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17 results on '"Vaux, Keith K"'

1. A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

Author

Antaki, Danny, Guevara, James, Maihofer, Adam X., Klein, Marieke, Gujral, Madhusudan, Grove, Jakob, Carey, Caitlin E., Hong, Oanh, Arranz, Maria J., Hervas, Amaia, Corsello, Christina, Vaux, Keith K., Muotri, Alysson R., Iakoucheva, Lilia M., Courchesne, Eric, Pierce, Karen, Gleeson, Joseph G., Robinson, Elise B., Nievergelt, Caroline M., and Sebat, Jonathan

Published
2022
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2. Paternally inherited cis-regulatory structural variants are associated with autism

Author

Brandler, William M., Antaki, Danny, Gujral, Madhusudan, Kleiber, Morgan L., Whitney, Joe, Maile, Michelle S., Hong, Oanh, Chapman, Timothy R., Tan, Shirley, Tandon, Prateek, Pang, Timothy, Tang, Shih C., Vaux, Keith K., Yang, Yan, Harrington, Eoghan, Juul, Sissel, Turner, Daniel J., Thiruvahindrapuram, Bhooma, Kaur, Gaganjot, Wang, Zhuozhi, Kingsmore, Stephen F., Gleeson, Joseph G., Bisson, Denis, Kakaradov, Boyko, Telenti, Amalio, Venter, J. Craig, Corominas, Roser, Toma, Claudio, Cormand, Bru, Rueda, Isabel, Guijarro, Silvina, Messer, Karen S., Nievergelt, Caroline M., Arranz, Maria J., Courchesne, Eric, Pierce, Karen, Muotri, Alysson R., Iakoucheva, Lilia M., Hervas, Amaia, Scherer, Stephen W., Corsello, Christina, and Sebat, Jonathan

Published
2018

3. Frequency and Complexity of De Novo Structural Mutation in Autism

Author

Brandler, William M., Antaki, Danny, Gujral, Madhusudan, Noor, Amina, Rosanio, Gabriel, Chapman, Timothy R., Barrera, Daniel J., Lin, Guan Ning, Malhotra, Dheeraj, Watts, Amanda C., Wong, Lawrence C., Estabillo, Jasper A., Gadomski, Therese E., Hong, Oanh, Fajardo, Karin V. Fuentes, Bhandari, Abhishek, Owen, Renius, Baughn, Michael, Yuan, Jeffrey, Solomon, Terry, Moyzis, Alexandra G., Maile, Michelle S., Sanders, Stephan J., Reiner, Gail E., Vaux, Keith K., Strom, Charles M., Zhang, Kang, Muotri, Alysson R., Akshoomoff, Natacha, Leal, Suzanne M., Pierce, Karen, Courchesne, Eric, Iakoucheva, Lilia M., Corsello, Christina, and Sebat, Jonathan

Published
2016
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4. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Author

Novarino, Gaia, Fenstermaker, Ali G., Zaki, Maha S., Hofree, Matan, Silhavy, Jennifer L., Heiberg, Andrew D., Abdellateef, Mostafa, Rosti, Basak, Scott, Eric, Mansour, Lobna, Masri, Amira, Kayserili, Hulya, Al-Aama, Jumana Y., Abdel-Salam, Ghada M. H., Karminejad, Ariana, Kara, Majdi, Kara, Bulent, Bozorgmehri, Bita, Ben-Omran, Tawfeg, Mojahedi, Faezeh, Mahmoud, Iman Gamal El Din, Bouslam, Naima, Bouhouche, Ahmed, Benomar, Ali, Hanein, Sylvain, Raymond, Laure, Forlani, Sylvie, Mascaro, Massimo, Selim, Laila, Shehata, Nabil, Al-Allawi, Nasir, Bindu, P.S., Azam, Matloob, Gunel, Murat, Caglayan, Ahmet, Bilguvar, Kaya, Tolun, Aslihan, Issa, Mahmoud Y., Schroth, Jana, Spencer, Emily G., Rosti, Rasim O., Akizu, Naiara, Vaux, Keith K., Johansen, Anide, Koh, Alice A., Megahed, Hisham, Durr, Alexandra, Brice, Alexis, Stevanin, Giovanni, Gabriel, Stacy B., Ideker, Trey, and Gleeson, Joseph G.

Published
2014

5. FOXP1-related intellectual disability syndrome: a recognisable entity

Author

Meerschaut, Ilse, Rochefort, Daniel, Revençu, Nicole, Pètre, Justine, Corsello, Christina, Rouleau, Guy A, Hamdan, Fadi F, Michaud, Jacques L, Morton, Jenny, Radley, Jessica, Ragge, Nicola, García-Miñaúr, Sixto, Lapunzina, Pablo, Bralo, Maria Palomares, Mori, Maria Ángeles, Moortgat, Stéphanie, Benoit, Valérie, Mary, Sandrine, Bockaert, Nele, Oostra, Ann, Vanakker, Olivier, Velinov, Milen, de Ravel, Thomy JL, Mekahli, Djalila, Sebat, Jonathan, Vaux, Keith K, DiDonato, Nataliya, Hanson-Kahn, Andrea K, Hudgins, Louanne, Dallapiccola, Bruno, Novelli, Antonio, Tarani, Luigi, Andrieux, Joris, Parker, Michael J, Neas, Katherine, Ceulemans, Berten, Schoonjans, An-Sofie, Prchalova, Darina, Havlovicova, Marketa, Hancarova, Miroslava, Budisteanu, Magdalena, Dheedene, Annelies, Menten, Björn, Dion, Patrick A, Lederer, Damien, and Callewaert, Bert

