Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3.
Animals
Autistic Disorder
/ genetics
Cell Adhesion Molecules, Neuronal
/ genetics
Comorbidity
DNA Mutational Analysis
Gastrointestinal Diseases
/ genetics
Gastrointestinal Microbiome
/ genetics
Gastrointestinal Transit
/ genetics
Gene Expression
/ genetics
Humans
Male
Membrane Proteins
/ genetics
Mice
Myenteric Plexus
/ physiopathology
Nerve Tissue Proteins
/ genetics
Neurons
/ physiology
Phenotype
autism
gastrointestinal symptoms
gut motility
immunofluorescence
mouse
neuroligin-3
Journal
Autism research : official journal of the International Society for Autism Research
ISSN: 1939-3806
Titre abrégé: Autism Res
Pays: United States
ID NLM: 101461858
Informations de publication
Date de publication:
07 2019
07 2019
Historique:
received:
10
02
2019
revised:
11
04
2019
accepted:
21
04
2019
pubmed:
24
5
2019
medline:
29
7
2020
entrez:
24
5
2019
Statut:
ppublish
Résumé
Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. Multiple mutations in the neuroligin family of synaptic adhesion molecules are implicated in autism, however whether they are expressed and impact GI function via changes in the enteric nervous system is unknown. We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin-3. We confirm the presence of an array of synaptic genes in the murine GI tract and investigate the impact of impaired synaptic protein expression in mice carrying the human neuroligin-3 R451C missense mutation (NL3
Identifiants
pubmed: 31119867
doi: 10.1002/aur.2127
pmc: PMC6606367
mid: NIHMS1028815
doi:
Substances chimiques
Cell Adhesion Molecules, Neuronal
0
Membrane Proteins
0
Nerve Tissue Proteins
0
neuroligin 3
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
1043-1056Subventions
Organisme : NIAID NIH HHS
ID : U01 AI124290
Pays : United States
Organisme : National Health and Medical Research Council
ID : APP1047674
Pays : International
Organisme : Royal Melbourne Hospital Neuroscience Foundation
Pays : International
Organisme : Australian Research Council Future Fellowship
ID : FT160100126
Pays : International
Organisme : NIAID NIH HHS
ID : R01 AI100914
Pays : United States
Organisme : Congressionally Directed Medical Research Programs
ID : AR110134
Pays : International
Organisme : National Health and Medical Research Council
ID : APP566642
Pays : International
Organisme : NIDDK NIH HHS
ID : P30 DK056338
Pays : United States
Organisme : RMIT Vice Chancellor's Senior Research Fellowship
Pays : International
Informations de copyright
© 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc.
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