about
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyTibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titinWelander distal myopathy is caused by a mutation in the RNA-binding protein TIA1Biology of myospryn: what's known?Increasing Role of Titin Mutations in Neuromuscular Disorders.Constitutive upregulations of titin-based signalling proteins in KY deficient muscles.Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophiesAutophagy and Mitochondria in Obesity and Type 2 Diabetes.Atypical phenotypes in titinopathies explained by second titin mutations.Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Jaakko Sarparanta
@ast
Jaakko Sarparanta
@en
Jaakko Sarparanta
@es
Jaakko Sarparanta
@nl
Jaakko Sarparanta
@sl
type
label
Jaakko Sarparanta
@ast
Jaakko Sarparanta
@en
Jaakko Sarparanta
@es
Jaakko Sarparanta
@nl
Jaakko Sarparanta
@sl
prefLabel
Jaakko Sarparanta
@ast
Jaakko Sarparanta
@en
Jaakko Sarparanta
@es
Jaakko Sarparanta
@nl
Jaakko Sarparanta
@sl
P106
P21
P31
P496
0000-0002-5497-5255