PMID: 5257010Mar 1, 1969Paper

Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures

Proceedings of the National Academy of Sciences of the United States of America
M T PorterH Kihara

Abstract

Fibroblasts cultured from the skin of a patient with metachromatic leukodystrophy have been found to manifest the biochemical defect of this inborn error of metabolism, a deficiency of arylsulfatase A. Diseased cells had less than five per cent of normal arylsulfatase-A activity, while activities of other lysosomal enzymes-including arylsulfatase B, beta-galactosidase, beta-glucuronidase, and beta-N-acetylglucosaminidase-were comparable to those in control cells. The presence of dissociable inhibitors in extracts of the diseased cells was excluded by combination experiments. The deficiency of the enzyme in leukocytes was also confirmed and is comparable to that found in cultured fibroblasts. The finding that readily cultured fibroblasts from easily obtained skin biopsy specimens exhibit the enzymatic defect should prove valuable in the biochemical study of this disease.

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Citations

Dec 1, 1979·Biochemical Genetics·G A BrunsP S Gerald
Jan 1, 1982·Journal of Inherited Metabolic Disease·H KiharaW Leider
Apr 8, 1976·Biochimica Et Biophysica Acta·A L FluhartyH Kihara
Jun 15, 1970·Brain Research·A S Balasubramanian, B K Bachhawat
Feb 15, 1977·Life Sciences·A A FarooquiP Mandel
Mar 12, 1970·The New England Journal of Medicine·H L Nadler, A B Gerbie
Jun 11, 1970·The New England Journal of Medicine·M M Kaback, R R Howell
Dec 17, 1970·The New England Journal of Medicine·A MilunskyL Atkins
Oct 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·K von FiguraA Hasilik
Mar 7, 2003·Human Molecular Genetics·Alexander-Christian GampPaul Saftig
Aug 1, 1991·Acta Paediatrica Japonica; Overseas Edition·Y ShigematsuK Konishi
Jul 16, 2003·Molecular and Cellular Biology·Vadim AtlashkinGabriele Fischer von Mollard
Mar 23, 2013·PloS One·Myungsik YooMelitta Schachner
Oct 11, 1976·Biochimica Et Biophysica Acta·R L StevensH Kihara
Jan 1, 1972·Experimental Cell Research·C A RyanH L Nadler
Apr 1, 1970·Metabolism: Clinical and Experimental·D Y Hsia
Nov 1, 1974·Biochemical Medicine·C J Dillard, A L Tappel
Mar 1, 1973·Archives of Biochemistry and Biophysics·C W HallE F Neufeld
Nov 1, 1973·The Journal of Pediatrics·N G BeratisK Hirschhorn
Jul 24, 1974·Biochemical and Biophysical Research Communications·A L FluhartyH Kihara
Aug 6, 1971·Biochemical and Biophysical Research Communications·M T PorterH Kihara
Feb 1, 1973·Biochemical Medicine·A L FluhartyJ W Towner
Mar 16, 2002·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·Tatsuyuki OhtoMasayuki Masu
Apr 1, 1976·European Journal of Biochemistry·E Katona
Mar 1, 1993·American Journal of Medical Genetics·N ShenP L Chang
Aug 1, 1992·American Journal of Medical Genetics·Z G LiP L Chang
Sep 8, 2005·Proteomics·Katrin KollmannTorben Lübke

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