Published
2017
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9. Parkes Weber Syndrome, Vein of Galen Aneurysmal Malformation, and Other Fast-Flow Vascular Anomalies Are Caused by RASA1 Mutations

Author

Revencu, Nicole, Boon, Laurence M., Mulliken, John B., Enjolras, Odile, Cordisco, Maria Rosa, Burrows, Patricia E., Clapuyt, Philippe, Hammer, Frank, Dubois, Josée, Baselga, Eulalia, Brancati, Francesco, Carder, Robin, Miguel, José, Quintal, Ceballos, Dallapiccola, Bruno, Fischer, Gayle, Frieden, Ilona J., Garzon, Maria, Harper, John, Johnson-Patel, Jennifer, Labrèze, Christine, Martorell, Loreto, Paltiel, Harriet J., Pohl, Annette, Prendiville, Julie, Quere, Isabelle, Siegel, Dawn H., Valente, Enza Maria, Hagen, Annet Van, Hest, Liselot Van, Vaux, Keith K., Vicente, Asuncion, Weibel, Lisa, Chitayat, David, and Vikkula, Miikka

Published
2008
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11. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.

Author

Guemez-Gamboa, Alicia, Akizu, Naiara, Rosti, Rasim Ozgur, Rosti, Basak, Scott, Eric, Schroth, Jana, Copeland, Brett, Vaux, Keith K, Gleeson, Joseph G, Nguyen, Long N, Quek, Debra Q Y, Wong, Bernice H, Tan, Bryan C, Silver, David L, Yang, Hongbo, Chi, Neil C, Zaki, Maha S, Kara, Majdi, Ben-Omran, Tawfeg, and Cazenave-Gassiot, Amaury

Subjects
DOCOSAHEXAENOIC acid, FATTY acid deficiency, BRAIN abnormalities, BLOOD-brain barrier, MICROCEPHALY, PHOSPHOLIPIDS, LYSOPHOSPHATIDYLCHOLINE acyltransferase, DISEASE risk factors
Abstract

Docosahexanoic acid (DHA) is the most abundant omega-3 fatty acid in brain, and, although it is considered essential, deficiency has not been linked to disease. Despite the large mass of DHA in phospholipids, the brain does not synthesize it. DHA is imported across the blood-brain barrier (BBB) through the major facilitator superfamily domain-containing 2a (MFSD2A) protein. MFSD2A transports DHA as well as other fatty acids in the form of lysophosphatidylcholine (LPC). We identify two families displaying MFSD2A mutations in conserved residues. Affected individuals exhibited a lethal microcephaly syndrome linked to inadequate uptake of LPC lipids. The MFSD2A mutations impaired transport activity in a cell-based assay. Moreover, when expressed in mfsd2aa-morphant zebrafish, mutants failed to rescue microcephaly, BBB breakdown and lethality. Our results establish a link between transport of DHA and LPCs by MFSD2A and human brain growth and function, presenting the first evidence of monogenic disease related to transport of DHA in humans. [ABSTRACT FROM AUTHOR]

Published
2015
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14. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Author

Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, and Gleeson, Joseph G

Subjects
Joubert syndrome, ciliopathy, siRNA, high-content screen, KIAA0586, Talpid3, human
Abstract

Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to identify genes regulating ciliogenesis as candidates for JS. We analyzed results with a supervised-learning approach, using SYSCILIA gold standard, Cildb3.0, a centriole siRNA screen and the GTex project, identifying 591 likely candidates. Intersection of this data with whole exome results from 145 individuals with unexplained JS identified six families with predominantly compound heterozygous mutations in KIAA0586. A c.428del base deletion in 0.1% of the general population was found in trans with a second mutation in an additional set of 9 of 163 unexplained JS patients. KIAA0586 is an orthologue of chick Talpid3, required for ciliogenesis and Sonic hedgehog signaling. Our results uncover a relatively high frequency cause for JS and contribute a list of candidates for future gene discoveries in ciliopathies. DOI: http://dx.doi.org/10.7554/eLife.06602.001

Published
2015
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16. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Author

Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, and De Grandis, Elisa

Subjects
*CHILDHOOD epilepsy, *GENETIC mutation, *ADP-ribosylation, *GENETIC code, *BIOACCUMULATION, *HOMEOSTASIS
Abstract

ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal to cellular challenges, such as excitotoxicity or oxidative stress. This process is catalyzed by a group of enzymes referred to as poly(ADP-ribose) polymerases (PARPs). Because the accumulation of proteins with this modification results in cell death, its negative regulation restores cellular homeostasis: a process mediated by poly-ADP ribose glycohydrolases (PARGs) and ADP-ribosylhydrolase proteins (ARHs). Using linkage analysis and exome or genome sequencing, we identified recessive inactivating mutations in ADPRHL2 in six families. Affected individuals exhibited a pediatric-onset neurodegenerative disorder with progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections. Loss of the Drosophila paralog Parg showed lethality in response to oxidative challenge that was rescued by human ADPRHL2 , suggesting functional conservation. Pharmacological inhibition of PARP also rescued the phenotype, suggesting the possibility of postnatal treatment for this genetic condition. [ABSTRACT FROM AUTHOR]

Published
2018
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17. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Author

Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, and De Grandis, Elisa

Subjects
*ATAXIA, *PEOPLE with epilepsy, *SYNDROMES
Published
2021
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