Frank Rutsch

Summary

Country: Germany

Publications

  1. doi Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
    Frank Rutsch
    Department of General Pediatrics, Münster University Children s Hospital, Albert Schweitzer Strasse 33, D 48149 Munster, Germany
    Nat Genet 41:234-9. 2009
  2. pmc Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy
    Frank Rutsch
    Department of General Pediatrics, University Children s Hospital, Munster, Germany
    Circ Cardiovasc Genet 1:133-40. 2008
  3. doi LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism
    Frank Rutsch
    Department of General Pediatrics, Münster University Children s Hospital, Munster, Germany
    J Inherit Metab Dis 34:121-6. 2011
  4. ncbi Mechanisms of arterial calcification: spotlight on the inhibitors
    Gabriele Weissen-Plenz
    Department of Cardiothoracic Surgery, Munster University Hospital, Munster, Germany
    Adv Clin Chem 46:263-93. 2008
  5. doi A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient
    Susann Gailus
    Department of General Pediatrics, Münster University Children s Hospital, Germany
    J Inherit Metab Dis 33:17-24. 2010
  6. doi Genetics in arterial calcification: lessons learned from rare diseases
    Yvonne Nitschke
    Department of General Pediatrics, Münster University Children s Hospital, D 48149 Munster, Germany
    Trends Cardiovasc Med 22:145-9. 2012
  7. pmc Npp1 promotes atherosclerosis in ApoE knockout mice
    Yvonne Nitschke
    Department of General Pediatrics, Muenster University Children s Hospital, Muenster, Germany
    J Cell Mol Med 15:2273-83. 2011
  8. doi Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease
    Susann Gailus
    Department of General Pediatrics, Münster University Children s Hospital, Munster, Germany
    J Mol Med (Berl) 88:459-66. 2010
  9. doi Expression of NPP1 is regulated during atheromatous plaque calcification
    Yvonne Nitschke
    Department of General Pediatrics, Münster University Children s Hospital, Munster, Germany
    J Cell Mol Med 15:220-31. 2011
  10. doi Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
    David Coelho
    Division of Metabolism, Children s Research Center CRC, University Children s Hospital, Zurich, Switzerland
    Nat Genet 44:1152-5. 2012

