Peter Hackman

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. pmc Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
    Peter Hackman
    Department of Medical Genetics and The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    Am J Hum Genet 71:492-500. 2002
  2. ncbi request reprint Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients
    P Hackman
    Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Biomedicum, Helsinki, Finland
    Muscle Nerve 31:199-204. 2005
  3. doi request reprint Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus
    Peter Hackman
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Neuromuscul Disord 21:338-44. 2011
  4. doi request reprint Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)
    Peter Hackman
    Folkhalsan Institute of Genetics, Department of Medical Genetics, University of Helsinki, Haartmaninkatu 8, PB 63, 00014 Helsinki, Finland
    Neuromuscul Disord 18:922-8. 2008
  5. ncbi request reprint Atypical phenotypes in titinopathies explained by second titin mutations
    Anni Evilä
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Ann Neurol 75:230-40. 2014
  6. pmc Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies
    Jaakko Sarparanta
    Department of Medical Genetics, Folkhalsan Institute of Genetics, University of Helsinki, 00014 Helsinki, Finland
    J Biol Chem 285:30304-15. 2010
  7. ncbi request reprint Distal myopathy caused by homozygous missense mutations in the nebulin gene
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Brain 130:1465-76. 2007
  8. ncbi request reprint Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1
    Peter Hackman
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Ann Neurol 73:500-9. 2013
  9. pmc Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
    Jaakko Sarparanta
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Nat Genet 44:450-5, S1-2. 2012
  10. pmc Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy
    Mark Screen
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    PLoS ONE 9:e90819. 2014

Collaborators

Detail Information

Publications13

  1. pmc Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
    Peter Hackman
    Department of Medical Genetics and The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    Am J Hum Genet 71:492-500. 2002
    ....
  2. ncbi request reprint Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients
    P Hackman
    Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Biomedicum, Helsinki, Finland
    Muscle Nerve 31:199-204. 2005
    ....
  3. doi request reprint Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus
    Peter Hackman
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Neuromuscul Disord 21:338-44. 2011
    ..The linked region was narrowed down from <6.3 to <3.4Mb. Sequencing of the genes in the area is ongoing, aiming to identify the genetic defect...
  4. doi request reprint Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)
    Peter Hackman
    Folkhalsan Institute of Genetics, Department of Medical Genetics, University of Helsinki, Haartmaninkatu 8, PB 63, 00014 Helsinki, Finland
    Neuromuscul Disord 18:922-8. 2008
    ..The third was a nonsense mutation g.293379C>T (p.Q33396X) in Mex6. Patients with the upstream Mex5 mutation showed a more severe phenotype with earlier onset implying a genotype-phenotype correlation...
  5. ncbi request reprint Atypical phenotypes in titinopathies explained by second titin mutations
    Anni Evilä
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Ann Neurol 75:230-40. 2014
    ..This study aimed to clarify the molecular cause of the variant phenotypes in 8 patients of 7 European families...
  6. pmc Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies
    Jaakko Sarparanta
    Department of Medical Genetics, Folkhalsan Institute of Genetics, University of Helsinki, 00014 Helsinki, Finland
    J Biol Chem 285:30304-15. 2010
    ..The novel interactions indicate a role for myospryn in the sarcomeric M-band and may be relevant for the molecular pathomechanisms of TMD/LGMD2J and LGMD2A...
  7. ncbi request reprint Distal myopathy caused by homozygous missense mutations in the nebulin gene
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Brain 130:1465-76. 2007
    ..We conclude that homozygous missense mutations in NEB cause a novel distal myopathy, predominantly involving lower leg extensor muscles, finger extensors and neck flexors...
  8. ncbi request reprint Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1
    Peter Hackman
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Ann Neurol 73:500-9. 2013
    ..A study was undertaken to identify the molecular cause of Welander distal myopathy (WDM), a classic autosomal dominant distal myopathy...
  9. pmc Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
    Jaakko Sarparanta
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Nat Genet 44:450-5, S1-2. 2012
    ....
  10. pmc Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy
    Mark Screen
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    PLoS ONE 9:e90819. 2014
    ..Thus, pathways controlling turnover and degradation, including autophagy, are distorted and lead to degeneration and loss of muscle fibres. ..
  11. doi request reprint Expression of multiple nebulin isoforms in human skeletal muscle and brain
    Jenni Laitila
    Department of Biosciences, Division of Genetics, PO Box 56, University of Helsinki, Helsinki FI 00014, Finland
    Muscle Nerve 46:730-7. 2012
    ..Multiple isoforms of nebulin are produced from the 183-exon-containing nebulin gene (NEB). Mutations in NEB cause nemaline myopathy, distal myopathy, and core-rod myopathy...
  12. ncbi request reprint Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3)
    Henna Haravuori
    Department of Molecular Medicine, National Public Health Institute, P O Box 104, Fin 00251 Helsinki, Finland
    Neuromuscul Disord 14:183-7. 2004
    ..No mutations were identified in the coding sequence...
  13. pmc Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
    Anna H Hakonen
    Research Program of Neurosciences, Biomedicum Helsinki, Helsinki, Finland
    Am J Hum Genet 77:430-41. 2005
    ....