantly related species.

Published
2022

9. Using global team science to identify genetic parkinson's disease worldwide

Author

Vollstedt, E, Kasten, M, Klein, C, Aasly, J, Adler, C, Ahmad-Annuar, A, Albanese, A, Alcalay, R, Al-Mubarak, B, Alvarez, V, Andree-Munoz, B, Annesi, G, Appel-Cresswell, S, Arkadir, D, Armasu, S, Barber, T, Bardien, S, Barkhuizen, M, Barrett, M, Basak, A, Beach, T, Benitez, B, Berg, D, Bhatia, K, Binkofski, F, Blauwendraat, C, Bonifati, V, Borges, V, Bozi, M, Brice, A, Brighina, L, Brockmann, K, Brucke, T, Bruggemann, N, Camacho, M, Cardoso, F, Belin, A, Carr, J, Chan, P, Chang-Castello, J, Chase, B, Chen-Plotkin, A, Ju Chung, S, Cilia, R, Clarimon, J, Clark, L, Cornejo-Olivas, M, Corvol, J, Cosentino, C, Cras, P, Crosiers, D, Damasio, J, Das, P, de Carvalho Aguiar, P, De Michele, G, De Rosa, A, Dieguez, E, Dorszewska, J, Erer, S, Ertan, S, Farrer, M, Fedotova, E, Ferese, R, Ferrarese, C, Ferraz, H, Fiala, O, Foroud, T, Friedman, A, Frigerio, R, Funayama, M, Gambardella, S, Garraux, G, Gatto, E, Genc, G, Giladi, N, Goldwurm, S, Gomez-Esteban, J, Gomez-Garre, P, Gorostidi, A, Grosset, D, Hanagasi, H, Hardy, J, Hassan, A, Hattori, N, Hauser, R, Hedera, P, Hentati, F, Hertz, J, Holton, J, Houlden, H, Hutz, M, Ikeuchi, T, Illarioshkin, S, Inca-Martinez, M, Infante, J, Jankovic, J, Jeon, B, Jesus, S, Jimenez-Del-Rio, M, Kaasinen, V, Kataoka, H, Kawakami, H, Kim, Y, Klivenyi, P, Koks, S, Konig, I, Kostic, V, Koziorowski, D, Kruger, R, Krygowska-Wajs, A, Kulisevsky, J, Lai, D, Lang, A, Ledoux, M, Lesage, S, Lim, S, Lin, C, Lohmann, K, Lopera, F, Lopez, G, Lu, C, Lynch, T, Machaczka, M, Madoev, H, Magalhaes, M, Majamaa, K, Maraganore, D, Marder, K, Markopoulou, K, Martikainen, M, Mata, I, Mazzetti, P, Mellick, G, Menendez-Gonzalez, M, Micheli, F, Mirelman, A, Mir, P, Morino, H, Morris, H, Munhoz, R, Naito, A, Olszewska, D, Ozelius, L, Padmanabhan, S, Paisan-Ruiz, C, Payami, H, Peluso, S, Petkovic, S, Petrucci, S, Pezzoli, G, Pimentel, M, Pirker, W, Pramstaller, P, Pulkes, T, Puschmann, A, Quattrone, A, Raggio, V, Ransmayr, G, Rieder, C, Riess, O, Rodriguez-Porcel, F, Rogaeva, E, Ross, O, Ruiz-Martinez, J, Sammler, E, San Luciano, M, Satake, W, Saunders-Pullman, R, Sazci, A, Scherzer, C, Schrag, A, Schumacher-Schuh, A, Sharma, M, Sidransky, E, Singleton, A, Petersen, M, Smolders, S, Spitz, M, Stefanis, L, Struhal, W, Sue, C, Swan, M, Swanberg, M, Taba, P, Taipa, R, Tan, M, Tan, A, Tan, E, Tang, B, Tayebi, N, Thaler, A, Thomas, A, Toda, T, Toft, M, Torres, L, Tumas, V, Valente, E, Van Broeckhoven, C, Vecsei, L, Velez-Pardo, C, Vidailhet, M, Warner, T, Williams-Gray, C, Winkelmann, J, Woitalla, D, Wood, N, Wszolek, Z, Wu, R, Wu, Y, Xie, T, Yoshino, H, Zhang, B, Zimprich, A, Vollstedt E. -J., Kasten M., Klein C., Aasly J., Adler C., Ahmad-Annuar A., Albanese A., Alcalay R. N., Al-Mubarak B., Alvarez V., Andree-Munoz B., Annesi G., Appel-Cresswell S., Arkadir D., Armasu S., Barber T. R., Bardien S., Barkhuizen M., Barrett M. J., Basak A. N., Beach T., Benitez B. A., Berg D., Bhatia K., Binkofski F., Blauwendraat C., Bonifati V., Borges V., Bozi M., Brice A., Brighina L., Brockmann K., Brucke T., Bruggemann N., Camacho M., Cardoso F., Belin A. C., Carr J., Chan P., Chang-Castello J., Chase B., Chen-Plotkin A., Ju Chung S., Cilia R., Clarimon J., Clark L., Cornejo-Olivas M., Corvol J. -C., Cosentino C., Cras P., Crosiers D., Damasio J., Das P., de Carvalho Aguiar P., De Michele G., De Rosa A., Dieguez E., Dorszewska J., Erer S., Ertan S., Farrer M., Fedotova E., Ferese R., Ferrarese C., Ferraz H., Fiala O., Foroud T., Friedman A., Frigerio R., Funayama M., Gambardella S., Garraux G., Gatto E. M., Genc G., Giladi N., Goldwurm S., Gomez-Esteban J. C., Gomez-Garre P., Gorostidi A., Grosset D., Hanagasi H., Hardy J., Hassan A., Hattori N., Hauser R. A., Hedera P., Hentati F., Hertz J. M., Holton J. L., Houlden H., Hutz M. H., Ikeuchi T., Illarioshkin S., Inca-Martinez M., Infante J., Jankovic J., Jeon B. S., Jesus S., Jimenez-Del-Rio M., Kaasinen V., Kataoka H., Kawakami H., Kim Y. J., Klivenyi P., Koks S., Konig I. R., Kostic V., Koziorowski D., Kruger R., Krygowska-Wajs A., Kulisevsky J., Lai D., Lang A., LeDoux M., Lesage S., Lim S. -Y., Lin C. -H., Lohmann K., Lopera F., Lopez G., Lu C. -S., Lynch T., Machaczka M., Madoev H., Magalhaes M., Majamaa K., Maraganore D., Marder K., Markopoulou K., Martikainen M. H., Mata I., Mazzetti P., Mellick G., Menendez-Gonzalez M., Micheli F., Mirelman A., Mir P., Morino H., Morris H., Munhoz R. P., Naito A., Olszewska D. A., Ozelius L. J., Padmanabhan S., Paisan-Ruiz C., Payami H., Peluso S., Petkovic S., Petrucci S., Pezzoli G., Pimentel M., Pirker W., Pramstaller P. P., Pulkes T., Puschmann A., Quattrone A., Raggio V., Ransmayr G., Rieder C., Riess O., Rodriguez-Porcel F., Rogaeva E., Ross O. A., Ruiz-Martinez J., Sammler E., San Luciano M., Satake W., Saunders-Pullman R., Sazci A., Scherzer C., Schrag A., Schumacher-Schuh A., Sharma M., Sidransky E., Singleton A. B., Petersen M. S., Smolders S., Spitz M., Stefanis L., Struhal W., Sue C. M., Swan M., Swanberg M., Taba P., Taipa R., Tan M., Tan A. H., Tan E. -K., Tang B., Tayebi N., Thaler A., Thomas A., Toda T., Toft M., Torres L., Tumas V., Valente E. M., Van Broeckhoven C., Vecsei L., Velez-Pardo C., Vidailhet M., Warner T. T., Williams-Gray C. H., Winkelmann J., Woitalla D., Wood N. W., Wszolek Z. K., Wu