Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly-Reference-Cited by-同舟云学术

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Published:2010-02 Issue:2 Volume:86 Page:185-195
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Giannandrea Maila,Bianchi Veronica,Mignogna Maria Lidia,Sirri Alessandra,Carrabino Salvatore,D'Elia Errico,Vecellio Matteo,Russo Silvia,Cogliati Francesca,Larizza Lidia,Ropers Hans-Hilger,Tzschach Andreas,Kalscheuer Vera,Oehl-Jaschkowitz Barbara,Skinner Cindy,Schwartz Charles E.,Gecz Jozef,Van Esch Hilde,Raynaud Martine,Chelly Jamel,de Brouwer Arjan P.M.,Toniolo Daniela,D'Adamo Patrizia

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. Nonspecific X-linked mental retardation I: A review with information from 24 new families;Herbst;Am. J. Med. Genet.,1980

2. Mutations in GDI1 are responsible for X-linked non-specific mental retardation;D'Adamo;Nat. Genet.,1998

3. Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice;D'Adamo;Hum. Mol. Genet.,2002

4. Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training;Bianchi;Hum. Mol. Genet.,2009

5. The mammalian Rab family of small GTPases: Definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the Ras superfamily;Pereira-Leal;J. Mol. Biol.,2000

Cited by 206 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. SNX5-Rab11a protects against cardiac hypertrophy through regulating LRP6 membrane translocation;Journal of Molecular and Cellular Cardiology;2024-09

2. A critical review of the impact of candidate copy number variants on autism spectrum disorder;Mutation Research - Reviews in Mutation Research;2024-07

3. Novel RAB39B loss-of-function mutation in patient with typical early-onset Parkinson's disease;Parkinsonism & Related Disorders;2024-06

4. Central Causation of Autism/ASDs via Excessive [Ca2+]i Impacting Six Mechanisms Controlling Synaptogenesis during the Perinatal Period: The Role of Electromagnetic Fields and Chemicals and the NO/ONOO(-) Cycle, as Well as Specific Mutations;Brain Sciences;2024-04-30

5. De novo variants in DENND5B cause a neurodevelopmental disorder;The American Journal of Human Genetics;2024-03