Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy

American Journal of Human Genetics

Volumn 58, Issue 1, 1996, Pages 65-74

  Henseler, M ^a   Klein, A ^a   Reber, M ^a   Vanier, M T ^b   Landrieu, P ^c   Sandhoff, K ^a  

^a UNIVERSITY OF BONN   (Germany)

^b CNRS   (France)

^c BICÊTRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE; MUTANT PROTEIN; PROTEIN PRECURSOR; SPHINGOLIPID ACTIVATOR PROTEIN;

ARTICLE; CASE REPORT; ENDOPLASMIC RETICULUM; GENE MUTATION; HUMAN; HUMAN CELL; INTRACELLULAR TRANSPORT; MALE; METACHROMATIC LEUKODYSTROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PROCESSING; RNA SPLICING;

CRICETINAE;

EID: 0029656306     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Artelt P, Morelle C, Ausmeier M, Fitzek M, Hauser H (1988) Vectors for efficient expression in mammalian fibroblastoid, myeloid and lymphoid cells via transfection or infection. Gene 68:213-219
2. Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K (1987) Current protocols in molecular biology. Wiley Interscience, New York
3. Bonifacino JS, Suzuki CK, Lippincott-Schwartz J, Weissman AM, Klausner RD (1989) Pre-Golgi degradation of newly synthesized T cell antigen receptor chains: intrinsic sensitivity and the role of subunit assembly. J Cell Biol 109:73-83
4. Christomanou H, Aignesberger A, Linke RP (1986) Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro: absence of one of them in a human Gaucher disease variant. Biol Chem Hoppe-Seyler 367:879-890
5. Fujibayashi S, Wenger DA (1986a) Biosynthesis of the sulfatide/GM1 activator protein (SAP-1) in control and mutant cultured skin fibroblasts. Biochim Biophys Acta 875:554562