Neuronal impact of patient-specific aberrant NRXN1α splicing.


Journal

Nature genetics
ISSN: 1546-1718
Titre abrégé: Nat Genet
Pays: United States
ID NLM: 9216904

Informations de publication

Date de publication:
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

1679-1690

Subventions

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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Auteurs

Erin Flaherty (E)

Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Graduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Shijia Zhu (S)

Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Liver Tumor Translational Research Program, Harold C. Simmons Comprehensive Cancer Center, Division of Digestive and Liver Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Natalie Barretto (N)

Graduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Esther Cheng (E)

Graduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

P J Michael Deans (PJM)

Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Michael B Fernando (MB)

Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Graduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Nadine Schrode (N)

Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Nancy Francoeur (N)

Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Alesia Antoine (A)

Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Khaled Alganem (K)

Department of Neurosciences, Institute in the College of Medicine & Life Sciences, The University of Toledo, Toledo, OH, USA.

Madeline Halpern (M)

Graduate School of Biomedical Science, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Gintaras Deikus (G)

Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Hardik Shah (H)

Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Megan Fitzgerald (M)

Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Ian Ladran (I)

Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Peter Gochman (P)

Childhood Psychiatry Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.

Judith Rapoport (J)

Childhood Psychiatry Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.

Nadejda M Tsankova (NM)

Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Robert McCullumsmith (R)

Department of Neurosciences, Institute in the College of Medicine & Life Sciences, The University of Toledo, Toledo, OH, USA.

Gabriel E Hoffman (GE)

Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Robert Sebra (R)

Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Gang Fang (G)

Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. gang.fang@mssm.edu.
Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. gang.fang@mssm.edu.

Kristen J Brennand (KJ)

Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA. kristen.brennand@mssm.edu.
Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. kristen.brennand@mssm.edu.
Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. kristen.brennand@mssm.edu.
Icahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. kristen.brennand@mssm.edu.
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA. kristen.brennand@mssm.edu.
Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. kristen.brennand@mssm.edu.

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