Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Liam Crapper"'
Autor:
Thad A. Rosenberger, Patrick S. Stumpf, Naguib Mechawar, Carl Ernst, Liam Crapper, Nahum Sonenberg, Luc Moquin, Liam Anuj O’Leary, Jelena Popic, Andreas Schuppert, Xin Zhang, Hyder A. Jinnah, Scott C. Bell, Huashan Peng, Ilse Gantois, Alain Gratton, Michel L. Tremblay, Lilit Antonyan, Hanrong Wu, Diane J. Sutcliffe, Nuwan C. Hettige, Malvin Jefri, Vincent McCarty, Ying Zhang, Ilaria Kolobova
Publikováno v:
Stem Cell Reports
Stem cell reports 16(7), 1749-1762 (2021). doi:10.1016/j.stemcr.2021.06.003
Stem cell reports 16(7), 1749-1762 (2021). doi:10.1016/j.stemcr.2021.06.003
Summary Mutations in HPRT1, a gene encoding a rate-limiting enzyme for purine salvage, cause Lesch-Nyhan disease which is characterized by self-injury and motor impairments. We leveraged stem cell and genetic engineering technologies to model the dis
Autor:
Gilles Maussion, Scott C. Bell, Tak Pan Wong, Carl Ernst, Ilaria Kolobova, Cristina Vasuta, Huashan Peng, Liam Crapper, Volodymyr Yerko
Publikováno v:
Stem Cells Translational Medicine
The development of targeted therapeutics for rare neurodevelopmental disorders (NDDs) faces significant challenges due to the scarcity of subjects and the difficulty of obtaining human neural cells. Here, we illustrate a rapid, simple protocol by whi
Publikováno v:
Molecular Syndromology. 7:302-311
Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characte
Autor:
Patrícia P.O. Rocha, Juliana G. Giannetti, Marzia Pollazzon, Alessandro Iodice, Maria Marinelli, Satz Mengensatzproduktion, Ilaria Kolobova, Elvis C. Mateo, Patrícia R. de M. Lima, Manuela Napoli, Ivan Ivanovski, Tiong Yang Tan, Martin Poot, Elga Fabia Belligni, Joziele de S. Lima, Siulan Vendramini-Pittoli, Livia Garavelli, Rafaella X. Pietra, Bruno F. Gamba, Carlo Fusco, Charles Coutton, Veronica Barbieri, Giovana da C. César, Roseli Maria Zechi-Ceide, Mariana Lacerda de Freitas, Luana Assis Ferreira, Paula Frassinetti Vasconcelos de Medeiros, Gabrielle S. Vianna, Michele da S. Gonçalves, Nicky Kilpatrick, Francesca Madia, Anthony J. Penington, Chiara Sartori, Jessie X. Xu, Nancy Mizue Kokitsu-Nakata, Manuela Mussini, Fernanda S. Jehee, Fabrizia Franchi, Maria E. Street, Carla Rosenberg, Patrick Yap, Liam Crapper, Antonio Richieri-Costa, Rejane A.C. Monteiro, Rosana R. Xavier, Ilenia Maini, Naomi L. Baker, Scott C. Bell, Maria Augusta N.P. Monteiro, Valdirene T. de Oliveira, Simonetta Rosato, Ana C.V. Krepischi Santos, Druckerei Stückle, Carl Ernst, Rosario Pascarella, Andréia M. Carvalho, Lucilene Arilho Ribeiro-Bicudo, Peter G. Farlie
Publikováno v:
Molecular Syndromology. 7:I-VI
Autor:
Gary G. Chen, Gilles Maussion, Liam Crapper, Carl Ernst, Alpha B. Diallo, Carolina Oliveira Gigek, Cristina Vasuta, Jean-François Théroux, Elizabeth Suchi Chen
Publikováno v:
Human Genetics. 134:1037-1053
Several neurodevelopmental disorders (NDDs) are caused by mutations in genes expressed in fetal brain, but little is known about these same genes in adult human brain. Here, we test the hypothesis that genes associated with NDDs continue to have a ro
Autor:
Liam Crapper, Carl Ernst
Publikováno v:
Pediatric Clinics of North America. 62:619-631
Self-injury is a complex and poorly understood behavior observed in people with psychopathology or neurodevelopmental disorders (NDD). Despite the differences in etiology and progression of these distinct disease domains, it is possible that overlapp
Autor:
Jacques L. Michaud, Guy A. Rouleau, Carl Ernst, Huashan Peng, Baudouin Forgeot d’Arc, Nancy D. Merner, Fadi F. Hamdan, Gilles Maussion, Laurent Mottron, Julie Gauthier, Liam Crapper, Scott C. Bell
Publikováno v:
American journal of medical genetics. Part A. (5)
Mutations in chromodomain helicase DNA-binding domain 8 (CHD8) have been identified in independent genotyping studies of autism spectrum disorder. To better understand the phenotype associated with CHD8 mutations, we genotyped all CHD8 exons in caref
Autor:
Pamela Sklar, Jill A. Rosenfeld, Kay Metcalfe, Bai-Lin Wu, Bradley F. Quade, Dimitri J. Stavropoulos, Christian R. Marshall, Shaun Purcell, Jennelle C. Hodge, David J. Harris, Stephen W. Scherer, Yiping Shen, Anne C. Spencer, Robert S. Wildin, Alcy Torres, Liam Crapper, Cynthia C. Morton, James F. Gusella, Michael E. Talkowski, Colby Chiang, Alpha B. Diallo, Ian Blumenthal, Lisa G. Shaffer, Michael T. Geraghty, Shahrin Pereira, Carl Ernst, Douglas M. Ruderfer, Emanuelle Lemyre, Vamsee Pillalamarri
Publikováno v:
Archives of general psychiatry. 69(12)
Context Brain-derived neurotrophic factor (BDNF) is suspected of being a causative factor in psychiatric disorders based on case reports or studies involving large structural anomalies. Objective To determine the involvement of BDNF in human psychopa
Autor:
Liam Crapper, Alpha B. Diallo, Elizabeth Suchi Chen, Huashan Peng, Cristina Vasuta, Gang G. Chen, Gilles Maussion, Carolina Oliveira Gigek, Kathryn Vaillancourt, Vanessa Kiyomi Ota, Carl Ernst, Juan Pablo Lopez
Publikováno v:
Translational Psychiatry
Genes implicated in neurodevelopmental disorders (NDDs) important in cognition and behavior may have convergent function and several cellular pathways have been implicated, including protein translational control, chromatin modification, and synapse
Autor:
Marissa Maheu, Maria Antonietta Davoli, Juan Pablo Lopez, Naguib Mechawar, Liam Crapper, Gustavo Turecki
Publikováno v:
Translational Psychiatry
Although multiple studies have reported that peripheral glial cell line-derived neurotrophic factor (GDNF) is reduced in depression, cerebral GDNF signalling has yet to be examined in this condition. Here, we report an isoform-specific decrease in GD