Mutation of genes controlling mRNA metabolism and protein synthesis predisposes to neurodevelopmental disorders.

作者: Francesca Sartor , Jihan Anderson , Colin McCaig , Zosia Miedzybrodzka , Berndt Müller

DOI: 10.1042/BST20150168

关键词:

摘要: … RBM8a has an important role in the control of behaviour and neurogenesis. Overexpression of RBM8a … Furthermore, Smg1 mutations disrupt retinal and NMJ synaptic transmission and …

参考文章(54)
Brent R. Bill, Jennifer K. Lowe, Christina T. DyBuncio, Brent L. Fogel, Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder. International Review of Neurobiology. ,vol. 113, pp. 251- 267 ,(2013) , 10.1016/B978-0-12-418700-9.00008-3
H. Mao, L.-J. Pilaz, J. J. McMahon, C. Golzio, D. Wu, L. Shi, N. Katsanis, D. L. Silver, Rbm8a Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly The Journal of Neuroscience. ,vol. 35, pp. 7003- 7018 ,(2015) , 10.1523/JNEUROSCI.0018-15.2015
Tero Ylisaukko-oja, Maricela Alarcón, Rita M. Cantor, Mari Auranen, Raija Vanhala, Elli Kempas, Lennart von Wendt, Irma Järvelä, Daniel H. Geschwind, Leena Peltonen, Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families. Annals of Neurology. ,vol. 59, pp. 145- 155 ,(2006) , 10.1002/ANA.20722
Jeffrey Luo, Nancy Balkin, Julie F Stewart, John F Sarwark, Joel Charrow, Jeffrey S Nye, None, Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34. American Journal of Medical Genetics. ,vol. 91, pp. 227- 230 ,(2000) , 10.1002/(SICI)1096-8628(20000320)91:3<227::AID-AJMG14>3.0.CO;2-I
Vera M Kalscheuer, Kristine Freude, Luciana Musante, Lars R Jensen, Helger G Yntema, Jozef Gécz, Abdelaziz Sefiani, Kirsten Hoffmann, Bettina Moser, Stefan Haas, Ulf Gurok, Sebastian Haesler, Beatriz Aranda, Arpik Nshedjan, Andreas Tzschach, Nils Hartmann, Tim-Christoph Roloff, Sarah Shoichet, Olivier Hagens, Jiong Tao, Hans van Bokhoven, Gillian Turner, Jamel Chelly, Claude Moraine, Jean-Pierre Fryns, Ulrike Nuber, Maria Hoeltzenbein, Constance Scharff, Harry Scherthan, Steffen Lenzner, Ben C J Hamel, Susann Schweiger, Hans-Hilger Ropers, Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation Nature Genetics. ,vol. 35, pp. 313- 315 ,(2003) , 10.1038/NG1264
Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, Claudia Dufke, Claudia Bauer, Martin Kehrer, Christina Evers, Ute Moog, Barbara Oehl-Jaschkowitz, Nataliya Di Donato, Robert Maiwald, Christine Jung, Alma Kuechler, Solveig Schulz, Peter Meinecke, Stephanie Spranger, Jürgen Kohlhase, Jörg Seidel, Silke Reif, Manuela Rieger, Angelika Riess, Marc Sturm, Julia Bickmann, Christopher Schroeder, Andreas Dufke, Olaf Riess, Peter Bauer, Next-generation sequencing in X-linked intellectual disability European Journal of Human Genetics. ,vol. 23, pp. 1513- 1518 ,(2015) , 10.1038/EJHG.2015.5
Thomas C. Südhof, Neuroligins and Neurexins Link Synaptic Function to Cognitive Disease Nature. ,vol. 455, pp. 903- 911 ,(2008) , 10.1038/NATURE07456
Irina Voineagu, Xinchen Wang, Patrick Johnston, Jennifer K. Lowe, Yuan Tian, Steve Horvath, Jonathan Mill, Rita M. Cantor, Benjamin J. Blencowe, Daniel H. Geschwind, Transcriptomic analysis of autistic brain reveals convergent molecular pathology Nature. ,vol. 474, pp. 380- 384 ,(2011) , 10.1038/NATURE10110
Xudong Liu, Patrick Malenfant, Chelsea Reesor, Alana Lee, Melissa L Hudson, Chansonette Harvard, Ying Qiao, Antonio M Persico, Ira L Cohen, Albert E Chudley, Cynthia Forster-Gibson, Evica Rajcan-Separovic, ME Suzanne Lewis, Jeanette JA Holden, 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders. European Journal of Human Genetics. ,vol. 19, pp. 1264- 1270 ,(2011) , 10.1038/EJHG.2011.112