1983
DOI: 10.1073/pnas.80.19.6066
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Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases.

Abstract: Arylsulfatase A polypeptides were examined in cultured fibroblasts from a patient with juvenile metachromatic leukodystrophy and three patients with the adult form of the disease, with the aid of metabolic labeling and immunoprecipitation. The mutant cells were severely deficient in the arylsulfatase polypeptides. The apparent rate of synthesis, however, as estimated from the secretion of polypeptides or activity by cells incubated in the presence of 10 mM NH4Cl was 20-50% of control. In the absence of NH4CI, … Show more

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Cited by 81 publications
(39 citation statements)
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“…Throughout this article the retroviral vectors are designated by a p (e.g., pXT1). The p will be omitted to designate the corresponding viruses (e.g., XT1 (21) and STS from the membrane fraction (16) were performed as previously described.…”
Section: Methodsmentioning
confidence: 99%
“…Throughout this article the retroviral vectors are designated by a p (e.g., pXT1). The p will be omitted to designate the corresponding viruses (e.g., XT1 (21) and STS from the membrane fraction (16) were performed as previously described.…”
Section: Methodsmentioning
confidence: 99%
“…The lysosomal protease inhibitors had no apparent effect on the stability of the ␣-subunit containing the benign mutation R247W (data not shown). Leupeptin (105 M) has successfully been used to increase the activity and protein levels of arylsulfatase A in the fibroblasts from adults with metachromatic leukodystrophy (46). DISCUSSION The benign mutations, C739T(R247W) and C745T(R249W), were originally identified in subjects with Hex A pseudodeficiency and in enzyme-defined Tay-Sachs disease carriers (6,16,17,42).…”
Section: Effect Of Benign Mutations On the Stability Of The ␣-Subunitmentioning
confidence: 99%
“…In fibroblasts from MLD patients carrying a P426L-ASA allele, the mutant enzyme can be stabilized by the addition of inhibitors of cysteine proteinases. Under these conditions ASA activity increases and the catabolism of cerebroside 3-sulfate is normalized (7,8).…”
mentioning
confidence: 99%