Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA-Reference-Cited by-同舟云学术

Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA

Published:2021-09 Issue:1-2 Volume:134 Page:195-202
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Boulin Thomas,Itani Omar,El Mouridi Sonia,Leclercq-Blondel Alice,Gendrel Marie,Macnamara Ellen,Soldatos Ariane,Murphy Jennifer L.,Gorman Mark P.,Lindsey Anika,Shimada Shino,Turner Darian,Silverman Gary A.,Baldridge Dustin,Malicdan May C.,Schedl Tim,Pak Stephen C.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference40 articles.

1. Drosophila mutants of the autism candidate gene neurobeachin (rugose) exhibit neuro-developmental disorders, aberrant synaptic properties, altered locomotion, and impaired adult social behavior and activity patterns;Wise;J. Neurogenet.,2015

2. Drosophila rugose is a functional homolog of mammalian Neurobeachin and affects synaptic architecture, brain morphology, and associative learning;Volders;J. Neurosci.,2012

3. Neurobeachin is required postsynaptically for electrical and chemical synapse formation;Miller;Curr. Biol.,2015

4. Neurobeachin: a protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic;Wang;J. Neurosci.,2000

5. Dendritic spine formation and synaptic function require neurobeachin;Niesmann;Nat. Commun.,2011

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