Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Cheryl Shoubridge; Patrick S Tarpey; Fatima Abidi; Sarah L Ramsden; Sinitdhorn Rujirabanjerd; Jessica A Murphy; Jackie Boyle; Marie Shaw; Alison Gardner; Anne Proos; Helen Puusepp; F Lucy Raymond; Charles E Schwartz; Roger E Stevenson; Gill Turner; Michael Field; Randall S Walikonis; Robert J Harvey; Anna Hackett; P Andrew Futreal; Michael R Stratton; Jozef Gécz

doi:10.1038/ng.588

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Nature Genetics ◽

10.1038/ng.588 ◽

2010 ◽

Vol 42 (6) ◽

pp. 486-488 ◽

Cited By ~ 97

Author(s):

Cheryl Shoubridge ◽

Patrick S Tarpey ◽

Fatima Abidi ◽

Sarah L Ramsden ◽

Sinitdhorn Rujirabanjerd ◽

...

Keyword(s):

Intellectual Disability ◽

Guanine Nucleotide Exchange Factor ◽

Guanine Nucleotide ◽

Nucleotide Exchange ◽

Factor Gene ◽

Exchange Factor ◽

Guanine Nucleotide Exchange ◽

Nucleotide Exchange Factor

Download Full-text

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

Small GTPases ◽

10.4161/sgtp.1.2.13285 ◽

2010 ◽

Vol 1 (2) ◽

pp. 98-103 ◽

Cited By ~ 22

Author(s):

Cheryl Shoubridge ◽

Randall S. Walikonis ◽

Jozef Gécz ◽

Robert J. Harvey

Keyword(s):

Intellectual Disability ◽

Guanine Nucleotide Exchange Factor ◽

Guanine Nucleotide ◽

Nucleotide Exchange ◽

Exchange Factor ◽

Guanine Nucleotide Exchange ◽

Nucleotide Exchange Factor ◽

Functional Defects

Download Full-text

Faculty Opinions recommendation of A bacterial guanine nucleotide exchange factor activates ARF on Legionella phagosomes.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1004087.46755 ◽

2002 ◽

Author(s):

Emmanuelle Caron

Keyword(s):

Guanine Nucleotide Exchange Factor ◽

Guanine Nucleotide ◽

Nucleotide Exchange ◽

Exchange Factor ◽

Guanine Nucleotide Exchange ◽

Nucleotide Exchange Factor

Download Full-text

Faculty Opinions recommendation of Overexpression of an ADP-ribosylation factor-guanine nucleotide exchange factor, BIG2, uncouples brefeldin A-induced adaptor protein-1 coat dissociation and membrane tubulation.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1006014.72106 ◽

2002 ◽

Author(s):

Sean Munro

Keyword(s):

Brefeldin A ◽

Adaptor Protein ◽

Guanine Nucleotide Exchange Factor ◽

Guanine Nucleotide ◽

Nucleotide Exchange ◽

Exchange Factor ◽

Guanine Nucleotide Exchange ◽

Nucleotide Exchange Factor ◽

Membrane Tubulation ◽

Adp Ribosylation Factor

Download Full-text

Faculty Opinions recommendation of P-Rex1, a PtdIns(3,4,5)P3- and Gbetagamma-regulated guanine-nucleotide exchange factor for Rac.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1005684.103507 ◽

2002 ◽

Author(s):

Yoshimi Takai

Keyword(s):

Guanine Nucleotide Exchange Factor ◽

Guanine Nucleotide ◽

Nucleotide Exchange ◽

Exchange Factor ◽

Guanine Nucleotide Exchange ◽

Nucleotide Exchange Factor

Download Full-text

Faculty Opinions recommendation of Ypt32 recruits the Sec4p guanine nucleotide exchange factor, Sec2p, to secretory vesicles; evidence for a Rab cascade in yeast.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1009246.182473 ◽

2003 ◽

Author(s):

Catherine Jackson

Keyword(s):

Guanine Nucleotide Exchange Factor ◽

Secretory Vesicles ◽

Guanine Nucleotide ◽

Nucleotide Exchange ◽

Exchange Factor ◽

Guanine Nucleotide Exchange ◽

Nucleotide Exchange Factor

Download Full-text

Faculty Opinions recommendation of Mammalian Ric-8A (synembryn) is a heterotrimeric Galpha protein guanine nucleotide exchange factor.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1011169.177910 ◽

2003 ◽

Author(s):

T Kendall Harden

Keyword(s):

Guanine Nucleotide Exchange Factor ◽

Guanine Nucleotide ◽

Nucleotide Exchange ◽

Exchange Factor ◽

Guanine Nucleotide Exchange ◽

Nucleotide Exchange Factor

Download Full-text

Faculty Opinions recommendation of Structural snapshots of the mechanism and inhibition of a guanine nucleotide exchange factor.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1017285.202483 ◽

2004 ◽

Author(s):

Anne-Catherine Dock-Bregeon

Keyword(s):

Guanine Nucleotide Exchange Factor ◽

Guanine Nucleotide ◽

Nucleotide Exchange ◽

Exchange Factor ◽

Guanine Nucleotide Exchange ◽

Nucleotide Exchange Factor

Download Full-text

Faculty Opinions recommendation of Specific Isoforms of the Guanine-Nucleotide Exchange Factor dPix Couple Neuromuscular Synapse Growth to Muscle Growth.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.738101124.793575474 ◽

2020 ◽

Author(s):

Michael O'Connor

Keyword(s):

Muscle Growth ◽

Neuromuscular Synapse ◽

Guanine Nucleotide Exchange Factor ◽

Guanine Nucleotide ◽

Nucleotide Exchange ◽

Exchange Factor ◽

Guanine Nucleotide Exchange ◽

Nucleotide Exchange Factor

Download Full-text

BIG1 as a Potential Guanine Nucleotide Exchange Factor for Rheb

10.21236/ada470639 ◽

2006 ◽

Author(s):

Kun-Liang Guan

Keyword(s):

Guanine Nucleotide Exchange Factor ◽

Guanine Nucleotide ◽

Nucleotide Exchange ◽

Exchange Factor ◽

Guanine Nucleotide Exchange ◽

Nucleotide Exchange Factor

Download Full-text

Structural Basis for the Dual Substrate Specificity of DOCK7 Guanine Nucleotide Exchange Factor

SSRN Electronic Journal ◽

10.2139/ssrn.3249473 ◽

2018 ◽

Author(s):

Mutsuko Kukimoto-Niino ◽

Kengo Tsuda ◽

Kentaro Ihara ◽

Chiemi Mishima-Tsumagari ◽

Keiko Honda ◽

...

Keyword(s):

Substrate Specificity ◽

Guanine Nucleotide Exchange Factor ◽

Structural Basis ◽

Guanine Nucleotide ◽

Nucleotide Exchange ◽

Exchange Factor ◽

Guanine Nucleotide Exchange ◽

Nucleotide Exchange Factor ◽

Dual Substrate Specificity ◽

Dual Substrate

Download Full-text