Neuronal impact of patient-specific aberrant NRXN1α splicing.
Alternative Splicing
Animals
Autism Spectrum Disorder
/ genetics
Bipolar Disorder
/ genetics
Calcium-Binding Proteins
/ genetics
Case-Control Studies
Depressive Disorder, Major
/ genetics
Female
Gene Expression
Heterozygote
Humans
Induced Pluripotent Stem Cells
/ physiology
Male
Mice
Neural Cell Adhesion Molecules
/ genetics
Protein Isoforms
/ genetics
Schizophrenia
/ genetics
Sequence Deletion
Journal
Nature genetics
ISSN: 1546-1718
Titre abrégé: Nat Genet
Pays: United States
ID NLM: 9216904
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
06
03
2019
accepted:
25
10
2019
entrez:
1
12
2019
pubmed:
1
12
2019
medline:
18
1
2020
Statut:
ppublish
Résumé
NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human induced pluripotent stem cell (hiPSC)-derived neurons well represent the diversity of NRXN1α alternative splicing observed in the human brain, cataloguing 123 high-confidence in-frame human NRXN1α isoforms. Patient-derived NRXN1
Identifiants
pubmed: 31784728
doi: 10.1038/s41588-019-0539-z
pii: 10.1038/s41588-019-0539-z
pmc: PMC7451045
mid: NIHMS1541546
doi:
Substances chimiques
Calcium-Binding Proteins
0
NRXN1 protein, human
0
Neural Cell Adhesion Molecules
0
Nrxn1 protein, mouse
0
Protein Isoforms
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
1679-1690Subventions
Organisme : NIMH NIH HHS
ID : F31 MH112285
Pays : United States
Organisme : NIH HHS
ID : S10 OD018522
Pays : United States
Organisme : NIMH NIH HHS
ID : R21 MH107916
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH106056
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH107487
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH101454
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH121074
Pays : United States
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