Heiko Runz

Summary

Affiliation: University of Heidelberg
Country: Germany

Publications

  1. ncbi request reprint Inhibition of intracellular cholesterol transport alters presenilin localization and amyloid precursor protein processing in neuronal cells
    Heiko Runz
    Center for Molecular Biology, University of Heidelberg, 69120 Heidelberg, Germany
    J Neurosci 22:1679-89. 2002
  2. ncbi request reprint NPC-db, a Niemann-Pick type C disease gene variation database
    Heiko Runz
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    Hum Mutat 29:345-50. 2008
  3. doi request reprint A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults
    Daniel Gotthardt
    Department of Internal Medicine IV, University Hospital of Heidelberg, Heidelberg, Germany
    Hepatology 48:1157-66. 2008
  4. pmc Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
    Miriam Stampfer
    Institute of Human Genetics, University of Heidelberg, Heidelberg 69120, Germany
    Orphanet J Rare Dis 8:35. 2013
  5. ncbi request reprint Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease
    Karl Heinz Weiss
    Department of Gastroenterology, University Hospital Heidelberg, INF 410, 69120 Heidelberg, Germany
    J Inherit Metab Dis 33:S233-40. 2010
  6. doi request reprint Identification of cholesterol-regulating genes by targeted RNAi screening
    Fabian Bartz
    Institute of Human Genetics, University of Heidelberg, Seminarstrasse 2, Heidelberg, Germany
    Cell Metab 10:63-75. 2009
  7. pmc Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage
    Carolina Tängemo
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    J Lipid Res 52:813-25. 2011
  8. pmc Sterols regulate ER-export dynamics of secretory cargo protein ts-O45-G
    Heiko Runz
    Cell Biology and Cell Biophysics Programme, European Molecular Biology Laboratory, EMBL, Heidelberg, Germany
    EMBO J 25:2953-65. 2006

Detail Information

Publications8

  1. ncbi request reprint Inhibition of intracellular cholesterol transport alters presenilin localization and amyloid precursor protein processing in neuronal cells
    Heiko Runz
    Center for Molecular Biology, University of Heidelberg, 69120 Heidelberg, Germany
    J Neurosci 22:1679-89. 2002
    ..Our results suggest that the subcellular distribution of cholesterol may be an important factor in how cholesterol alters Abeta production and the risk of Alzheimer's disease...
  2. ncbi request reprint NPC-db, a Niemann-Pick type C disease gene variation database
    Heiko Runz
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    Hum Mutat 29:345-50. 2008
    ..The user is encouraged to search contents and submit novel information, thereby contributing to generate a valuable open-access tool that will allow a better understanding of the molecular and clinical details of NPC disease...
  3. doi request reprint A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults
    Daniel Gotthardt
    Department of Internal Medicine IV, University Hospital of Heidelberg, Heidelberg, Germany
    Hepatology 48:1157-66. 2008
    ..2362C>T (p.Arg788Trp) which cosegregated with severity of disease. Bile from a mutation homozygote showed a reduced phosphatidylcholine/bile acid ratio, consistent with reduced ABCB4 phosphatidylcholine transport activity...
  4. pmc Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
    Miriam Stampfer
    Institute of Human Genetics, University of Heidelberg, Heidelberg 69120, Germany
    Orphanet J Rare Dis 8:35. 2013
    ..We apply NPC-cdb to study NP-C temporal expression in a large German-Swiss patient cohort...
  5. ncbi request reprint Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease
    Karl Heinz Weiss
    Department of Gastroenterology, University Hospital Heidelberg, INF 410, 69120 Heidelberg, Germany
    J Inherit Metab Dis 33:S233-40. 2010
    ..In summary, these data emphasize the need to further elucidate a role of BIRC4/XIAP variants as putative pathogenetic factors in copper overload disorders...
  6. doi request reprint Identification of cholesterol-regulating genes by targeted RNAi screening
    Fabian Bartz
    Institute of Human Genetics, University of Heidelberg, Seminarstrasse 2, Heidelberg, Germany
    Cell Metab 10:63-75. 2009
    ..Taken together, TMEM97 and other factors described here are promising to yield further insights into how cells control cholesterol levels...
  7. pmc Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage
    Carolina Tängemo
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    J Lipid Res 52:813-25. 2011
    ..Taken together, our approach opens perspectives not only to support diagnosis, but also to better characterize mechanisms impacting cholesterol accumulation in NPC patient-derived cells...
  8. pmc Sterols regulate ER-export dynamics of secretory cargo protein ts-O45-G
    Heiko Runz
    Cell Biology and Cell Biophysics Programme, European Molecular Biology Laboratory, EMBL, Heidelberg, Germany
    EMBO J 25:2953-65. 2006
    ..Consistent with this, membrane turnover of the COPII component Sec23p is delayed in sterol-depleted cells. Altogether, our results demonstrate the importance of sterol levels in COPII mediated ER-export...