Using nuclear envelope mutations to explore age-related skeletal muscle weakness

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Standard

Using nuclear envelope mutations to explore age-related skeletal muscle weakness. / Battey, Edmund; Stroud, Matthew J.; Ochala, Julien.

I: Clinical Science, Bind 134, Nr. 16, 28.08.2020, s. 2177-2187.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Battey, E, Stroud, MJ & Ochala, J 2020, 'Using nuclear envelope mutations to explore age-related skeletal muscle weakness', Clinical Science, bind 134, nr. 16, s. 2177-2187. https://doi.org/10.1042/CS20190066

APA

Battey, E., Stroud, M. J., & Ochala, J. (2020). Using nuclear envelope mutations to explore age-related skeletal muscle weakness. Clinical Science, 134(16), 2177-2187. https://doi.org/10.1042/CS20190066

Vancouver

Battey E, Stroud MJ, Ochala J. Using nuclear envelope mutations to explore age-related skeletal muscle weakness. Clinical Science. 2020 aug. 28;134(16):2177-2187. https://doi.org/10.1042/CS20190066

Author

Battey, Edmund ; Stroud, Matthew J. ; Ochala, Julien. / Using nuclear envelope mutations to explore age-related skeletal muscle weakness. I: Clinical Science. 2020 ; Bind 134, Nr. 16. s. 2177-2187.

Bibtex

@article{a6920ecaf7154c8f850c0a4753a1bf3a,
title = "Using nuclear envelope mutations to explore age-related skeletal muscle weakness",
abstract = "Skeletal muscle weakness is an important determinant of age-related declines in independence and quality of life but its causes remain unclear. Accelerated ageing syndromes such as Hutchinson-Gilford Progerin Syndrome, caused by mutations in genes encoding nuclear envelope proteins, have been extensively studied to aid our understanding of the normal biological ageing process. Like several other pathologies associated with genetic defects to nuclear envelope proteins including Emery-Dreifuss muscular dystrophy, Limb-Girdle muscular dystrophy and congenital muscular dystrophy, these disorders can lead to severe muscle dysfunction. Here, we first describe the structure and function of nuclear envelope proteins, and then review the mechanisms by which mutations in genes encoding nuclear envelope proteins induce premature ageing diseases and muscle pathologies. In doing so, we highlight the potential importance of such genes in processes leading to skeletal muscle weakness in old age.",
keywords = "aging, nuclear envelopes, skeletal muscle",
author = "Edmund Battey and Stroud, {Matthew J.} and Julien Ochala",
year = "2020",
month = aug,
day = "28",
doi = "10.1042/CS20190066",
language = "English",
volume = "134",
pages = "2177--2187",
journal = "Clinical Science",
issn = "0143-5221",
publisher = "Portland Press Ltd.",
number = "16",

}

RIS

TY - JOUR

T1 - Using nuclear envelope mutations to explore age-related skeletal muscle weakness

AU - Battey, Edmund

AU - Stroud, Matthew J.

AU - Ochala, Julien

PY - 2020/8/28

Y1 - 2020/8/28

N2 - Skeletal muscle weakness is an important determinant of age-related declines in independence and quality of life but its causes remain unclear. Accelerated ageing syndromes such as Hutchinson-Gilford Progerin Syndrome, caused by mutations in genes encoding nuclear envelope proteins, have been extensively studied to aid our understanding of the normal biological ageing process. Like several other pathologies associated with genetic defects to nuclear envelope proteins including Emery-Dreifuss muscular dystrophy, Limb-Girdle muscular dystrophy and congenital muscular dystrophy, these disorders can lead to severe muscle dysfunction. Here, we first describe the structure and function of nuclear envelope proteins, and then review the mechanisms by which mutations in genes encoding nuclear envelope proteins induce premature ageing diseases and muscle pathologies. In doing so, we highlight the potential importance of such genes in processes leading to skeletal muscle weakness in old age.

AB - Skeletal muscle weakness is an important determinant of age-related declines in independence and quality of life but its causes remain unclear. Accelerated ageing syndromes such as Hutchinson-Gilford Progerin Syndrome, caused by mutations in genes encoding nuclear envelope proteins, have been extensively studied to aid our understanding of the normal biological ageing process. Like several other pathologies associated with genetic defects to nuclear envelope proteins including Emery-Dreifuss muscular dystrophy, Limb-Girdle muscular dystrophy and congenital muscular dystrophy, these disorders can lead to severe muscle dysfunction. Here, we first describe the structure and function of nuclear envelope proteins, and then review the mechanisms by which mutations in genes encoding nuclear envelope proteins induce premature ageing diseases and muscle pathologies. In doing so, we highlight the potential importance of such genes in processes leading to skeletal muscle weakness in old age.

KW - aging

KW - nuclear envelopes

KW - skeletal muscle

UR - http://www.scopus.com/inward/record.url?scp=85089924616&partnerID=8YFLogxK

U2 - 10.1042/CS20190066

DO - 10.1042/CS20190066

M3 - Journal article

C2 - 32844998

AN - SCOPUS:85089924616

VL - 134

SP - 2177

EP - 2187

JO - Clinical Science

JF - Clinical Science

SN - 0143-5221

IS - 16

ER -

ID: 248464153