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11 results on '"Silveira, Tainá Regina Damaceno"'

1. Relato de caso: a deficiência da adenilosuccinato liase

Author

Vitoriano, Larissa Braz Gomes, primary, Lima, Lívia Gonçalves de, additional, Martins, Luisa Longhini, additional, Ferreira, Nathalia Destefano, additional, Mini, Talita Russo, additional, Silveira, Tainá Regina Damaceno, additional, Lourenco, Charles Marques, additional, Cecchetti, Sheila Andrade de Paula, additional, and Fonseca, Jaqueline Harouche Rodrigues, additional

Published
2023
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2. Apresentação neuropsiquiátrica da doença de Niemann-Pick tipo C: relato de caso e revisão da literatura

Author

Coghi, Bruno Previdelli, primary, Nicoletti, Beatriz Bettiol, additional, Pastre, Bruna Sandy, additional, da-Silva, Bruna Isepão Barboza, additional, Carneiro, Zumira Aparecida, additional, Fonseca, Jacqueline, additional, Vagnini, Laura, additional, Albuquerque, Regina, additional, Almeida, Marcela, additional, Tomaz, Debora de Cassia, additional, Goes, Fernanda Veiga, additional, Silveira, Tainá Regina Damaceno, additional, Hamad, Ana Paula Andrade, additional, Timm, Fernanda, additional, and Lourenco, Charles Marques, additional

Published
2022
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3. Raquitismo hipofosfatêmico ligado ao X: importância no diagnóstico diferencial no paciente pediátrico com déficit pôndero-estatural de causa desconhecida

Author

Chini, Larissa da Silva, primary, Cabral, Larissa de Menezes, additional, Cavalieri, Marilene Ferraz, additional, Isaac, Álvaro Martins Gabriel, additional, Carneiro, Zumira Aparecida, additional, Vagnini, Laura, additional, Hirose, Thiago, additional, Lourenco, Charles Marques, additional, and Silveira, Tainá Regina Damaceno, additional

Published
2022
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4. Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

Author

Medico Salsench, Eva, primary, Maroofian, Reza, additional, Deng, Ruizhi, additional, Lanko, Kristina, additional, Nikoncuk, Anita, additional, Pérez, Belén, additional, Sánchez-Lijarcio, Obdulia, additional, Ibáñez-Mico, Salvador, additional, Wojcik, Antonina, additional, Vargas, Marcelo, additional, Abbas Al-Sannaa, Nouriya, additional, Girgis, Marian Y, additional, Silveira, Tainá Regina Damaceno, additional, Bauer, Peter, additional, Schroeder, Audrey, additional, Fong, Chin-To, additional, Begtrup, Amber, additional, Babaei, Meisam, additional, Toosi, Mehran Beiraghi, additional, Ashrafzadeh, Farah, additional, Imannezhad, Shima, additional, Doosti, Mohammad, additional, Ahangari, Najmeh, additional, Najarzadeh Torbati, Paria, additional, Ghayoor Karimiani, Ehsan, additional, Murphy, David, additional, Cali, Elisa, additional, Kaya, Ibrahim H, additional, AlMuhaizea, Mohammad, additional, Colak, Dilek, additional, Cardona-Londoño, Kelly J, additional, Arold, Stefan T, additional, Houlden, Henry, additional, Bertoli-Avella, Aida, additional, Kaya, Namik, additional, and Barakat, Tahsin Stefan, additional

Published
2021
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5. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Author

Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A., Alzaidan, Hamad, Aldhalaan, Hesham, Perenthaler, Elena, Van Der Linde, Herma C., Nikoncuk, Anita, Kühn, Nikolas A., Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M., Alahmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, Alhargan, Aljouhra, Albader, Anoud A., Binhumaid, Faisal S., Goljan, Ewa, Monies, Dorota, Mustafa, Osama M., Aldosary, Mazhor, Albakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A. Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A., Karimiani, Ehsan Ghayoor, Meyer, Brian F., Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M., Schmidts, Miriam, Barakat, Tahsin Stefan, Van Ham, Tjakko J., Kaya, Namik, Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A., Alzaidan, Hamad, Aldhalaan, Hesham, Perenthaler, Elena, Van Der Linde, Herma C., Nikoncuk, Anita, Kühn, Nikolas A., Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M., Alahmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, Alhargan, Aljouhra, Albader, Anoud A., Binhumaid, Faisal S., Goljan, Ewa, Monies, Dorota, Mustafa, Osama M., Aldosary, Mazhor, Albakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A. Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A., Karimiani, Ehsan Ghayoor, Meyer, Brian F., Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M., Schmidts, Miriam, Barakat, Tahsin Stefan, Van Ham, Tjakko J., and Kaya, Namik

Abstract

Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of complexes such as the homotypic fusion and vacuole protein sorting (HOPS) tethering complex, composed of VPS11, VPS16, VPS18, VPS33A, VPS39 and VPS41. The HOPS-specific subunit VPS41 has been reported to promote viability of dopaminergic neurons in Parkinson's disease but to date has not been linked to human disease. Here, we describe five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function.

