The

Animals Zebrafish / genetics Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics Disease Models, Animal Mutation Humans Muscle, Skeletal / metabolism Myotonia Congenita / genetics Zebrafish Proteins / genetics
Sarco(endo)plasmic reticulum Ca2+-ATPase isoform 1 (SERCA1) human Brody disease skeletal muscle diseases zebrafish

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
25 Aug 2024
Historique:
received: 28 06 2024
revised: 06 08 2024
accepted: 17 08 2024
medline: 14 9 2024
pubmed: 14 9 2024
entrez: 14 9 2024
Statut: epublish

Résumé

Brody disease (BD) is an "ultra-rare" human genetic disorder of skeletal muscle function due to defects in the

Identifiants

DOI: 10.3390/ijms25179229 PMID: 39273176
pubmed: 39273176
pii: ijms25179229
doi: 10.3390/ijms25179229
pii:
doi:

Substances chimiques

Sarcoplasmic Reticulum Calcium-Transporting ATPases EC 3.6.3.8
Zebrafish Proteins 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Association Française contre les Myopathies
ID : AFM#23765 to R.S

Auteurs

Eylem Emek Akyürek (EE)

Department of Comparative Biomedicine and Food Science, University of Padova, viale dell'Università 16, 35020 Legnaro, Italy.
ORCID: 0000-0002-7054-5116

Francesca Greco (F)

Department of Biotechnology, University of Verona, strada Le Grazie 15, 37134 Verona, Italy.
ORCID: 0009-0001-8298-5979

Chiara Tesoriero (C)

Department of Biotechnology, University of Verona, strada Le Grazie 15, 37134 Verona, Italy.
ORCID: 0000-0001-9915-6424

Francesco Dalla Barba (F)

Department of Biomedical Sciences, University of Padova, via U. Bassi 58/b, 35131 Padova, Italy.
ORCID: 0009-0008-3277-4242

Marcello Carotti (M)

Department of Biomedical Sciences, University of Padova, via U. Bassi 58/b, 35131 Padova, Italy.
ORCID: 0000-0002-7742-339X

Giulia Gorni (G)

Department of Biotechnology, University of Verona, strada Le Grazie 15, 37134 Verona, Italy.

Dorianna Sandonà (D)

Department of Biomedical Sciences, University of Padova, via U. Bassi 58/b, 35131 Padova, Italy.
ORCID: 0000-0002-9908-2442

Andrea Vettori (A)

Department of Biotechnology, University of Verona, strada Le Grazie 15, 37134 Verona, Italy.
ORCID: 0000-0003-4958-0619

Roberta Sacchetto (R)

Department of Comparative Biomedicine and Food Science, University of Padova, viale dell'Università 16, 35020 Legnaro, Italy.
ORCID: 0000-0001-8884-8302

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › The
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Poissons › Cypriniformes › Cyprinidae › Danio zébré › The
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › P-type ATPases › Calcium-Transporting ATPases › Sarcoplasmic Reticulum Calcium-Transporting ATPases › The
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › The
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › The
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The
questionsmedicales.fr › Tissus › Muscles › Muscle strié › Muscles squelettiques › The
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Myotonie congénitale › The
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de poisson › Protéines de poisson-zèbre › The