The giant titin: how to evaluate its role in cardiomyopathies.

Animals Cardiomyopathy, Dilated / genetics Connectin / genetics Heart Defects, Congenital / genetics Humans
Animal models CRISPR/Cas9 Cardiomyopathy Genome-engineering Induced pluripotent stem cell derived cardiomyocytes Titin

Journal

Journal of muscle research and cell motility
ISSN: 1573-2657
Titre abrégé: J Muscle Res Cell Motil
Pays: Netherlands
ID NLM: 8006298

Informations de publication

Date de publication:
06 2019
Historique:
received: 17 04 2019
accepted: 28 05 2019
pubmed: 31 5 2019
medline: 19 6 2020
entrez: 1 6 2019
Statut: ppublish

Résumé

Titin, the largest protein known, has attracted a lot of interest in the cardiovascular field in recent years, since the discovery that truncating variants in titin are commonly found in patients with dilated cardiomyopathy. This review will discuss the contribution of variants in titin to inherited cardiac conditions (cardiomyopathies) and how model systems, such as animals and cellular systems, can help to provide insights into underlying disease mechanisms. It will also give an outlook onto exciting technological developments, such as in the field of CRISPR, which may facilitate future research on titin variants and their contributions to cardiomyopathies.

Identifiants

DOI: 10.1007/s10974-019-09518-w PMID: 31147888 PMC: PMC6726704
pubmed: 31147888
doi: 10.1007/s10974-019-09518-w
pii: 10.1007/s10974-019-09518-w
pmc: PMC6726704
doi:

Substances chimiques

Connectin 0
TTN protein, human 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

159-167

Subventions

Organisme : British Heart Foundation
ID : PG/15/113/31944
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 201543/B/16/Z
Pays : United Kingdom
Organisme : British Heart Foundation
ID : FS/12/40/29712
Pays : United Kingdom

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Auteurs

Amar Azad (A)

Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence, University of Oxford, Oxford, OX3 9DU, UK.
Swansea University Medical School, Swansea, SA2 8PP, UK.

Giulia Poloni (G)

Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence, University of Oxford, Oxford, OX3 9DU, UK.

Naeramit Sontayananon (N)

Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence, University of Oxford, Oxford, OX3 9DU, UK.

He Jiang (H)

Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence, University of Oxford, Oxford, OX3 9DU, UK.

Katja Gehmlich (K)

Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence, University of Oxford, Oxford, OX3 9DU, UK. k.gehmlich@bham.ac.uk.
Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, B15 2TT, UK. k.gehmlich@bham.ac.uk.
ORCID: 0000-0003-4019-1844

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › The giant titin: how to evaluate its role in...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Laminopathies › Cardiomyopathie dilatée › The giant titin: how to evaluate its role in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines contractiles › Protéines du muscle › Connectine › The giant titin: how to evaluate its role in...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations cardiovasculaires › Cardiopathies congénitales › The giant titin: how to evaluate its role in...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The giant titin: how to evaluate its role in...