Clinical and functional consequences of GRIA variants in patients with neurological diseases.

Humans Nervous System Diseases / genetics Synaptic Transmission / physiology Receptors, AMPA / genetics Synapses / metabolism
AMPA Channelopathy GRIA GluA Glutamate receptors Translational study

Journal

Cellular and molecular life sciences : CMLS
ISSN: 1420-9071
Titre abrégé: Cell Mol Life Sci
Pays: Switzerland
ID NLM: 9705402

Informations de publication

Date de publication:
03 Nov 2023
Historique:
received: 10 05 2023
accepted: 28 09 2023
revised: 27 09 2023
pmc-release: 03 11 2024
medline: 6 11 2023
pubmed: 3 11 2023
entrez: 3 11 2023
Statut: epublish

Résumé

AMPA receptors are members of the glutamate receptor family and mediate a fast component of excitatory synaptic transmission at virtually all central synapses. Thus, their functional characteristics are a critical determinant of brain function. We evaluate intolerance of each GRIA gene to genetic variation using 3DMTR and report here the functional consequences of 52 missense variants in GRIA1-4 identified in patients with various neurological disorders. These variants produce changes in agonist EC

Identifiants

DOI: 10.1007/s00018-023-04991-6 PMID: 37921875 PMC: PMC10754216
pubmed: 37921875
doi: 10.1007/s00018-023-04991-6
pii: 10.1007/s00018-023-04991-6
pmc: PMC10754216
mid: NIHMS1951325
doi:

Substances chimiques

Receptors, AMPA 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

345

Subventions

Organisme : NICHD NIH HHS
ID : P50 HD105351
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103538
Pays : United States
Organisme : NIMH NIH HHS
ID : MH127404
Pays : United States
Organisme : NINDS NIH HHS
ID : NS111619
Pays : United States
Organisme : NINDS NIH HHS
ID : R35 NS111619
Pays : United States
Organisme : NIMH NIH HHS
ID : R21 MH127404
Pays : United States

Informations de copyright

© 2023. The Author(s), under exclusive licence to Springer Nature Switzerland AG.

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Auteurs

Wenshu XiangWei (W)

Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.
Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
ORCID: 0000-0003-2456-4057

Riley E Perszyk (RE)

Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.

Nana Liu (N)

Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.
Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.

Yuchen Xu (Y)

Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Department of Neurology, The First Hospital of Wenzhou Medical University, Wenzhou, 325000, Zhejiang, China.

Subhrajit Bhattacharya (S)

Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
School of Pharmaceutical and Health Sciences, Keck Graduate Institute, Claremont Colleges, Claremont, CA, 91711, USA.

Gil H Shaulsky (GH)

Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA.

Constance Smith-Hicks (C)

Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.

Ali Fatemi (A)

Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.

Andrew E Fry (AE)

Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.
Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK.

Kate Chandler (K)

Manchester Centre for Genomic Medicine (MCGM), Manchester University NHS Foundation Trust, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.

Tao Wang (T)

Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.

Julie Vogt (J)

West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK.

Julie S Cohen (JS)

Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.

Alex R Paciorkowski (AR)

University of Rochester Medical Center, Child Neurology, 601 Elmwood Ave., Rochester, NY, 14642, USA.

Annapurna Poduri (A)

Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA.
Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.

Yuehua Zhang (Y)

Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.

Shuang Wang (S)

Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.

Yuping Wang (Y)

Department of Neurology, Center of Epilepsy, Beijing Key Laboratory of Neuromodulation, Institute of Sleep and Consciousness Disorders, Beijing Institute for Brain Disorders, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China.

Qiongxiang Zhai (Q)

Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.

Fang Fang (F)

Department of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100069, China.

Jie Leng (J)

Department Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, 450066, Henan, China.
Department of Endocrinology, Genetics and Metabolism, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Sichuan, 611731, China.

Kathryn Garber (K)

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.

Scott J Myers (SJ)

Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA.

Robin-Tobias Jauss (RT)

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.

Kristen L Park (KL)

Departments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.
ORCID: 0000-0001-5527-3047

Timothy A Benke (TA)

Departments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.
ORCID: 0000-0002-6969-5061

Johannes R Lemke (JR)

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.
ORCID: 0000-0002-4435-6610

Hongjie Yuan (H)

Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. hyuan@emory.edu.
Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA. hyuan@emory.edu.
ORCID: 0000-0002-8127-7145

Yuwu Jiang (Y)

Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China. jiangyuwu@bjmu.edu.cn.
ORCID: 0000-0002-5179-9807

Stephen F Traynelis (SF)

Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.
Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.
Emory Neurodegenerative Disease Center, Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.
ORCID: 0000-0002-3750-9615

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Clinical and functional consequences of GRIA...
questionsmedicales.fr › Maladies du système nerveux › Clinical and functional consequences of GRIA...
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Transmission synaptique › Clinical and functional consequences of GRIA...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs aux neuromédiateurs › Récepteurs aux acides aminés › Récepteurs au glutamate › Récepteurs ionotropes du glutamate › Récepteur de l'AMPA › Clinical and functional consequences of GRIA...
questionsmedicales.fr › Cellules › Structures cellulaires › Membrane cellulaire › Structures de la membrane cellulaire › Jonctions intercellulaires › Synapses › Clinical and functional consequences of GRIA...