How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the ‘gene for speed‿
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- 作者：Fiona X.Z. Leea ; b ; Peter J. Houwelingc ; Kathryn N. Northa ; c ; Kate G.R. Quinlanb ; d ; kate.quinlan@unsw.edu.au" class="auth_mail" title="E-mail the corresponding author
- 关键词：Athletic performance ; Common human polymorphism ; Molecular mechanism ; Protein interactions ; α-Actinin-3 deficiency ; Muscle function
- 刊名：Biochimica et Biophysica Acta (BBA)-Molecular Cell Research
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：1863
- 期：4
- 页码：686-693
- 全文大小：1684 K
文摘
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1.5 billion people worldwide are deficient in skeletal muscle α-actinin-3 protein.
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α-Actinin-3 deficiency influences human muscle performance.
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Structural, metabolic, signalling and calcium handling pathways are altered.
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Molecular mechanisms underlying the consequences of α-actinin-3 deficiency are known.