Concepedia

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

Keiko Shimojima, Midori Sugawara, Minobu Shichiji, Souichi Mukaida, Rumiko Takayama, Katsumi Imai, Toshiyuki Yamamoto

Journal of Human Genetics · 2011 · 84 citations · 10 references

DOI

Concepts

References

10

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 617 citations · Full text

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Collybistin, a newly identified brain-specific GEF, induces submembrane clustering of gephyrin

Stefan Kins, Heinrich Betz, Joachim Kirsch · Nature Neuroscience · 2000 · 282 citations

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The GDP-GTP Exchange Factor Collybistin: An Essential Determinant of Neuronal Gephyrin Clustering

Kirsten Harvey, Ian Duguid, Melissa J. Alldred et al. · Journal of Neuroscience · 2004 · 259 citations · Full text

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A balanced chromosomal translocation disrupting<i>ARHGEF9</i>is associated with epilepsy, anxiety, aggression, and mental retardation

Vera M. Kalscheuer, Luciana Musante, Cheng Fang et al. · Human Mutation · 2008 · 205 citations · Full text

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Identification and Characterization of hPEM-2, a Guanine Nucleotide Exchange Factor Specific for Cdc42

Tim Reid, Anja Bathoorn, Mohammad Reza Ahmadian et al. · Journal of Biological Chemistry · 1999 · 122 citations · Full text

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