R. -M., Wu Y. -R., Xie T., Yoshino H., Zhang B., Zimprich A., Vollstedt, E, Kasten, M, Klein, C, Aasly, J, Adler, C, Ahmad-Annuar, A, Albanese, A, Alcalay, R, Al-Mubarak, B, Alvarez, V, Andree-Munoz, B, Annesi, G, Appel-Cresswell, S, Arkadir, D, Armasu, S, Barber, T, Bardien, S, Barkhuizen, M, Barrett, M, Basak, A, Beach, T, Benitez, B, Berg, D, Bhatia, K, Binkofski, F, Blauwendraat, C, Bonifati, V, Borges, V, Bozi, M, Brice, A, Brighina, L, Brockmann, K, Brucke, T, Bruggemann, N, Camacho, M, Cardoso, F, Belin, A, Carr, J, Chan, P, Chang-Castello, J, Chase, B, Chen-Plotkin, A, Ju Chung, S, Cilia, R, Clarimon, J, Clark, L, Cornejo-Olivas, M, Corvol, J, Cosentino, C, Cras, P, Crosiers, D, Damasio, J, Das, P, de Carvalho Aguiar, P, De Michele, G, De Rosa, A, Dieguez, E, Dorszewska, J, Erer, S, Ertan, S, Farrer, M, Fedotova, E, Ferese, R, Ferrarese, C, Ferraz, H, Fiala, O, Foroud, T, Friedman, A, Frigerio, R, Funayama, M, Gambardella, S, Garraux, G, Gatto, E, Genc, G, Giladi, N, Goldwurm, S, Gomez-Esteban, J, Gomez-Garre, P, Gorostidi, A, Grosset, D, Hanagasi, H, Hardy, J, Hassan, A, Hattori, N, Hauser, R, Hedera, P, Hentati, F, Hertz, J, Holton, J, Houlden, H, Hutz, M, Ikeuchi, T, Illarioshkin, S, Inca-Martinez, M, Infante, J, Jankovic, J, Jeon, B, Jesus, S, Jimenez-Del-Rio, M, Kaasinen, V, Kataoka, H, Kawakami, H, Kim, Y, Klivenyi, P, Koks, S, Konig, I, Kostic, V, Koziorowski, D, Kruger, R, Krygowska-Wajs, A, Kulisevsky, J, Lai, D, Lang, A, Ledoux, M, Lesage, S, Lim, S, Lin, C, Lohmann, K, Lopera, F, Lopez, G, Lu, C, Lynch, T, Machaczka, M, Madoev, H, Magalhaes, M, Majamaa, K, Maraganore, D, Marder, K, Markopoulou, K, Martikainen, M, Mata, I, Mazzetti, P, Mellick, G, Menendez-Gonzalez, M, Micheli, F, Mirelman, A, Mir, P, Morino, H, Morris, H, Munhoz, R, Naito, A, Olszewska, D, Ozelius, L, Padmanabhan, S, Paisan-Ruiz, C, Payami, H, Peluso, S, Petkovic, S, Petrucci, S, Pezzoli, G, Pimentel, M, Pirker, W, Pramstaller, P, Pulkes, T, Puschmann, A, Quattrone, A, Raggio, V, Ransmayr, G, Rieder, C, Riess, O, Rodriguez-Porcel, F, Rogaeva, E, Ross, O, Ruiz-Martinez, J, Sammler, E, San Luciano, M, Satake, W, Saunders-Pullman, R, Sazci, A, Scherzer, C, Schrag, A, Schumacher-Schuh, A, Sharma, M, Sidransky, E, Singleton, A, Petersen, M, Smolders, S, Spitz, M, Stefanis, L, Struhal, W, Sue, C, Swan, M, Swanberg, M, Taba, P, Taipa, R, Tan, M, Tan, A, Tan, E, Tang, B, Tayebi, N, Thaler, A, Thomas, A, Toda, T, Toft, M, Torres, L, Tumas, V, Valente, E, Van Broeckhoven, C, Vecsei, L, Velez-Pardo, C, Vidailhet, M, Warner, T, Williams-Gray, C, Winkelmann, J, Woitalla, D, Wood, N, Wszolek, Z, Wu, R, Wu, Y, Xie, T, Yoshino, H, Zhang, B, Zimprich, A, Vollstedt E. -J., Kasten M., Klein C., Aasly J., Adler C., Ahmad-Annuar A., Albanese A., Alcalay R. N., Al-Mubarak B., Alvarez V., Andree-Munoz B., Annesi G., Appel-Cresswell S., Arkadir D., Armasu S., Barber T. R., Bardien S., Barkhuizen M., Barrett M. J., Basak A. N., Beach T., Benitez B. A., Berg D., Bhatia K., Binkofski F., Blauwendraat C., Bonifati V., Borges V., Bozi M., Brice A., Brighina L., Brockmann K., Brucke T., Bruggemann N., Camacho M., Cardoso F., Belin A. C., Carr J., Chan P., Chang-Castello J., Chase B., Chen-Plotkin A., Ju Chung S., Cilia R., Clarimon J., Clark L., Cornejo-Olivas M., Corvol J. -C., Cosentino C., Cras P., Crosiers D., Damasio J., Das P., de Carvalho Aguiar P., De Michele G., De Rosa A., Dieguez E., Dorszewska J., Erer S., Ertan S., Farrer M., Fedotova E., Ferese R., Ferrarese C., Ferraz H., Fiala O., Foroud T., Friedman A., Frigerio R., Funayama M., Gambardella S., Garraux G., Gatto E. M., Genc G., Giladi N., Goldwurm S., Gomez-Esteban J. C., Gomez-Garre P., Gorostidi A., Grosset D., Hanagasi H., Hardy J., Hassan A., Hattori N., Hauser R. A., Hedera P., Hentati F., Hertz J. M., Holton J. L., Houlden H., Hutz M. H., Ikeuchi T., Illarioshkin S., Inca-Martinez M., Infante J., Jankovic J., Jeon B. S., Jesus S., Jimenez-Del-Rio M., Kaasinen V., Kataoka H., Kawakami H., Kim Y. J., Klivenyi P., Koks S., Konig I. R., Kostic V., Koziorowski D., Kruger R., Krygowska-Wajs A., Kulisevsky J., Lai D., Lang A., LeDoux M., Lesage S., Lim S. -Y., Lin C. -H., Lohmann K., Lopera F., Lopez G., Lu C. -S., Lynch T., Machaczka M., Madoev H., Magalhaes M., Majamaa K., Maraganore D., Marder K., Markopoulou K., Martikainen M. H., Mata I., Mazzetti P., Mellick G., Menendez-Gonzalez M., Micheli F., Mirelman A., Mir P., Morino H., Morris H., Munhoz R. P., Naito A., Olszewska D. A., Ozelius L. J., Padmanabhan S., Paisan-Ruiz C., Payami H., Peluso S., Petkovic S., Petrucci S., Pezzoli G., Pimentel M., Pirker W., Pramstaller P. P., Pulkes T., Puschmann A., Quattrone A., Raggio V., Ransmayr G., Rieder C., Riess O., Rodriguez-Porcel F., Rogaeva E., Ross O. A., Ruiz-Martinez J., Sammler E., San Luciano M., Satake W., Saunders-Pullman R., Sazci A., Scherzer C., Schrag A., Schumacher-Schuh A., Sharma M., Sidransky E., Singleton A. B., Petersen M. S., Smolders S., Spitz M., Stefanis L., Struhal W., Sue C. M., Swan M., Swanberg M., Taba P., Taipa R., Tan M., Tan A. H., Tan E. -K., Tang B., Tayebi N., Thaler A., Thomas A., Toda T., Toft M., Torres L., Tumas V., Valente E. M., Van Broeckhoven C., Vecsei L., Velez-Pardo C., Vidailhet M., Warner T. T., Williams-Gray C. H., Winkelmann J., Woitalla D., Wood N. W., Wszolek Z. K., Wu R. -M., Wu Y. -R., Xie T., Yoshino H., Zhang B., and Zimprich A.

