RyR1-related myopathy mutations in ATP and calcium binding sites impair channel regulation.

Animals Binding Sites Calcium / metabolism Calcium Signaling / genetics HEK293 Cells Humans Microsomes / metabolism Muscle Weakness / genetics Muscle, Skeletal / metabolism Muscular Diseases / genetics Mutation Rabbits Receptors, Purinergic P2 / genetics Ryanodine Receptor Calcium Release Channel / genetics

Journal

Acta neuropathologica communications
ISSN: 2051-5960
Titre abrégé: Acta Neuropathol Commun
Pays: England
ID NLM: 101610673

Informations de publication

Date de publication:
22 11 2021
Historique:
received: 26 10 2021
accepted: 31 10 2021
entrez: 23 11 2021
pubmed: 24 11 2021
medline: 11 3 2022
Statut: epublish

Résumé

The type 1 ryanodine receptor (RyR1) is an intracellular calcium (Ca

Identifiants

DOI: 10.1186/s40478-021-01287-3 PMID: 34809703 PMC: PMC8609856
pubmed: 34809703
doi: 10.1186/s40478-021-01287-3
pii: 10.1186/s40478-021-01287-3
pmc: PMC8609856
doi:

Substances chimiques

Receptors, Purinergic P2 0
Ryanodine Receptor Calcium Release Channel 0
Calcium SY7Q814VUP

Types de publication

Journal Article Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

186

Subventions

Organisme : NHLBI NIH HHS
ID : T32 HL120826
Pays : United States
Organisme : NIH HHS
ID : R01AR070194
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK118240
Pays : United States
Organisme : NIH HHS
ID : R01HL142903
Pays : United States
Organisme : NIH HHS
ID : R01HL140934
Pays : United States
Organisme : NINDS NIH HHS
ID : R25 NS076445
Pays : United States
Organisme : NIH HHS
ID : R01DK118240
Pays : United States
Organisme : NIH HHS
ID : R25 NS076445
Pays : United States
Organisme : NIH HHS
ID : T32HL120826
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL145473
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL142903
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL140934
Pays : United States
Organisme : NIH HHS
ID : R01HL145473
Pays : United States

Informations de copyright

© 2021. The Author(s).

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Auteurs

Qi Yuan (Q)

Department of Physiology and Cellular Biophysics, Vagelos College of Physicians and Surgeons of Columbia University, New York, NY, 10032, USA.

Haikel Dridi (H)

Department of Physiology and Cellular Biophysics, Vagelos College of Physicians and Surgeons of Columbia University, New York, NY, 10032, USA.

Oliver B Clarke (OB)

Department of Physiology and Cellular Biophysics, Vagelos College of Physicians and Surgeons of Columbia University, New York, NY, 10032, USA.
Department of Anesthesiology, Vagelos College of Physicians and Surgeons of Columbia University, New York, NY, 10032, USA.
Wu Center for Molecular Cardiology, Vagelos College of Physicians and Surgeons of Columbia University, Russ Berrie Medical Science Pavilion, 1150 St. Nicholas Avenue, New York, NY, 10032, USA.

Steven Reiken (S)

Department of Physiology and Cellular Biophysics, Vagelos College of Physicians and Surgeons of Columbia University, New York, NY, 10032, USA.

Zephan Melville (Z)

Department of Physiology and Cellular Biophysics, Vagelos College of Physicians and Surgeons of Columbia University, New York, NY, 10032, USA.

Anetta Wronska (A)

Department of Physiology and Cellular Biophysics, Vagelos College of Physicians and Surgeons of Columbia University, New York, NY, 10032, USA.

Alexander Kushnir (A)

Department of Physiology and Cellular Biophysics, Vagelos College of Physicians and Surgeons of Columbia University, New York, NY, 10032, USA.

Ran Zalk (R)

Ilse Katz Institute for Nanoscale Science and Technology, Ben Gurion University of the Negev, Beersheba, Israel.

Leah Sittenfeld (L)

Department of Physiology and Cellular Biophysics, Vagelos College of Physicians and Surgeons of Columbia University, New York, NY, 10032, USA.

Andrew R Marks (AR)

Department of Physiology and Cellular Biophysics, Vagelos College of Physicians and Surgeons of Columbia University, New York, NY, 10032, USA. arm42@columbia.edu.
Wu Center for Molecular Cardiology, Vagelos College of Physicians and Surgeons of Columbia University, Russ Berrie Medical Science Pavilion, 1150 St. Nicholas Avenue, New York, NY, 10032, USA. arm42@columbia.edu.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › Phénomènes chimiques › Phénomènes biochimiques › Sites de fixation › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › Facteurs biologiques › Facteurs de la coagulation sanguine › Calcium › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Transduction du signal › Systèmes de seconds messagers › Signalisation calcique › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › Cellules › Cellules épithéliales › Cellules HEK293 › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › Cellules › Structures cellulaires › Fractions subcellulaires › Microsomes › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Manifestations neuromusculaires › Faiblesse musculaire › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › Tissus › Muscles › Muscle strié › Muscles squelettiques › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies musculaires › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Lagomorpha › Lapins › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs aux neuromédiateurs › Récepteurs purinergiques › Récepteurs purinergiques P2 › RyR1-related myopathy mutations in ATP and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux calciques › Canal de libération du calcium du récepteur à la ryanodine › RyR1-related myopathy mutations in ATP and...