Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.

Humans Filamins / genetics Muscle Fibers, Skeletal / metabolism Myopathies, Structural, Congenital / genetics Proteasome Endopeptidase Complex / metabolism Protein Aggregates Ubiquitin / metabolism
cardiomyopathy chaperone-assisted selected autophagy filamin c myofibrillar myopathy protein folding protein quality system

Journal

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

Informations de publication

Date de publication:
05 05 2023
Historique:
received: 28 03 2023
revised: 28 04 2023
accepted: 03 05 2023
medline: 15 5 2023
pubmed: 13 5 2023
entrez: 13 5 2023
Statut: epublish

Résumé

Myofibrillar myopathies (MFM) are a group of chronic muscle diseases pathophysiologically characterized by accumulation of protein aggregates and structural failure of muscle fibers. A subtype of MFM is caused by heterozygous mutations in the filamin C (

Identifiants

DOI: 10.3390/cells12091321 PMID: 37174721 PMC: PMC10177260
pubmed: 37174721
pii: cells12091321
doi: 10.3390/cells12091321
pmc: PMC10177260
pii:
doi:

Substances chimiques

Filamins 0
Proteasome Endopeptidase Complex EC 3.4.25.1
Protein Aggregates 0
Ubiquitin 0
FLNC protein, human 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

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Auteurs

Dominik Sellung (D)

Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.

Lorena Heil (L)

Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.

Nassam Daya (N)

Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.

Frank Jacobsen (F)

Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.

Janine Mertens-Rill (J)

Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.

Heidi Zhuge (H)

Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.

Kristina Döring (K)

Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.

Misagh Piran (M)

Erich and Hanna Klessmann Institute, Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University Bochum, 32545 Bad Oeynhausen, Germany.
ORCID: 0000-0003-0539-0610

Hendrik Milting (H)

Erich and Hanna Klessmann Institute, Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University Bochum, 32545 Bad Oeynhausen, Germany.
ORCID: 0000-0001-9722-0007

Andreas Unger (A)

Institute of Physiology II, University of Münster, 48149 Münster, Germany.

Wolfgang A Linke (WA)

Institute of Physiology II, University of Münster, 48149 Münster, Germany.

Rudi Kley (R)

Department of Neurology and Clinical Neurophysiology, St. Marien-Hospital Borken, 46325 Borken, Germany.

Corinna Preusse (C)

Department of Neuropathology, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.
ORCID: 0000-0002-5494-8150

Andreas Roos (A)

Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.

Dieter O Fürst (DO)

Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.

Peter F M van der Ven (PFMV)

Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
ORCID: 0000-0002-9750-8913

Matthias Vorgerd (M)

Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.
ORCID: 0000-0002-1782-4642

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Novel Filamin C Myofibrillar Myopathy Variants...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines des microfilaments › Filamines › Novel Filamin C Myofibrillar Myopathy Variants...
questionsmedicales.fr › Cellules › Cellules musculaires › Fibres musculaires squelettiques › Novel Filamin C Myofibrillar Myopathy Variants...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies musculaires › Myopathies congénitales structurales › Novel Filamin C Myofibrillar Myopathy Variants...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Complexes multienzymatiques › Proteasome endopeptidase complex › Novel Filamin C Myofibrillar Myopathy Variants...
questionsmedicales.fr › Structures macromoléculaires › Agrégats de protéines › Novel Filamin C Myofibrillar Myopathy Variants...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Ubiquitines › Ubiquitine › Novel Filamin C Myofibrillar Myopathy Variants...