Published
2021

6. Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

Author

Medico Salsench, Eva, Maroofian, Reza, Deng, Ruizhi, Lanko, Kristina, Nikoncuk, Anita, Pérez, Belén, Sánchez-Lijarcio, Obdulia, Ibáñez-Mico, Salvador, Wojcik, Antonina, Vargas, Marcelo, Abbas Al-Sannaa, Nouriya, Girgis, Marian Y., Silveira, Tainá Regina Damaceno, Bauer, Peter, Schroeder, Audrey, Fong, Chin To, Begtrup, Amber, Babaei, Meisam, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Doosti, Mohammad, Ahangari, Najmeh, Najarzadeh Torbati, Paria, Ghayoor Karimiani, Ehsan, Murphy, David, Cali, Elisa, Kaya, Ibrahim H., Almuhaizea, Mohammad, Colak, Dilek, Cardona-Londoño, Kelly J., Arold, Stefan T., Houlden, Henry, Bertoli-Avella, Aida, Kaya, Namik, Barakat, Tahsin Stefan, Medico Salsench, Eva, Maroofian, Reza, Deng, Ruizhi, Lanko, Kristina, Nikoncuk, Anita, Pérez, Belén, Sánchez-Lijarcio, Obdulia, Ibáñez-Mico, Salvador, Wojcik, Antonina, Vargas, Marcelo, Abbas Al-Sannaa, Nouriya, Girgis, Marian Y., Silveira, Tainá Regina Damaceno, Bauer, Peter, Schroeder, Audrey, Fong, Chin To, Begtrup, Amber, Babaei, Meisam, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Doosti, Mohammad, Ahangari, Najmeh, Najarzadeh Torbati, Paria, Ghayoor Karimiani, Ehsan, Murphy, David, Cali, Elisa, Kaya, Ibrahim H., Almuhaizea, Mohammad, Colak, Dilek, Cardona-Londoño, Kelly J., Arold, Stefan T., Houlden, Henry, Bertoli-Avella, Aida, Kaya, Namik, and Barakat, Tahsin Stefan

Published
2021

7. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Author

Sanderson, Leslie E, primary, Lanko, Kristina, additional, Alsagob, Maysoon, additional, Almass, Rawan, additional, Al-Ahmadi, Nada, additional, Najafi, Maryam, additional, Al-Muhaizea, Mohammad A, additional, Alzaidan, Hamad, additional, AlDhalaan, Hesham, additional, Perenthaler, Elena, additional, van der Linde, Herma C, additional, Nikoncuk, Anita, additional, Kühn, Nikolas A, additional, Antony, Dinu, additional, Owaidah, Tarek Mustafa, additional, Raskin, Salmo, additional, Vieira, Luana Gabriela Dalla Rosa, additional, Mombach, Romulo, additional, Ahangari, Najmeh, additional, Silveira, Tainá Regina Damaceno, additional, Ameziane, Najim, additional, Rolfs, Arndt, additional, Alharbi, Aljohara, additional, Sabbagh, Raghda M, additional, AlAhmadi, Khalid, additional, Alawam, Bashayer, additional, Ghebeh, Hazem, additional, AlHargan, Aljouhra, additional, Albader, Anoud A, additional, Binhumaid, Faisal S, additional, Goljan, Ewa, additional, Monies, Dorota, additional, Mustafa, Osama M, additional, Aldosary, Mazhor, additional, AlBakheet, Albandary, additional, Alyounes, Banan, additional, Almutairi, Faten, additional, Al-Odaib, Ali, additional, Aksoy, Durdane Bekar, additional, Basak, A Nazli, additional, Palvadeau, Robin, additional, Trabzuni, Daniah, additional, Rosenfeld, Jill A, additional, Karimiani, Ehsan Ghayoor, additional, Meyer, Brian F, additional, Karakas, Bedri, additional, Al-Mohanna, Futwan, additional, Arold, Stefan T, additional, Colak, Dilek, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Bertoli-Avella, Aida M, additional, Schmidts, Miriam, additional, Barakat, Tahsin Stefan, additional, van Ham, Tjakko J, additional, and Kaya, Namik, additional