Published
2019

11. Worldwide barriers to genetic testing for movement disorders

Author

Gatto, E. M., Walker, R. H., Gonzalez, C., Cesarini, M., Cossu, G., Stephen, C. D., Balint, B., Rodriguez-Violante, M., Jankovic, J., Morgante, F., Jinnah, H. A., Albanese, A., Amorin, I., Bhatia, K., Brandabur, M., Canals, F., Cardoso, F., Cardozo, A., Carvalho, V., Chade, A., Chana, P., Darling, A., Correia Guedes, L., De la Cerda, A., de Koning-Tijssen, M., Della Coletta, M. V., Duquette, A., Espay, A., Etcheverry, J., Ferreira, J., Friedman, J., Fung, V., Ganos, C., Ruiz, P. G., Gershanik, O., Gross, K. B. V., Han-Joon, K., Kaji, R., Kotschet, K., Rosa, A. L. D., Litvan, I., Lubarr, N., Marano, M., Josep Marti, M., Martinez Ramirez, D., Miyasaki, J., Munchau, A., Chesta, D. M., Pal, P., Peralta, M. C., Phielipp, N., Maria Riboldi, G., Oroz, M. C. R., Rodriguez-Porcel, F., Sarva, H., Schoels, L., Stamelou, M., and Uribe Roca, C.

