The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy

Abstract Recently, linkage analysis of two large unrelated multigenerational families identified a novel dilated cardiomyopathy (DCM)-linked mutation in the gene coding for alpha-tropomyosin ( TPM1 ) resulting in the substitution of an aspartic acid for an asparagine (at residue 230). To determine h...

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Veröffentlicht in:	Journal of molecular and cellular cardiology 2017-07, Vol.108, p.127-137
Hauptverfasser:	Lynn, M.L, Tal Grinspan, L, Holeman, T.A, Jimenez, J, Strom, J, Tardiff, J.C
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Animals Calcium - chemistry Calcium - metabolism Cardiomyopathy Cardiomyopathy, Dilated - diagnostic imaging Cardiomyopathy, Dilated - genetics Cardiomyopathy, Dilated - metabolism Cardiomyopathy, Dilated - pathology Cardiovascular Codon Dilated Disease Models, Animal Echocardiography Gene Expression Heart Function Tests Humans Mice Mice, Transgenic Models, Molecular Mutation Myofibrils Myosins - genetics Myosins - metabolism Protein Conformation Protein Stability Structure-Activity Relationship Thermodynamics Transgenic Tropomyosin Tropomyosin - chemistry Tropomyosin - genetics Tropomyosin - metabolism Troponin - genetics Troponin - metabolism
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