List of works - Jaakko Sarparanta

Atypical phenotypes in titinopathies explained by second titin mutations

scientific article published on 24 February 2014

Autophagy and Mitochondria in Obesity and Type 2 Diabetes.

scientific article published on 17 February 2016

Biology of myospryn: what's known?

scientific article published on January 2008

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

scientific article published on 15 April 2015

Constitutive upregulations of titin-based signalling proteins in KY deficient muscles.

scientific article published on 30 June 2006

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene

scientific article published on 27 October 2021

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

scientific article

Increasing Role of Titin Mutations in Neuromuscular Disorders.

scientific article published on August 2016

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies

scientific article published on 15 July 2010

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

scientific article

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype

scientific article published on 22 June 2010

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.

scientific article published on 20 September 2010

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

scientific article published on 19 February 2018

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

scientific article

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

scientific article published on 22 October 2008

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

scientific article

List of works by Jaakko Sarparanta

Atypical phenotypes in titinopathies explained by second titin mutations

Autophagy and Mitochondria in Obesity and Type 2 Diabetes.

Biology of myospryn: what's known?

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.

Constitutive upregulations of titin-based signalling proteins in KY deficient muscles.

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.

Increasing Role of Titin Mutations in Neuromuscular Disorders.

Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1