Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense Variants.


Journal

The Journal of neuroscience : the official journal of the Society for Neuroscience
ISSN: 1529-2401
Titre abrégé: J Neurosci
Pays: United States
ID NLM: 8102140

Informations de publication

Date de publication:
08 07 2020
Historique:
received: 29 12 2019
revised: 24 05 2020
accepted: 26 05 2020
pubmed: 7 6 2020
medline: 27 11 2020
entrez: 7 6 2020
Statut: ppublish

Résumé

Missense variants in Kirrel3 are repeatedly identified as risk factors for autism spectrum disorder and intellectual disability, but it has not been reported if or how these variants disrupt Kirrel3 function. Previously, we studied Kirrel3 loss of function using KO mice and showed that Kirrel3 is a synaptic adhesion molecule necessary to form one specific type of hippocampal synapse

Identifiants

pubmed: 32503885
pii: JNEUROSCI.3058-19.2020
doi: 10.1523/JNEUROSCI.3058-19.2020
pmc: PMC7343328
doi:

Substances chimiques

Kirrel3 protein, mouse 0
Membrane Proteins 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

5376-5388

Subventions

Organisme : NIMH NIH HHS
ID : R01 MH105426
Pays : United States
Organisme : NIMH NIH HHS
ID : R56 MH105426
Pays : United States

Informations de copyright

Copyright © 2020 the authors.

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Auteurs

Matthew R Taylor (MR)

Department of Neurobiology and Anatomy, University of Utah School of Medicine, Salt Lake City, Utah 84112.

E Anne Martin (EA)

Department of Neurobiology and Anatomy, University of Utah School of Medicine, Salt Lake City, Utah 84112.

Brooke Sinnen (B)

Department of Neurobiology and Anatomy, University of Utah School of Medicine, Salt Lake City, Utah 84112.

Rajdeep Trilokekar (R)

Department of Neurobiology and Anatomy, University of Utah School of Medicine, Salt Lake City, Utah 84112.

Emmanuelle Ranza (E)

Service of Genetic Medicine, Geneva University Hospitals, 1211 Geneva 14, Switzerland.

Stylianos E Antonarakis (SE)

Service of Genetic Medicine, Geneva University Hospitals, 1211 Geneva 14, Switzerland.
Department of Genetic Medicine and Development, University of Geneva Medical Faculty, 1211 Geneva 4, Switzerland.

Megan E Williams (ME)

Department of Neurobiology and Anatomy, University of Utah School of Medicine, Salt Lake City, Utah 84112 megan.williams@neuro.utah.edu.

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Classifications MeSH