Subjects
Asia, Movement disorders, Disease, Limited access, Middle East, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Testing, 030212 general & internal medicine, Public funding, Genetic testing, Dystonia, Movement Disorders, medicine.diagnostic_test, business.industry, Chorea, medicine.disease, Europe, Neurology, Neurology (clinical), medicine.symptom, business, chorea, dystonia, genetic and inherited disorders, genetic diagnosis, genetic testing, movement disorders, Parkinson's disease, whole exome sequencing, 030217 neurology & neurosurgery, Demography
Abstract

Author(s): Gatto, Emilia M; Walker, Ruth H; Gonzalez, Claudio; Cesarini, Martin; Cossu, Giovanni; Stephen, Christopher D; Balint, Bettina; Rodriguez-Violante, Mayela; Jankovic, Joseph; Morgante, Francesca; Jinnah, Hyder A; Rare Movement Disorders Study Group of the International Parkinson Disease, Movement Disorders Society | Abstract: Background and purposeDespite enormous advances in identifying genetic variants responsible for many neurological diseases, access to genetic testing may be limited in clinical practice. The objective of this study was to assess worldwide access to genetic tests for movement disorders and factors impacting their utilization.MethodsThe Rare Movement Disorders Study Group of the International Parkinson and Movement Disorder Society designed an online survey electronically mailed to all 7815 members.ResultsSurvey data completed by 1269 participants from 109 countries were analysed. Limited access to geneticists and genetic counsellors was reported in many world regions compared to Europe and North America. Availability of genetic testing was limited, with rates of access lower than 50%. Genetic testing for chorea was the most commonly available. For parkinsonism, dystonia, ataxia, hereditary spastic paraplegias and metabolic disorders, there was limited access to genetic testing in all countries compared to Europe and North America, with significant differences found for Africa, Central/South America, Asia. In many regions, genetic testing was supported by either private or public funding. Genetic testing was free of charge in Europe according to 63.5% of respondents. In North America, Africa, Central/South America, Asia and the Middle East access to free of charge genetic testing was by far significantly lower compared to Europe.ConclusionsThis survey highlights difficulties in accessing genetic testing and individuals with expertise in genetics at the worldwide level. In addition, major disparities in genetic testing amongst world regions are highlighted, probably due to a variety of factors including financial barriers.

Published
2021

12. Formulation matters! A spectroscopic and molecular dynamics investigation on the peptide CIGB552 as itself and in its therapeutical formulation

Author

Savioli, M, Antonelli, L, Bocchinfuso, G, Cavalieri, F, Cimino, R, Gatto, E, Placidi, E, Fernandez Masso, JR, Garay Perez, H, Santana, H, Guerra-Vallespi, M, Venanzi, M, Savioli, M, Antonelli, L, Bocchinfuso, G, Cavalieri, F, Cimino, R, Gatto, E, Placidi, E, Fernandez Masso, JR, Garay Perez, H, Santana, H, Guerra-Vallespi, M, and Venanzi, M

Abstract

Synthetic therapeutic peptides (STP) are intensively studied as new-generation drugs, characterized by high purity, biocompatibility, selectivity and stereochemical control. However, most of the studies are focussed on the bioactivity of STP without considering how the formulation actually used for therapy administration could alter the physico-chemical properties of the active principle. The aggregation properties of a 20-mer STP (Ac-His-Ala-Arg-Ile-Lys-D-Pro-Thr-Phe-Arg-Arg-D-Leu-Lys-Trp-Lys-Tyr-Lys-Gly-Lys-Phe-Trp-NH2 ), showing antitumor activity, were investigated by optical spectroscopy and atomic force microscopy imaging, as itself (CIGB552) and in its therapeutic formulation (CIGB552TF). It has found that the therapeutic formulation deeply affects the aggregation properties of the investigated peptide and the morphology of the aggregates formed on mica by deposition of CIGB552 and CIGB552TF millimolar solutions. Molecular dynamics simulations studied the first steps of CIGB552 aggregation under physiological ionic strength conditions (NaCl 150 mM), showing that peptide oligomers, from dimers to tetramers, are preferentially formed in this environment. Interestingly, cell viability assays performed on H-460 cell lines indicate a major antiproliferative activity of the peptide in its therapeutic formulation with respect to the peptide aqueous solution.

Published
2021

18. Bumblebees Use Sequential Scanning of Countable Items in Visual Patterns to Solve Numerosity Tasks

Author

MaBouDi, H., Galpayage Dona, H.S., Gatto, E., Loukola, O.J., Buckley, E., Onoufriou, P.D., Skorupski, P., and Chittka, L.

Abstract

Most research in comparative cognition focuses on measuring if animals manage certain tasks; fewer studies explore how animals might solve them. We investigated bumblebees’ scanning strategies in a numerosity task, distinguishing patterns with two items from four and one from three, and subsequently transferring numerical information to novel numbers, shapes, and colors. Video analyses of flight paths indicate that bees do not determine the number of items by using a rapid assessment of number (as mammals do in “subitizing”); instead, they rely on sequential enumeration even when items are presented simultaneously and in small quantities. This process, equivalent to the motor tagging (“pointing”) found for large number tasks in some primates, results in longer scanning times for patterns containing larger numbers of items. Bees used a highly accurate working memory, remembering which items have already been scanned, resulting in fewer than 1% of re-inspections of items before making a decision. Our results indicate that the small brain of bees, with less parallel processing capacity than mammals, might constrain them to use sequential pattern evaluation even for low quantities.