Published
2021
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8. Atrofia muscular espinhal com fraturas congênitas 2: Relato do primeiro paciente latino-americano e revisão da literatura

Author

Amaral, Mattheus Lucca, primary, Del-Campo, Mariana Dentelo, additional, Rodrigues, Lucas Ribeiro, additional, Silveira, Tainá Regina Damaceno, additional, Carneiro, Zumira Aparecida, additional, Vagnini, Laura, additional, Resende, Jordana, additional, Albuquerque, Regina, additional, Tomaz, Debora de Cassia, additional, Almeida, Marcela, additional, Gomes, Fernanda Veiga, additional, Hamad, Ana Paula Andrade, additional, and Lourenco, Charles Marques, additional

Published
2021
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9. Novel clinical and genetic insight into CXorf56-associated intellectual disability

Author

Rocha, Maria Eugenia, primary, Silveira, Tainá Regina Damaceno, additional, Sasaki, Erina, additional, Sás, Daíse Moreno, additional, Lourenço, Charles Marques, additional, Kandaswamy, Krishna K., additional, Beetz, Christian, additional, Rolfs, Arndt, additional, Bauer, Peter, additional, Reardon, Willie, additional, and Bertoli-Avella, Aida M., additional

Published
2019
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10. Novel clinical and genetic insight into CXorf56-associated intellectual disability

Author

Rocha, Maria Eugenia, Silveira, Tainá Regina Damaceno, Sasaki, Erina, Sás, Daíse Moreno, Lourenço, Charles Marques, Kandaswamy, Krishna K., Beetz, Christian, Rolfs, Arndt, Bauer, Peter, Reardon, Willie, and Bertoli-Avella, Aida M.

Abstract

Intellectual disability (ID) is one of most frequent reasons for genetic consultation. The complex molecular anatomy of ID ranges from complete chromosomal imbalances to single nucleotide variant changes occurring de novo, with thousands of genes identified. This extreme genetic heterogeneity challenges the molecular diagnosis, which mostly requires a genomic approach. CXorf56is largely uncharacterized and was recently proposed as a candidate ID gene based on findings in a single Dutch family. Here, we describe nine cases (six males and three females) from three unrelated families. Exome sequencing and combined database analyses, identified family-specific CXorf56variants (NM_022101.3:c.498_503del, p.(Glu167_Glu168del) and c.303_304delCTinsACCC, p.(Phe101Leufs*20)) that segregated with the ID phenotype. These variants are presumably leading to loss-of-function, which is the proposed disease mechanism. Clinically, CXorf56-related disease is a slowly progressive neurological disorder. The phenotype is more severe in hemizygote males, but might also manifests in heterozygote females, which showed skewed X-inactivation patterns in blood. Male patients might present previously unreported neurological features such as epilepsy, abnormal gait, tremor, and clonus, which extends the clinical spectrum of the disorder. In conclusion, we confirm the causative role of variants in CXorf56for an X-linked form of intellectual disability with additional neurological features. The gene should be considered for molecular diagnostics of patients with ID, specifically when family history is suggestive of X-linked inheritance. Further work is needed to understand the role of this gene in neurodevelopment and intellectual disability.

Published
2020
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11. Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.

Author

Salsench, Eva Medico, Maroofian, Reza, Deng, Ruizhi, Lanko, Kristina, Nikoncuk, Anita, Pérez, Belén, Sánchez-Lijarcio, Obdulia, Ibáñez-Mico, Salvador, Wojcik, Antonina, Vargas, Marcelo, Al-Sannaa, Nouriya Abbas, Girgis, Marian Y, Silveira, Tainá Regina Damaceno, Bauer, Peter, Schroeder, Audrey, Fong, Chin-To, Begtrup, Amber, Babaei, Meisam, Toosi, Mehran Beiraghi, and Ashrafzadeh, Farah

Subjects
PHENOTYPES, MYOCLONUS, EPILEPSY, LIFE sciences, SEIZURES (Medicine), HEREDITY, GENETIC variation, RESEARCH, BRAIN diseases, GENETIC mutation, RESEARCH methodology, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies
Published
2021
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