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Journal of Inherited Metabolic Disease

, Volume 19, Issue 2, pp 130–132 | Cite as

Decreased activity of the mitochondrial ATP-synthase in fibroblasts from children with late-infantile and juvenile neuronal ceroid lipofuscinosis

  • A. M. Das
  • A. Kohlschütter
Short Communication

Keywords

Public Health Internal Medicine Metabolic Disease Neuronal Ceroid Lipofuscinosis Juvenile Neuronal Ceroid Lipofuscinosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Das AM, Byrd DJ, Brodehl J (1994) Regulation of the mitochondrial ATPsynthase in human fibroblasts.Clin Chim Acta 231: 61–68.Google Scholar
  2. Ezaki J, Wolfe LS, Ishido K, Kominami E (1995) Abnormal degradative pathway of mitochondrial ATP synthase subunitc in late infantile neuronal ceroid lipofuscinosis (Batten disease).Am J Med Genet 57: 254–259.Google Scholar
  3. Hall NA, Lake BD, Dewij NN, Patrick AD (1991) Lysosomal storage of subunitc of mitochondrial ATPsynthase in Batten's disease.Biochem J 275: 269–272.Google Scholar
  4. Kohlschütter A, Gardiner RM, Goebel HH (1993) Human forms of neuronal ceroid lipofuscinosis (Batten disease): consensus diagnostic criteria, Hamburg 1992.J Inher Metab Dis 16: 241–244.Google Scholar
  5. Lippe G, Sorgato MC, Harris DA (1988) The binding of the inhibitor protein is governed independently by ATP and membrane potential in ox-heart submitochondrial particles.Biochim Biophys Acta 933: 12–21.Google Scholar
  6. Stumpf DA, Parks JK (1981) Human mitochondrial electron transport chain: assay of succinate: cytochromec reductase in leukocytes, platelets and cultured fibroblasts.Biochem Med 25: 234–238.Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1996

Authors and Affiliations

  • A. M. Das
    • 2
  • A. Kohlschütter
    • 1
  1. 1.Department of PediatricsUniversity of HamburgHamburgGermany
  2. 2.Department of Pediatric Nephrology and Metabolic DisordersKinderklinik der Medizinischen Hochschule HannoverHannoverGermany

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