Published
2020

19. Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients

Author

Sarihan, E.I., Pérez Palma, E., Niestroj, L.M., Loesch, D., Inca Martinez, M., Horimoto, A.R.V.R., Cornejo Olivas, M., Torres, L., Mazzetti, P., Cosentino, C., Sarapura Castro, E., Rivera Valdivia, A., Dieguez, E., Raggio, V., Lescano, Andrés, Tumas, V., Borges, V., Ferraz, H.B., Rieder, C.R., Schumacher Schuh, A.F., Santos Lobato, B.L., Velez Pardo, C., Jimenez Del-Rio, M., Lopera, F., Moreno, S., Chana Cuevas, P., Fernandez, W., Arboleda, G., Arboleda, H., Arboleda Bustos, C.E., Yearout, D., Zabetian, C.P., Thornton, T.A., O'Connor, T.D., Lal, D., Mata, I.F., Micheli, F., Gatto, E., Shumacher Schuh, A., Chaná, P., Jimenez-Del-Rio, M., Orozco, J.L., Fornaguera, J., Guillén, A.H., Acosta, G.T., Chang Castello, J., Muñoz, B.A., Medina, A., Ferrera, A., Martinez Ramirez, D., Rodriguez, M., Sarapura, H., Rivera, A., Viñuela, A., Lescano, A., Amorin, I., and Latin American Research Consortium on the Genetics of Parkinson's Disease

Subjects
0301 basic medicine, Oncology, medicine.medical_specialty, Parkinson's disease, DNA Copy Number Variations, purl.org/pe-repo/ocde/ford#3.02.25 [https], Population, Genome wide analysis, Disease, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, genetics, Copy-number variation, Age of Onset, education, Genotyping, education.field_of_study, Latin America, business.industry, copy number variants, Parkinson Disease, Odds ratio, Hispanic or Latino, Middle Aged, medicine.disease, GENÉTICA, 030104 developmental biology, Neurology, Cohort, Neurology (clinical), business, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Background Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. In addition, the overall identification of copy number variants at a genome-wide level has been understudied in Parkinson's patients. The objective of this study was to understand the genome-wide burden of copy number variants in Latinos and its association with Parkinson's disease. Methods We used genome-wide genotyping data from 747 Parkinson's disease patients and 632 controls from the Latin American Research Consortium on the Genetics of Parkinson's disease. Results Genome-wide copy number burden analysis showed that patients were significantly enriched for copy number variants overlapping known Parkinson's disease genes compared with controls (odds ratio, 3.97; 95%CI, 1.69-10.5; P = 0.018). PRKN showed the strongest copy number burden, with 20 copy number variant carriers. These patients presented an earlier age of disease onset compared with patients with other copy number variants (median age at onset, 31 vs 57 years, respectively; P = 7.46 × 10-7 ). Conclusions We found that although overall genome-wide copy number variant burden was not significantly different, Parkinson's disease patients were significantly enriched with copy number variants affecting known Parkinson's disease genes. We also identified that of 250 patients with early-onset disease, 5.6% carried a copy number variant on PRKN in our cohort. Our study is the first to analyze genome-wide copy number variant association in Latino Parkinson's disease patients and provides insights about this complex disease in this understudied population. © 2020 International Parkinson and Movement Disorder Society.

Published
2020

20. Selective interspecific information use in the nest choice of solitary bees

Author

Loukola, O. J. (Olli J.), Gatto, E. (Elia), Híjar-Islas, A. C. (Ana C.), Chittka, L. (Lars), Loukola, O. J. (Olli J.), Gatto, E. (Elia), Híjar-Islas, A. C. (Ana C.), and Chittka, L. (Lars)

Abstract

Most of the studies on learning in bees have focused on the foraging context; we know little about the preferences and cognitive processes in nest-site selection, especially in solitary bees. The majority of the bee species are solitary and in contrast to eusocial bees, solitary bees’ cognition and social information use have remained largely unstudied. Solitary cavity-nesting mason bees (Osmia spp.) are an ideal system to study interspecific information use in nest choice in the wild as many species share similar nesting requirements. Here, we show that the blue mason bee (O. caerulescens) and the orange-vented mason bee (O. leaiana) examine hallmarks of parasitization of the nests of red mason bees (O. bicornis) before deciding where to establish their own nests. They were also presented with contextual cues (geometric symbols) that could be linked to parasitization by observational learning. Subjects subsequently had the choice of nesting in a nest site marked by the symbol that matched, or did not match, the one seen at the parasitized or healthy nest. We show that the bees copied and rejected the symbol of the examined nest manipulated to exhibit successful and unsuccessful nesting, respectively. We conclude that solitary bees use interspecific information in their nest-site selection. In contrast with current theories of species coexistence, niche overlap between species may dynamically change depending on the observed success of surrounding individuals.