Collaborators

Detail Information

Publications17

  1. doi Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
    Frank Rutsch
    Department of General Pediatrics, Münster University Children s Hospital, Albert Schweitzer Strasse 33, D 48149 Munster, Germany
    Nat Genet 41:234-9. 2009
    ..This work identifies LMBRD1 as the gene underlying the cblF defect of cobalamin metabolism and suggests that LMBD1 is a lysosomal membrane exporter for cobalamin...
  2. pmc Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy
    Frank Rutsch
    Department of General Pediatrics, University Children s Hospital, Munster, Germany
    Circ Cardiovasc Genet 1:133-40. 2008
    ..A phosphate-poor diet markedly increases survival of NPP1 null mice, a model of generalized arterial calcification of infancy...
  3. doi LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism
    Frank Rutsch
    Department of General Pediatrics, Münster University Children s Hospital, Munster, Germany
    J Inherit Metab Dis 34:121-6. 2011
    ..These studies give further insight into the intracellular transport of vitamins, challenge the views on lipocalin receptors, and add to our understanding of lysosomal diseases...
  4. ncbi Mechanisms of arterial calcification: spotlight on the inhibitors
    Gabriele Weissen-Plenz
    Department of Cardiothoracic Surgery, Munster University Hospital, Munster, Germany
    Adv Clin Chem 46:263-93. 2008
    ..This chapter focuses on recent developments in understanding the mechanisms of vascular calcification with special emphasis on the particular calcification pathway and the impact of deficient inhibition of calcification...
  5. doi A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient
    Susann Gailus
    Department of General Pediatrics, Münster University Children s Hospital, Germany
    J Inherit Metab Dis 33:17-24. 2010
    ..This case adds to the spectrum of clinical presentations and mutations of this rare disorder of lysosomal transport...
  6. doi Genetics in arterial calcification: lessons learned from rare diseases
    Yvonne Nitschke
    Department of General Pediatrics, Münster University Children s Hospital, D 48149 Munster, Germany
    Trends Cardiovasc Med 22:145-9. 2012
    ....
  7. pmc Npp1 promotes atherosclerosis in ApoE knockout mice
    Yvonne Nitschke
    Department of General Pediatrics, Muenster University Children s Hospital, Muenster, Germany
    J Cell Mol Med 15:2273-83. 2011
    ..We conclude that Npp1 promotes atherosclerosis, potentially mediated by Opn expression in ApoE knockout mice...
  8. doi Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease
    Susann Gailus
    Department of General Pediatrics, Münster University Children s Hospital, Munster, Germany
    J Mol Med (Berl) 88:459-66. 2010
    ....
  9. doi Expression of NPP1 is regulated during atheromatous plaque calcification
    Yvonne Nitschke
    Department of General Pediatrics, Münster University Children s Hospital, Munster, Germany
    J Cell Mol Med 15:220-31. 2011
    ..Our correlation data point to a counter-active mechanism, which in the end turns out to be insufficient to prevent further progression of calcification...
  10. doi Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
    David Coelho
    Division of Metabolism, Children s Research Center CRC, University Children s Hospital, Zurich, Switzerland
    Nat Genet 44:1152-5. 2012
    ..Furthermore, we show that mutations altering the putative ATPase domain of ABCD4 affect its function, suggesting that the ATPase activity of ABCD4 may be involved in intracellular processing of vitamin B12...
  11. pmc Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
    Yvonne Nitschke
    Department of General Pediatrics, Münster University Children s Hospital, Germany
    Am J Hum Genet 90:25-39. 2012
    ..ABCC6 and ENPP1 mutations might lead to alterations of the same physiological pathways in tissues beyond the artery...
  12. pmc Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel
    Frank Rutsch
    Department of General Pediatrics, Münster University Children s Hospital, Albert Schweitzer Campus 1, D 48149 Munster, Germany
    Circ Res 109:578-92. 2011
    ....
  13. pmc Kocuria rhizophila adds to the emerging spectrum of micrococcal species involved in human infections
    Karsten Becker
    University Hospital of Munster, Institute of Medical Microbiology, Domagkstr 10, 48149 Munster, Germany
    J Clin Microbiol 46:3537-9. 2008
    ..K. rhizophila expands the emerging number of "micrococci" considered to be etiologically relevant...
  14. ncbi Deficiencies of physiologic calcification inhibitors and low-grade inflammation in arterial calcification: lessons for cartilage calcification
    Frank Rutsch
    Klinik und Poliklinik für Kinder und Jugendmedizin, Universitatsklinikum Munster, Albert Schweitzer Strasse 33, D 48149 Munster, Germany
    Joint Bone Spine 72:110-8. 2005
    ..This review focuses on recent developments in understanding the pathogenesis of artery calcification pertinent to interpretation of the mechanistic basis for articular cartilage calcification in aging and osteoarthritis...
  15. ncbi Congenital glutamine deficiency with glutamine synthetase mutations
    Johannes Haberle
    Universitatsklinikum Munster, Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin, Munster, Germany
    N Engl J Med 353:1926-33. 2005
    ..Studies that used immortalized lymphocytes expressing R324C glutamine synthetase (R324C-GS) and COS7 cells expressing R341C-GS suggest that these mutations are associated with reduced glutamine synthetase activity...
  16. pmc Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin
    Yvonne Nitschke
    Department of General Pediatrics, Münster University Children s Hospital Münster, Germany
    Front Genet 3:302. 2012
    ..ABCC6 and ENPP1 mutations might lead to alterations of the same physiological pathways...
  17. ncbi Inborn error of amino acid synthesis: human glutamine synthetase deficiency
    Johannes Haberle
    Klinik und Poliklinik für Kinder und Jugendmedizin, Universitatsklinikum Munster, Albert Schweitzer Str 33, 48129, Munster, Germany
    J Inherit Metab Dis 29:352-8. 2006
    ..Deficiency of GS has to be added to the list of inherited metabolic disorders as a rare example of a defect in the biosynthesis of an amino acid...