Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures-Reference-Cited by-同舟云学术

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

Published:2013-02-07 Issue:10 Volume:22 Page:2055-2066
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Lionel Anath C.,Vaags Andrea K.,Sato Daisuke,Gazzellone Matthew J.,Mitchell Elyse B.,Chen Hong Yang,Costain Gregory,Walker Susan,Egger Gerald,Thiruvahindrapuram Bhooma,Merico Daniele,Prasad Aparna,Anagnostou Evdokia,Fombonne Eric,Zwaigenbaum Lonnie,Roberts Wendy,Szatmari Peter,Fernandez Bridget A.,Georgieva Lyudmila,Brzustowicz Linda M.,Roetzer Katharina,Kaschnitz Wolfgang,Vincent John B.,Windpassinger Christian,Marshall Christian R.,Trifiletti Rosario R.,Kirmani Salman,Kirov George,Petek Erwin,Hodge Jennelle C.,Bassett Anne S.,Scherer Stephen W.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/22/10/2055/17258819/ddt056.pdf

Reference101 articles.

1. Gephyrin, the enigmatic organizer at GABAergic synapses;Tretter;Front. Cell Neurosci.,2012

2. Gephyrin: where do we stand, where do we go?;Fritschy;Trends Neurosci.,2008

3. Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein;Prior;Neuron,1992

4. Gephyrin antisense oligonucleotides prevent glycine receptor clustering in spinal neurons;Kirsch;Nature,1993

5. Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin;Essrich;Nat. Neurosci.,1998

Cited by 133 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Transcriptional and cellular response of hiPSC-derived microglia-neural progenitor co-cultures exposed to IL-6;Brain, Behavior, and Immunity;2024-11

2. Gephyrin phosphorylation facilitates sexually dimorphic development and function of parvalbumin interneurons in the mouse hippocampus;Molecular Psychiatry;2024-03-19

3. Redox-dependent synaptic clustering of gephyrin;2024-03-17

4. Nonperfusion of the Far Peripheral Retina in Highly Myopic Stickler Syndrome;Journal of VitreoRetinal Diseases;2024-03-13

5. The impact of maternal immune activation on GABAergic interneuron development: A systematic review of rodent studies and their translational implications;Neuroscience & Biobehavioral Reviews;2024-01