Am J Hum Genet. 1978 May;30(3):249-55.

Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.

Fluharty AL, Stevens RL, Davis LL, Shapiro LJ, Kihara H.

Abstract

Multiple deficiency disorder fibroblasts cultured in MEM-CO2 showed deficiencies of arylsulfatase A(ARS A) comparable to the deficiency in metachromatic leukodystrophy fibroblasts. However, the MSDD fibroblasts cultured in MEM-HEPES contained near normal levels of ARS A. Moreover, the enzyme from the latter fibroblasts was indistinguishable from ARS A of control fibroblasts on DEAE-cellulose chromatography, ratio of activity with several substrates, thermal inactivation, sensitivity to inhibitors, and precipitation by antiserum to human ARS A. These data support the conclusion that the ARS A genome is intact in MSDD fibroblasts and, by extension, in MSDD patients. Other sulfatases were present at levels ranging from mildly deficient to near normal but never as low as seen in the corresponding specific sulfatase deficient disorders.

PMID:: 27985; [PubMed - indexed for MEDLINE]
PMCID:: PMC1685586

Free PMC Article

Publication Types, MeSH Terms, Substances

Publication Types

Research Support, U.S. Gov't, P.H.S.

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Supplemental Content

Save items

Related citations in PubMed

Arysulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts. [Am J Hum Genet. 1979]
Arysulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts.
Fluharty AL, Stevens RL, de la Flor SD, Shapiro LJ, Kihara H. Am J Hum Genet. 1979 Sep; 31(5):574-80.
Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy. [Pediatr Res. 1983]
Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy.
Hreidarsson SJ, Thomas GH, Kihara H, Fluharty AL, Kolodny EH, Moser HW, Reynolds LW. Pediatr Res. 1983 Sep; 17(9):701-4.
Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. [Am J Hum Genet. 1981]
Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy.
Stevens RL, Fluharty AL, Kihara H, Kaback MM, Shapiro LJ, Marsh B, Sandhoff K, Fischer G. Am J Hum Genet. 1981 Nov; 33(6):900-6.
Review Pathochemistry, pathogenesis and enzyme replacement in multiple-sulfatase deficiency. [Enzyme. 1987]
Review Pathochemistry, pathogenesis and enzyme replacement in multiple-sulfatase deficiency.
Eto Y, Gomibuchi I, Umezawa F, Tsuda T. Enzyme. 1987; 38(1-4):273-9.
Review Genetic heterogeneity in metachromatic leukodystrophy. [Am J Hum Genet. 1982]
Review Genetic heterogeneity in metachromatic leukodystrophy.
Kihara H. Am J Hum Genet. 1982 Mar; 34(2):171-81.

See reviews... See all...

Cited by 8 PubMed Central articles

Complementation of multiple sulfatase deficiency in somatic cell hybrids. [Am J Hum Genet. 1984]
Complementation of multiple sulfatase deficiency in somatic cell hybrids.
Fedde K, Horwitz AL. Am J Hum Genet. 1984 May; 36(3):623-33.
Placental steroid deficiency: association with arylsulfatase A deficiency. [Am J Hum Genet. 1982]
Placental steroid deficiency: association with arylsulfatase A deficiency.
Vidgoff J, Buxman MM, Shapiro LJ, Dimond RL, Wilson TG, Hepburn CA, Tabei T, Heinrichs WR. Am J Hum Genet. 1982 May; 34(3):434-43.
Review Genetic heterogeneity in metachromatic leukodystrophy. [Am J Hum Genet. 1982]
Review Genetic heterogeneity in metachromatic leukodystrophy.
Kihara H. Am J Hum Genet. 1982 Mar; 34(2):171-81.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fi...
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.
Am J Hum Genet. 1978 May ;30(3):249-55.

PubMed
Prostaglandin H2 in human platelet activation: coactivator and substitute for th...
Prostaglandin H2 in human platelet activation: coactivator and substitute for thromboxane A2.
Prog Clin Biol Res. 1989 ;301:315-9.

PubMed
Spontaneous pneumothorax, pneumomediastinum, and pneumopericardium in a 16-year-...
Spontaneous pneumothorax, pneumomediastinum, and pneumopericardium in a 16-year-old drug-abusing motorcyclist surrounded by a pack of coyotes.
Postgrad Med. 1989 Oct ;86(5):79-80.

PubMed
Kinetic properties of the accumulation of 3H-raclopride in the mouse brain in vi...
Kinetic properties of the accumulation of 3H-raclopride in the mouse brain in vivo.
Naunyn Schmiedebergs Arch Pharmacol. 1989 Jul ;340(1):6-12.

PubMed
Reversal by liver transplantation of the complications of primary hyperoxaluria ...
Reversal by liver transplantation of the complications of primary hyperoxaluria as well as the metabolic defect.
N Engl J Med. 1989 Oct 19 ;321(16):1100-3.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: