Gittan Kollberg

Summary

Country: Sweden

Publications

  1. doi request reprint A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion
    Gittan Kollberg
    Department of Clinical Chemistry, Sahlgrenska University Hospital, Bruna Straket 16, SE 413 45 Goteborg, Sweden
    Neuromuscul Disord 19:147-50. 2009
  2. doi request reprint Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy
    Gittan Kollberg
    Department of Clinical Chemistry, Sahlgrenska University Hospital, SE 41345 Goteborg, Sweden
    Brain 132:2170-9. 2009
  3. doi request reprint Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy
    Gittan Kollberg
    Department of Clinical Chemistry, Sahlgrenska University Hospital, SE 413 45 Goteborg, Sweden
    Neuromuscul Disord 19:833-6. 2009
  4. ncbi request reprint POLG1 mutations associated with progressive encephalopathy in childhood
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    J Neuropathol Exp Neurol 65:758-68. 2006
  5. ncbi request reprint Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden
    N Engl J Med 357:1507-14. 2007
  6. ncbi request reprint Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    J Neuropathol Exp Neurol 64:123-8. 2005
  7. ncbi request reprint Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Eur J Hum Genet 13:463-9. 2005
  8. doi request reprint Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy
    Gittan Kollberg
    Department of Clinical Chemistry, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE 41345 Gothenburg, Sweden
    Neuromuscul Disord 21:115-20. 2011

Detail Information

Publications8

  1. doi request reprint A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion
    Gittan Kollberg
    Department of Clinical Chemistry, Sahlgrenska University Hospital, Bruna Straket 16, SE 413 45 Goteborg, Sweden
    Neuromuscul Disord 19:147-50. 2009
    ..This is the third report on mutations in RRM2B associated with severe mtDNA depletion, which further highlights the importance of de novo synthesis of deoxyribonucleotides (dNTPs) for mtDNA maintenance...
  2. doi request reprint Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy
    Gittan Kollberg
    Department of Clinical Chemistry, Sahlgrenska University Hospital, SE 41345 Goteborg, Sweden
    Brain 132:2170-9. 2009
    ..There was only a slight reduction of mitochondrial IscU in the compound heterozygotes, despite their severe phenotype, indicating that the IscU expressed in these patients is non-functional...
  3. doi request reprint Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy
    Gittan Kollberg
    Department of Clinical Chemistry, Sahlgrenska University Hospital, SE 413 45 Goteborg, Sweden
    Neuromuscul Disord 19:833-6. 2009
    ..The restoration was stable and after 21 days the correctly spliced mRNA still was the dominating RNA species...
  4. ncbi request reprint POLG1 mutations associated with progressive encephalopathy in childhood
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    J Neuropathol Exp Neurol 65:758-68. 2006
    ..The results support the concept that deletions as well as depletion of mtDNA are involved in the pathogenesis of Alpers-Huttenlocher syndrome and add 3 new POLG1 mutations associated with an early-onset neurodegenerative disease...
  5. ncbi request reprint Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden
    N Engl J Med 357:1507-14. 2007
    ..In muscle-biopsy specimens obtained from the two younger siblings, there was lack of glycogen, predominance of oxidative fibers, and mitochondrial proliferation. Glucose tolerance was normal...
  6. ncbi request reprint Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    J Neuropathol Exp Neurol 64:123-8. 2005
    ....
  7. ncbi request reprint Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Eur J Hum Genet 13:463-9. 2005
    ..We conclude that mtDNA point mutations do not appear to be directly or indirectly involved in the pathogenesis of mitochondrial disease in patients with different POLG1 mutations...
  8. doi request reprint Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathy
    Gittan Kollberg
    Department of Clinical Chemistry, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE 41345 Gothenburg, Sweden
    Neuromuscul Disord 21:115-20. 2011
    ..The results have implications for diagnosis of the disease based on muscle biopsy findings and support the concept that an increase of normally spliced ISCU by RNA modulating therapy may be a therapeutic possibility for these patients...