Results 181 to 190 of about 2,263,137 (364)
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Annals of Neurology, EarlyView.Objective
Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth +140 morewiley +1 more sourceThe genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Nature Genetics, 2016 C. Redin, H. Brand, Ryan L. Collins, T. Kammin, Elyse B Mitchell, Jennelle C Hodge, Carrie Hanscom, V. Pillalamarri, C. Seabra, M. Abbott, Omar Abdul-Rahman, E. Åberg, Rhett Adley, S. Alcaraz-Estrada, F. Alkuraya, Y. An, M. Anderson, Caroline Antolik, K. Anyane-Yeboa, Joan F. Atkin, Tina M Bartell, Jonathan A Bernstein, Elizabeth Beyer, Ian Blumenthal, E. Bongers, E. H. Brilstra, Chester W. Brown, H. Brüggenwirth, B. Callewaert, Colby Chiang, K. Corning, H. Cox, E. Cuppen, Benjamin Currall, T. Cushing, D. David, M. Deardorff, A. Dheedene, M. D’hooghe, B. Vries, Dawn L. Earl, H. Ferguson, Heather Fisher, David R Fitzpatrick, P. Gerrol, D. Giachino, J. Glessner, Troy J. Gliem, M. Grady, Brett H. Graham, Cristin Griffis, K. Gripp, A. Gropman, Andrea Hanson‐Kahn, David J Harris, M. Hayden, Rosamund Hill, R. Hochstenbach, Jodi D. Hoffman, R. J. Hopkin, M. W. Hubshman, A. M. Innes, M. Irons, M. Irving, J. Jacobsen, S. Janssens, T. Jewett, John P Johnson, M. Jongmans, Stephen Kahler, D. Koolen, J. Korzelius, P. Kroisel, Y. Lacassie, W. Lawless, E. Lemyre, K. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, E. Lose, D. Lucente, M. Macera, Poornima Manavalan, G. Mandrile, Carlo L. Marcelis, L. Margolin, Tamara Mason, D. Masser-Frye, Michael W. McClellan, Cinthya J Zepeda Mendoza, B. Menten, Sjors Middelkamp, L. Mikami, Emily J. Moe, S. Mohammed, T. Mononen, Megan Mortenson, Graciela Moya, A. Nieuwint, Zehra Ordulu, S. Parkash, Susan P Pauker, S. Pereira, Danielle L Perrin, K. Phelan, Raul E Piña Aguilar, P. Poddighe, Giulia Pregno, S. Raskin, L. Reis, W. Rhead, D. Rita, I. Renkens, F. Roelens, Jayla Ruliera, P. Rump, Samantha L. P. Schilit, R. Shaheen, R. Sparkes, Erica S. Spiegel, B. Stevens, M. Stone, Julia Tagoe, J. Thakuria, B. V. Bon, Jiddeke van de Kamp, I. Burgt, T. Essen, C. V. Ravenswaaij-Arts, M. V. Roosmalen, S. Vergult, Catharina M. L. Volker-Touw, Dorothy P Warburton, Matthew J. Waterman, S. Wiley, Anna Wilson, Maria de la Concepcion A Yerena-de Vega, Roberto T Zori, B. Levy, Han G. Brunner, N. Leeuw, W. Kloosterman, E. Thorland, Cynthia C Morton, J. Gusella, M. Talkowski +148 moresemanticscholar +1 more sourceResilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6
Annals of Neurology, EarlyView.Objective
An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai +10 morewiley +1 more source
