Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in


Journal

Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052

Informations de publication

Date de publication:
17 05 2023
Historique:
received: 16 03 2023
revised: 10 05 2023
accepted: 15 05 2023
medline: 7 7 2023
pubmed: 6 7 2023
entrez: 6 7 2023
Statut: epublish

Résumé

Phospholamban is involved in the regulation of the activity and storage of calcium in cardiac muscle. Several mutations have been identified in the

Identifiants

pubmed: 37408239
pii: cells12101405
doi: 10.3390/cells12101405
pmc: PMC10216566
pii:
doi:

Substances chimiques

Calcium-Binding Proteins 0
phospholamban 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Références

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Auteurs

Simona Zanotti (S)

Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.

Michela Ripolone (M)

Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.

Laura Napoli (L)

Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.

Daniele Velardo (D)

Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.

Sabrina Salani (S)

Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Patrizia Ciscato (P)

Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.

Silvia Priori (S)

Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
Department of Molecular Cardiology, IRCCS ICS Maugeri, 27100 Pavia, Italy.
Laboratory of Molecular Cardiology, Centro Nacional de Investigaciones Cardiovasculares Carlos III, 28029 Madrid, Spain.

Deni Kukavica (D)

Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
Department of Molecular Cardiology, IRCCS ICS Maugeri, 27100 Pavia, Italy.
Laboratory of Molecular Cardiology, Centro Nacional de Investigaciones Cardiovasculares Carlos III, 28029 Madrid, Spain.

Andrea Mazzanti (A)

Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
Department of Molecular Cardiology, IRCCS ICS Maugeri, 27100 Pavia, Italy.
Laboratory of Molecular Cardiology, Centro Nacional de Investigaciones Cardiovasculares Carlos III, 28029 Madrid, Spain.

Luca Diamanti (L)

Neuroncology Unit, IRCCS Mondino Foundation, 27100 Pavia, Italy.

Elisa Vegezzi (E)

Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
IRCCS Mondino Foundation, 27100 Pavia, Italy.

Maurizio Moggio (M)

Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.

Stefania Corti (S)

Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.

Giacomo Comi (G)

Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.
Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.

Monica Sciacco (M)

Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy.

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Classifications MeSH