ATP1A1-linked diseases require a malfunctioning protein product from one allele.

Adult Humans Animals Mice Alleles Sodium-Potassium-Exchanging ATPase / genetics Protein Isoforms / genetics Charcot-Marie-Tooth Disease / genetics
ATP1A1 Active transport Charcot Marie Tooth Hyperaldosteronism Inherited neuropathy Na(+),K(+)-ATPase P-type ATPase

Journal

Biochimica et biophysica acta. Molecular cell research
ISSN: 1879-2596
Titre abrégé: Biochim Biophys Acta Mol Cell Res
Pays: Netherlands
ID NLM: 101731731

Informations de publication

Date de publication:
Jan 2024
Historique:
received: 28 02 2023
revised: 06 07 2023
accepted: 22 08 2023
medline: 27 11 2023
pubmed: 3 9 2023
entrez: 2 9 2023
Statut: ppublish

Résumé

Heterozygous germline variants in ATP1A1, the gene encoding the α1 subunit of the Na

Identifiants

DOI: 10.1016/j.bbamcr.2023.119572 PMID: 37659504
pubmed: 37659504
pii: S0167-4889(23)00145-3
doi: 10.1016/j.bbamcr.2023.119572
pii:
doi:

Substances chimiques

Sodium-Potassium-Exchanging ATPase EC 7.2.2.13
Protein Isoforms 0
ATP1A1 protein, human EC 3.6.1.-

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

119572

Subventions

Organisme : NINDS NIH HHS
ID : R03 NS116433
Pays : United States

Commentaires et corrections

Type : UpdateOf

Informations de copyright

Copyright © 2023. Published by Elsevier B.V.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Pablo Artigas reports financial support was provided by National Institutes of Health.

Auteurs

Kerri Spontarelli (K)

Department of Cell Physiology and Molecular Biophysics, Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA.

Victoria C Young (VC)

Department of Cell Physiology and Molecular Biophysics, Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA.

Ryan Sweazey (R)

Department of Cell Physiology and Molecular Biophysics, Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA.

Alexandria Padro (A)

Department of Cell Physiology and Molecular Biophysics, Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA.

Jeannie Lee (J)

Department of Neurology, Texas Tech University Health Sciences Center, Lubbock, TX, USA.

Tulio Bueso (T)

Department of Neurology, Texas Tech University Health Sciences Center, Lubbock, TX, USA.

Roberto M Hernandez (RM)

Department of Neurology, Texas Tech University Health Sciences Center, Lubbock, TX, USA.

Jongyeol Kim (J)

Department of Neurology, Texas Tech University Health Sciences Center, Lubbock, TX, USA.

Alexander Katz (A)

NIH Reverse Phenotyping Core, National Institutes of Health, Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Francis Rossignol (F)

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Clesson Turner (C)

NIH Reverse Phenotyping Core, National Institutes of Health, Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Caralynn M Wilczewski (CM)

NIH Reverse Phenotyping Core, National Institutes of Health, Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

George L Maxwell (GL)

Women's Health Integrated Research Center, Inova Health System, Falls Church, VA, USA.

Miguel Holmgren (M)

Molecular Neurophysiology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Jeremy D Bailoo (JD)

Department of Cell Biology and Biochemistry, Texas Tech University Health Sciences Center, Lubbock, TX, USA. Electronic address: jeremy.d.bailoo@ttuhsc.edu.

Sho T Yano (ST)

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Molecular Neurophysiology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Current address: Section of Pediatric Neurology, Department of Pediatrics, University of Chicago, Chicago, IL, USA. Electronic address: syano@uchicago.edu.

Pablo Artigas (P)

Department of Cell Physiology and Molecular Biophysics, Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA. Electronic address: pablo.artigas@ttuhsc.edu.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › ATP1A1-linked diseases require a...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › ATP1A1-linked diseases require a...
questionsmedicales.fr › Eucaryotes › Animaux › ATP1A1-linked diseases require a...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › ATP1A1-linked diseases require a...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › ATP1A1-linked diseases require a...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › P-type ATPases › Sodium-Potassium-Exchanging ATPase › ATP1A1-linked diseases require a...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Isoformes de protéines › ATP1A1-linked diseases require a...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Neuropathie héréditaire motrice et sensitive › Maladie de Charcot-Marie-Tooth › ATP1A1-linked diseases require a...