A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD)-Reference-Cited by-同舟云学术

A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD)

Published:2000-02 Issue:1 Volume:23 Page:63-76
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Wrobe D.¹,Henseler M.²,Huettler S.¹,Pascual Pascual S. I.³,Chabas A.⁴,Sandhoff K.¹

Affiliation:

1. ; Kekulé-Institut für Organische Chemie und Biochemie; Universität Bonn; Bonn Germany

2. ; Pharmazeutisches Institut; Biozentrum der Universität Frankfurt; Frankfurt am Main Germany

3. ; Hospital Infantil ‘La Paz’; Madrid Spain

4. Institut Bioquímica Clínica Barcelona; Barcelona Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005603014401/fullpdf

Reference36 articles.

1. Accumulation of sphingolipids in SAPprecursor (prosaposin)-deficient fibroblasts occurs as intralysosomal membrane structures and can be completely reversed by treatment with human SAP-precursor;Burkhardt;Eur J Cell Biol,1997

2. Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant;Christomanou;Biol Chem Hoppe Seyler,1986

3. Human acid β-glucosidase. Use of inhibitory and activating monoclonal antibodies to investigate the enzyme‚s catalytic mechanism and saposin A and C binding sites;Fabbro;J Biol Chem,1991

4. Biosynthesis of the sulfatide/GM1 activator protein (SAP-1) in control and mutant cultured skin fibroblasts;Fujibayashi;Biochim Biophys Acta,1986

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