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Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle

Plectin, a versatile 500-kDa cytolinker protein, is essential for muscle fiber integrity and function. The most common disease caused by mutations in the human plectin gene, epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), is characterized by severe skin blistering and progressive mus...

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Bibliografske podrobnosti
izdano v:Hum Mol Genet
Main Authors: Winter, Lilli, Kuznetsov, Andrey V., Grimm, Michael, Zeöld, Anikó, Fischer, Irmgard, Wiche, Gerhard
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2015
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4512624/
https://ncbi.nlm.nih.gov/pubmed/26019234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv184
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