Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy

Human Mutation

Volumn 7, Issue 4, 1996, Pages 311-317

  Hess, Barbara ^a   Kafert, Sabine ^a   Heinisch, Uwe ^a   Wenger, David A ^b   Zlotogora, Joel ^c   Gieselmann, Volkmar ^a  

^a UNIVERSITY OF KIEL   (Germany)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Arylsulfatase A; Lysosomes; Metachromatic leukodystrophy

Indexed keywords

CEREBROSIDE SULFATASE; COMPLEMENTARY DNA; MUTANT PROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN BHK; DNA SEQUENCE; ENZYME DEFICIENCY; GENE EXPRESSION; GENE MUTATION; HUMAN; INFANT; INFANT DISEASE; LYSOSOME STORAGE DISEASE; METACHROMATIC LEUKODYSTROPHY; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL;

AGE OF ONSET; ANIMALS; BASE SEQUENCE; CELL LINE; CEREBROSIDE-SULFATASE; CRICETINAE; DNA PRIMERS; DNA, COMPLEMENTARY; HUMANS; INFANT; LEUKODYSTROPHY, METACHROMATIC; MOLECULAR SEQUENCE DATA; MUTATION; RNA SPLICING;

EID: 0030011885     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:4<311::AID-HUMU4>3.0.CO;2-B     Document Type: Article

References (10)

1. Artelt P, Morell C, Ansmeier M, Fitzek M, Hauser M (1988) Vectors for efficient expression in mammalian fibroblasts, myeloid, lymphoid cells via transfection. Gene 68:213-219.
2. Barth ML, Fensom A, Harris A (1993) Missense mutations in the arylsulfatase A gene of metachromatic leukodystrophy patients. Hum Mol Genet 2:2117-2121.
3. Gieselmann V, Schmidt B, von Figura K (1992) In vitro mutagenesis of potential N-glycosylation sites of arylsulfatase A. J Biol Chem 267:13262-13266.
4. Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris P (1994) Mutation update - Molecular Genetics of Metachromatic Leukodystrophy. Hum Mutat 4:233-242.
5. Gough NM (1988) Rapid and quantitative preparation of cystoplasmatic RNA from small numbers of cells. Anal Biochem 173:93-95.
6. Gustavson KH, Hagberg B (1971) The incidence and genetics of metachromatic leukodystrophy in Northern Sweden. Acta Pediatr Scand 60:585-590.
7. Harvey JS, Nelson PV, Robertson EF, Morris CP (1993) An arylsulfatase A missense mutation (T274M) causing late infantile metachromatic leukodystrophy. Hum Mutat 2:261-267.
8. Stein C, Gieselmann V, Kreysing J, Schmidt B, Pohlmann R, Waheed A, Meyer HE, O'Brien JS, von Figura K (1989) Cloning and expression of human arylsulfatase A. J Biol Chem 264:1252-1259.
9. Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, Hanyu Y, Hashimoto T, Titani K, Oyama R, Suzuki M, Yagi K, Hayashi Y, Orii T (1991) Morquio disease: isolation and expression of full length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun 181:677-683.
10. Waheed A, Hasilik A, von Figura K (1982) Enhanced breakdown of arylsulfatase A in multiple sulfatase deficiency. Eur J Biochem 123:317-321.