Published
2020

26. Using global team science to identify genetic parkinson's disease worldwide

Author

Vollstedt, E. -J., Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad-Annuar, A., Albanese, Alberto, Alcalay, R. N., Al-Mubarak, B., Alvarez, V., Andree-Munoz, B., Annesi, G., Appel-Cresswell, S., Arkadir, D., Armasu, S., Barber, T. R., Bardien, S., Barkhuizen, M., Barrett, M. J., Basak, A. N., Beach, T., Benitez, B. A., Berg, D., Bhatia, K., Binkofski, F., Blauwendraat, C., Bonifati, V., Borges, V., Bozi, M., Brice, A., Brighina, L., Brockmann, K., Brucke, T., Bruggemann, N., Camacho, M., Cardoso, F., Belin, A. C., Carr, J., Chan, P., Chang-Castello, J., Chase, B., Chen-Plotkin, A., Ju Chung, S., Cilia, R., Clarimon, J., Clark, L., Cornejo-Olivas, M., Corvol, J. -C., Cosentino, C., Cras, P., Crosiers, D., Damasio, J., Das, P., de Carvalho Aguiar, P., De Michele, G., De Rosa, A., Dieguez, E., Dorszewska, J., Erer, S., Ertan, S., Farrer, M., Fedotova, E., Ferese, R., Ferrarese, C., Ferraz, H., Fiala, O., Foroud, T., Friedman, A., Frigerio, R., Funayama, M., Gambardella, S., Garraux, G., Gatto, E. M., Genc, G., Giladi, N., Goldwurm, S., Gomez-Esteban, J. C., Gomez-Garre, P., Gorostidi, A., Grosset, D., Hanagasi, H., Hardy, J., Hassan, A., Hattori, N., Hauser, R. A., Hedera, P., Hentati, F., Hertz, J. M., Holton, J. L., Houlden, H., Hutz, M. H., Ikeuchi, T., Illarioshkin, S., Inca-Martinez, M., Infante, J., Jankovic, J., Jeon, B. S., Jesus, S., Jimenez-Del-Rio, M., Kaasinen, V., Kataoka, H., Kawakami, H., Kim, Y. J., Klivenyi, P., Koks, S., Konig, I. R., Kostic, V., Koziorowski, D., Kruger, R., Krygowska-Wajs, A., Kulisevsky, J., Lai, D., Lang, A., Ledoux, M., Lesage, S., Lim, S. -Y., Lin, C. -H., Lohmann, K., Lopera, F., Lopez, G., Lu, C. -S., Lynch, T., Machaczka, M., Madoev, H., Magalhaes, M., Majamaa, K., Maraganore, D., Marder, K., Markopoulou, K., Martikainen, M. H., Mata, I., Mazzetti, P., Mellick, G., Menendez-Gonzalez, M., Micheli, F., Mirelman, A., Mir, P., Morino, H., Morris, H., Munhoz, R. P., Naito, A., Olszewska, D. A., Ozelius, L. J., Padmanabhan, S., Paisan-Ruiz, C., Payami, H., Peluso, S., Petkovic, S., Petrucci, S., Pezzoli, G., Pimentel, M., Pirker, W., Pramstaller, P. P., Pulkes, T., Puschmann, A., Quattrone, A., Raggio, V., Ransmayr, G., Rieder, C., Riess, O., Rodriguez-Porcel, F., Rogaeva, E., Ross, O. A., Ruiz-Martinez, J., Sammler, E., San Luciano, M., Satake, W., Saunders-Pullman, R., Sazci, A., Scherzer, C., Schrag, A., Schumacher-Schuh, A., Sharma, M., Sidransky, E., Singleton, A. B., Petersen, M. S., Smolders, S., Spitz, M., Stefanis, L., Struhal, W., Sue, C. M., Swan, M., Swanberg, M., Taba, P., Taipa, R., Tan, M., Tan, A. H., Tan, E. -K., Tang, B., Tayebi, N., Thaler, A., Thomas, A., Toda, T., Toft, M., Torres, L., Tumas, V., Valente, E. M., Van Broeckhoven, C., Vecsei, L., Velez-Pardo, C., Vidailhet, M., Warner, T. T., Williams-Gray, C. H., Winkelmann, J., Woitalla, D., Wood, N. W., Wszolek, Z. K., Wu, R. -M., Wu, Y. -R., Xie, T., Yoshino, H., Zhang, B., Zimprich, A., Albanese A. (ORCID:0000-0002-5864-0006), Vollstedt, E. -J., Kasten, M., Klein, C., Aasly, J., Adler, C., Ahmad-Annuar, A., Albanese, Alberto, Alcalay, R. N., Al-Mubarak, B., Alvarez, V., Andree-Munoz, B., Annesi, G., Appel-Cresswell, S., Arkadir, D., Armasu, S., Barber, T. R., Bardien, S., Barkhuizen, M., Barrett, M. J., Basak, A. N., Beach, T., Benitez, B. A., Berg, D., Bhatia, K., Binkofski, F., Blauwendraat, C., Bonifati, V., Borges, V., Bozi, M., Brice, A., Brighina, L., Brockmann, K., Brucke, T., Bruggemann, N., Camacho, M., Cardoso, F., Belin, A. C., Carr, J., Chan, P., Chang-Castello, J., Chase, B., Chen-Plotkin, A., Ju Chung, S., Cilia, R., Clarimon, J., Clark, L., Cornejo-Olivas, M., Corvol, J. -C., Cosentino, C., Cras, P., Crosiers, D., Damasio, J., Das, P., de Carvalho Aguiar, P., De Michele, G., De Rosa, A., Dieguez, E., Dorszewska, J., Erer, S., Ertan, S., Farrer, M., Fedotova, E., Ferese, R., Ferrarese, C., Ferraz, H., Fiala, O., Foroud, T., Friedman, A., Frigerio, R., Funayama, M., Gambardella, S., Garraux, G., Gatto, E. M., Genc, G., Giladi, N., Goldwurm, S., Gomez-Esteban, J. C., Gomez-Garre, P., Gorostidi, A., Grosset, D., Hanagasi, H., Hardy, J., Hassan, A., Hattori, N., Hauser, R. A., Hedera, P., Hentati, F., Hertz, J. M., Holton, J. L., Houlden, H., Hutz, M. H., Ikeuchi, T., Illarioshkin, S., Inca-Martinez, M., Infante, J., Jankovic, J., Jeon, B. S., Jesus, S., Jimenez-Del-Rio, M., Kaasinen, V., Kataoka, H., Kawakami, H., Kim, Y. J., Klivenyi, P., Koks, S., Konig, I. R., Kostic, V., Koziorowski, D., Kruger, R., Krygowska-Wajs, A., Kulisevsky, J., Lai, D., Lang, A., Ledoux, M., Lesage, S., Lim, S. -Y., Lin, C. -H., Lohmann, K., Lopera, F., Lopez, G., Lu, C. -S., Lynch, T., Machaczka, M., Madoev, H., Magalhaes, M., Majamaa, K., Maraganore, D., Marder, K., Markopoulou, K., Martikainen, M. H., Mata, I., Mazzetti, P., Mellick, G., Menendez-Gonzalez, M., Micheli, F., Mirelman, A., Mir, P., Morino, H., Morris, H., Munhoz, R. P., Naito, A., Olszewska, D. A., Ozelius, L. J., Padmanabhan, S., Paisan-Ruiz, C., Payami, H., Peluso, S., Petkovic, S., Petrucci, S., Pezzoli, G., Pimentel, M., Pirker, W., Pramstaller, P. P., Pulkes, T., Puschmann, A., Quattrone, A., Raggio, V., Ransmayr, G., Rieder, C., Riess, O., Rodriguez-Porcel, F., Rogaeva, E., Ross, O. A., Ruiz-Martinez, J., Sammler, E., San Luciano, M., Satake, W., Saunders-Pullman, R., Sazci, A., Scherzer, C., Schrag, A., Schumacher-Schuh, A., Sharma, M., Sidransky, E., Singleton, A. B., Petersen, M. S., Smolders, S., Spitz, M., Stefanis, L., Struhal, W., Sue, C. M., Swan, M., Swanberg, M., Taba, P., Taipa, R., Tan, M., Tan, A. H., Tan, E. -K., Tang, B., Tayebi, N., Thaler, A., Thomas, A., Toda, T., Toft, M., Torres, L., Tumas, V., Valente, E. M., Van Broeckhoven, C., Vecsei, L., Velez-Pardo, C., Vidailhet, M., Warner, T. T., Williams-Gray, C. H., Winkelmann, J., Woitalla, D., Wood, N. W., Wszolek, Z. K., Wu, R. -M., Wu, Y. -R., Xie, T., Yoshino, H., Zhang, B., Zimprich, A., and Albanese A. (ORCID:0000-0002-5864-0006)

Abstract

Talks on rare diseases in the field of neurology often start with a statement like this: “About 80% of all rare diseases have a neurologic manifestation and about 80% of those are genetic in origin.” Although these numbers probably represent more of an estimate than well-documented evidence, rapidly advancing and cost-effective sequencing technologies have led to the quickly growing identification of patients with hereditary neurological diseases. Although the importance of genetics for diagnosis and genetic counseling is undisputed, the recent development of first genetargeted therapies entering clinical trial1,2 is adding an important new layer to the (re-)consideration of genetic testing in neurology. However, establishing accurate genotype– phenotype and genotype–treatment relationships requires large sample sizes. Systematic reviews can serve as instruments to combine information from several small samples, but unfortunately, this is often complicated by inconsistent and incomplete reporting of clinical and genetic data across studies. Thus, large multicenter approaches are necessary to systematically and uniformly characterize patients with genetic neurologic conditions and to eventually establish sizable clinical trial-ready cohorts.

Published
2019

30. The importance of being Aib. Aggregation and self-assembly studies on conformationally constrained oligopeptides

Author

Venanzi, M, Gatto, E, Formaggio, F, and Toniolo, C

Subjects
Protein Structure, Secondary, Aminoisobutyric Acids, conformationally constrained α-amino acid, Molecular Dynamics Simulation, conformationally constrained α-amino acid, peptide aggregation, peptide fibers, peptide self-assembled monolayers, α-aminoisobutyric acid, Amino Acid Sequence, Fluorescent Dyes, Hydrogen Bonding, Microscopy, Atomic Force, Molecular Probes, Oligopeptides, Protein Structure, Secondary, Solutions, Spectrometry, Fluorescence, Protein Aggregates, Fluorescence, Settore CHIM/02 - Chimica Fisica, α-aminoisobutyric acid, Microscopy, Spectrometry, Atomic Force
Abstract

The role of the conformationally constrained α-aminoisobutyric acid (Aib) residue in the aggregation and self-assembly properties of oligopeptides is discussed, critically reviewing our recent work in the field. In this connection, three significant case studies are presented: (i) aggregation propensity of Aib homo-oligopeptides of different length; (ii) perturbation of the conformational and aggregation properties of Ala-based pentapeptides by a single Aib versus Ala substitution; and (iii) build up of self-assembled monolayers formed by Aib homo-hexapeptide building blocks. The peptides investigated were all functionalized by a fluorescent probe, that is, a naphthyl group in the first case-study and a pyrenyl group in the other two, with the aim at applying optical spectroscopy techniques and evaluating the relevance of aromatic interactions in the aggregation process. Microscopy techniques at nanometric resolution and results of molecular dynamics simulations are also presented to analyze how the conformational properties of the peptide building blocks would affect the morphology of the peptide aggregates from the nanoscale to the mesoscale. Copyright © 2017 European Peptide Society and John WileySons, Ltd.

Published
2017

32. Influence of bracket-slot design on the forces released by superelastic nickel-titanium alignment wires in different deflection configurations

Author

Nucera R, Gatto E, Borsellino C, Aceto P, Fabiano F, Matarese G, Cordasco G., PERILLO, Letizia, Nucera, R, Gatto, E, Borsellino, C, Aceto, P, Fabiano, F, Matarese, G, Perillo, Letizia, and Cordasco, G.

