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

被引：115
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
收藏
页码：716 / 725
页数：10
相关论文
共 43 条
  • [1] Elevated globotriaosylsphingosine is a hallmark of Fabry disease
    Aerts, Johannes M.
    Groener, Johanna E.
    Kuiper, Sijmen
    Donker-Koopman, Wilma E.
    Strijland, Anneke
    Ottenhoff, Roelof
    van Roomen, Cindy
    Mirzaian, Mina
    Wijburg, Frits A.
    Linthorst, Gabor E.
    Vedder, Anouk C.
    Rombach, Saskia M.
    Cox-Brinkman, Josanne
    Somerharju, Pentti
    Boot, Rolf G.
    Hollak, Carla E.
    Brady, Roscoe O.
    Poorthuis, Ben J.
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (08) : 2812 - 2817
  • [2] Small fiber neuropathy in Fabry disease
    Biegstraaten, Marieke
    Hollak, Carla E. M.
    Bakkers, Mayienne
    Faber, Catharina G.
    Aerts, Johannes M. F. G.
    van Schaik, Ivo N.
    [J]. MOLECULAR GENETICS AND METABOLISM, 2012, 106 (02) : 135 - 141
  • [3] BLIGH EG, 1959, CAN J BIOCHEM PHYS, V37, P911
  • [4] CCL18: A urinary marker of Gaucher cell burden in Gaucher patients
    Boot, Rolf G.
    Verhoek, Marri
    Langeveld, Mirjam
    Renkema, G. Herma
    Hollak, Carla E. M.
    Weening, Jan J.
    Donker-Koopman, Wilma E.
    Groener, Johanna E.
    Aerts, Johannes M. F. G.
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 (04) : 564 - 571
  • [5] The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain
    Choi, L.
    Vernon, J.
    Kopach, O.
    Mitlett, M. S.
    Mills, K.
    Clayton, P. T.
    Meert, T.
    Wood, J. N.
    [J]. NEUROSCIENCE LETTERS, 2015, 594 : 163 - 168
  • [6] The cellular pathology of lysosomal diseases
    Cox, Timothy M.
    Cachon-Gonzalez, M. Begona
    [J]. JOURNAL OF PATHOLOGY, 2012, 226 (02) : 241 - 254
  • [7] ENZYMATIC-SYNTHESIS OF GLUCOSYLSPHINGOSINE BY RAT-BRAIN MICROSOMES
    CURTINO, JA
    CAPUTTO, R
    [J]. LIPIDS, 1972, 7 (08) : 525 - &
  • [8] Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
    Dekker, Nick
    van Dussen, Laura
    Hollak, Carla E. M.
    Overkleeft, Herman
    Scheij, Saskia
    Ghauharali, Karen
    van Breemen, Marielle J.
    Ferraz, Maria J.
    Groener, Johanna E. M.
    Maas, Mario
    Wijburg, Frits A.
    Speijer, Dave
    Tylki-Szymanska, Anna
    Mistry, Pramod K.
    Boot, Rolf G.
    Aerts, Johannes M.
    [J]. BLOOD, 2011, 118 (16) : E118 - E127
  • [9] REGULATION OF BILIARY LIPID SECRETION BY MDR2 P-GLYCOPROTEIN IN THE MOUSE
    ELFERINK, RPJO
    OTTENHOFF, R
    VANWIJLAND, M
    SMIT, JJM
    SCHINKEL, AH
    GROEN, AK
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1995, 95 (01) : 31 - 38
  • [10] Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses
    Ferraz, Maria J.
    Kallemeijn, Wouter W.
    Mirzaian, Mina
    Moro, Daniela Herrera
    Marques, Andre
    Wisse, Patrick
    Boot, Rolf G.
    Willems, Lianne I.
    Overkleeft, H. S.
    Aerts, J. M.
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, 2014, 1841 (05): : 811 - 825
12345