Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases

被引：120

作者：

Ferraz, Maria J. ^{[1
]}

Marques, Andre R. A. ^{[1
]}

Appelman, Monique D. ^{[1
]}

Verhoek, Marri ^{[2
]}

Strijland, Anneke ^{[1
]}

Mirzaian, Mina ^{[2
]}

Scheij, Saskia ^{[1
]}

Ouairy, Cecile M. ^{[3
]}

Lahav, Daniel ^{[3
]}

Wisse, Patrick ^{[3
]}

Overkleeft, Herman S. ^{[3
]}

Boot, Rolf G. ^{[2
]}

Aerts, Johannes M. ^{[1
,2
]}

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Med Biochem, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands

[2] Leiden Univ, Leiden Inst Chem, Dept Med Biochem, Room 0-13,Einsteinweg 55, NL-2333 CC Leiden, Netherlands

[3] Leiden Univ, Leiden Inst Chem, Dept Bioorgan Synth, NL-2333 CC Leiden, Netherlands

来源：

FEBS LETTERS | 2016年 / 590卷 / 06期

关键词：

acid ceramidase; Fabry disease; Gaucher disease; globotriaosylsphingosine; glucosylsphingosine; glycosphingolipids; FABRY-DISEASE; GAUCHER-DISEASE; PLASMA GLOBOTRIAOSYLSPHINGOSINE; ALPHA-GALACTOSIDASE; ATOPIC-DERMATITIS; GLUCOSYLSPHINGOSINE; GLUCOSYLCERAMIDE; INHIBITORS; QUANTIFICATION; ACCUMULATION;

D O I：

10.1002/1873-3468.12104

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Glycosphingoid bases are elevated in inherited lysosomal storage disorders with deficient activity of glycosphingolipid catabolizing glycosidases. We investigated the molecular basis of the formation of glucosylsphingosine and globotriaosylsphingosine during deficiency of glucocerebrosidase (Gaucher disease) and alpha-galactosidase A (Fabry disease). Independent genetic and pharmacological evidence is presented pointing to an active role of acid ceramidase in both processes through deacylation of lysosomal glycosphingolipids. The potential pathophysiological relevance of elevated glycosphingoid bases generated through this alternative metabolism in patients suffering from lysosomal glycosidase defects is discussed.

引用

页码：716 / 725

页数：10

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