Subjects
bracket-slot design, nickel-titanium, wires
Abstract

Objective: To evaluate how different bracket-slot design characteristics affect the forces released by superelastic nickel-titanium (NiTi) alignment wires at different amounts of wire deflection. Materials and Methods: A three-bracket bending and a classic-three point bending testing apparatus were used to investigate the load-deflection properties of one superelastic 0.014-inch NiTi alignment wire in different experimental conditions. The selected NiTi archwire was tested in association with three bracket systems: (1) conventional twin brackets with a 0.018-inch slot, (2) a self-ligating bracket with a 0.018-inch slot, and (3) a self-ligating bracket with a 0.022-inch slot. Wire specimens were deflected at 2 mm and 4 mm. Results: Use of a 0.018-inch slot bracket system, in comparison with use of a 0.022-inch system, increases the force exerted by the superelastic NiTi wires at a 2-mm deflection. Use of a self-ligating bracket system increases the force released by NiTi wires in comparison with the conventional ligated bracket system. NiTi wires deflected to a different maximum deflection (2 mm and 4 mm) release different forces at the same unloading data point (1.5 mm). Conclusion: Bracket design, type of experimental test, and amount of wire deflection significantly affected the amount of forces released by superelastic NiTi wires (P < .05). This phenomenon offers clinicians the possibility to manipulate the wire's load during alignment.

Published
2014

35. Applications of three-dimensional carbon nanotube

Author

Scarselli, Ma, Castrucci, P, Nicola, F, Cacciotti, I, Nanni, F, Gatto, E, Venanzi, M, and DE CRESCENZI, M

Subjects
carbon nanotube sponge, electrochemical, hydrophobicity, lipophilicity, Settore FIS/03 - Fisica della Materia
Published
2015

37. El reuso de lejias, una alternativa para disminuir la contaminación en aguas residuales en la elaboración de aceitunas verdes de la variedad Arauco

Author

Maldonado, Mariela, Gatto, E., Callejón, D., Barbero, M.A., Crespo, Diana Elvira, Santi, A., and Cerchiai, E.

Subjects
Procesamiento, Hypochlorites, Olives, Lactic Fermentation, Fermentación Láctica, Processing, Wastewater, Lejía, Reuso, Aguas Residuales, Organoleptic Properties, Desamarizado, Aceituna, Variedad Arauco, Propiedades Organolépticas, Hipocloritos
Abstract

Las aceitunas de la variedad Arauco se colocaron con lejía al 2,25% durante ocho horas en bidones por triplicado. La lejía se reutilizó previa restitución del título hasta diez veces. Luego se lavaron con agua estanca durante cuatro y doce horas. Finalmente, las aceitunas se colocaron en salmuera acidificada al 0,2% 0 de ácido clorhídrico y ácido acético para la correspondiente fermentación láctica. El primer desamarizado sin reuso se tomó como testigo. A las muestras extraídas se le realizaron los siguientes análisis: DBO5, DQO, conductividad, fenoles, sólidos sedimentables. Se siguieron las diez fermentaciones con análisis físico-químico: pH, acidez, lejía residual y microbiológico. Del análisis de los datos se concluye que se puede reusar la lejía hasta cinco veces sin afectar las características organolépticas de las aceitunas. Fil: Maldonado, Mariela. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Mendoza; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Gatto, E. Universidad Católica de Cuyo. Facultad Don Bosco; Argentina Fil: Callejón, D. Universidad Católica de Cuyo. Facultad Don Bosco; Argentina Fil: Barbero, M.A. Universidad Católica de Cuyo. Facultad Don Bosco; Argentina Fil: Crespo, Diana Elvira. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Microbiología y Zoología Agrícola; Argentina Fil: Santi, A. Instituto Nacional de Tecnología Industrial; Argentina Fil: Cerchiai, E. Instituto Nacional de Tecnología Industrial; Argentina

Published
2015

41. Aggregation propensity of Aib homo-peptides of different length: An insight from molecular dynamics simulations

Author

Bocchinfuso, G., Conflitti, P., Raniolo, S., Caruso, M., Mazzuca, C., Gatto, E., Placidi, E., Formaggio, F., Toniolo, C., Venanzi, M., and Palleschi, A.

Subjects
atomic force microscopy, conformational studies, helical fibrils, inversion helical chirality, peptide self-aggregation, role of aromatics, spectroscopy, α-aminoisobutyric acid, Aminoisobutyric Acids, Microscopy, Atomic Force, Oligopeptides, Protein Aggregates, Protein Interaction Domains and Motifs, Protein Structure, Quaternary, Protein Structure, Secondary, Molecular Dynamics Simulation, Protein Structure, Secondary, Inversion helical chirality, Quaternary, Atomic force microscopy, Conformational studies, Role of aromatics, Spectroscopy, Settore CHIM/02 - Chimica Fisica, Microscopy, Peptide self-aggregation, Atomic Force, alpha-aminoisobutyric acid, Helical fibrils
Abstract

Interactions between peptides are relevant from a biomedical point of view, in particular for the role played by their aggregates in different important pathologies, and also because peptide aggregates represent promising scaffolds for innovative materials. In the present article, the aggregation properties of the homo-peptides formed by α-aminoisobutyric acid (U) residues are discussed. The peptides investigated have chain lengths between six and 15 residues and comprise benzyl and naphthyl groups at the N- and C-termini, respectively. Spectroscopic experiments and molecular dynamics simulations show that the shortest homo-peptide, constituted by six U, does not exhibit any tendency to aggregate under the conditions examined. On the other hand, the homologous peptide with 15 U forms very stable and compact aggregates in 70/30(v/v) methanol/water solution. Atomic force microscopy images indicate that these aggregates promote formation of long fibrils once they are deposited on a mica surface. The aggregation phenomenon is mainly due to hydrophobic interactions occurring between very stable helical structures, and the aromatic groups in the peptides seem to play a minor role.

Published
2014
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