FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation

FHL1 mutations cause several clinically heterogeneous myopathies, including reducing body myopathy (RBM), scapuloperoneal myopathy (SPM) and X-linked myopathy with postural muscle atrophy (XMPMA). The molecular mechanisms underlying the pathogenesis of FHL1 myopathies are unknown. Protein aggregates...

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Veröffentlicht in:	Journal of cell science 2014-05, Vol.127 (Pt 10), p.2269-2281
Hauptverfasser:	Wilding, Brendan R, McGrath, Meagan J, Bonne, Gisèle, Mitchell, Christina A
Format:	Artikel
Sprache:	eng
Schlagworte:	Cell Differentiation - physiology Humans Intracellular Signaling Peptides and Proteins - genetics Intracellular Signaling Peptides and Proteins - metabolism LIM Domain Proteins - genetics LIM Domain Proteins - metabolism Muscle Fibers, Skeletal - metabolism Muscle Proteins - genetics Muscle Proteins - metabolism Muscular Diseases - genetics Muscular Diseases - metabolism Muscular Diseases - pathology Mutation Myoblasts - metabolism Myoblasts - pathology Protein Aggregates
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