Literature DB >> 26898341

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

Maria J Ferraz1, André R A Marques1, Monique D Appelman1, Marri Verhoek2, Anneke Strijland1, Mina Mirzaian2, Saskia Scheij1, Cécile M Ouairy3, Daniel Lahav3, Patrick Wisse3, Herman S Overkleeft3, Rolf G Boot2, Johannes M Aerts1,2.   

Abstract

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 α-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.
© 2016 Federation of European Biochemical Societies.

Entities:  

Keywords:  Fabry disease; Gaucher disease; acid ceramidase; globotriaosylsphingosine; glucosylsphingosine; glycosphingolipids

Mesh：

Substances：

Year:  2016        PMID： 26898341     DOI： 10.1002/1873-3468.12104

Source DB:  PubMed          Journal:  FEBS Lett        ISSN： 0014-5793            Impact factor:   4.124


  51 in total

1.  Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease.

Authors:  Yumiko V Taguchi; Jun Liu; Jiapeng Ruan; Joshua Pacheco; Xiaokui Zhang; Justin Abbasi; Joan Keutzer; Pramod K Mistry; Sreeganga S Chandra
Journal:  J Neurosci       Date:  2017-08-28       Impact factor: 6.167

2.  Design, Synthesis, and Biological Evaluation of a Series of Oxazolone Carboxamides as a Novel Class of Acid Ceramidase Inhibitors.

Authors:  Samantha Caputo; Simona Di Martino; Vincenzo Cilibrasi; Piero Tardia; Marco Mazzonna; Debora Russo; Ilaria Penna; Maria Summa; Sine Mandrup Bertozzi; Natalia Realini; Natasha Margaroli; Marco Migliore; Giuliana Ottonello; Min Liu; Peter Lansbury; Andrea Armirotti; Rosalia Bertorelli; Soumya S Ray; Renato Skerlj; Rita Scarpelli
Journal:  J Med Chem       Date:  2020-12-08       Impact factor: 7.446

3.  Nicotiana benthamiana α-galactosidase A1.1 can functionally complement human α-galactosidase A deficiency associated with Fabry disease.

Authors:  Kassiani Kytidou; Jules Beekwilder; Marta Artola; Eline van Meel; Ruud H P Wilbers; Geri F Moolenaar; Nora Goosen; Maria J Ferraz; Rebecca Katzy; Patrick Voskamp; Bogdan I Florea; Cornelis H Hokke; Herman S Overkleeft; Arjen Schots; Dirk Bosch; Navraj Pannu; Johannes M F G Aerts
Journal:  J Biol Chem       Date:  2018-04-19       Impact factor: 5.157

4.  Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.

Authors:  Daniel Ysselstein; Joshua M Shulman; Dimitri Krainc
Journal:  Mov Disord       Date:  2019-02-06       Impact factor: 10.338

5.  Distinguishing the differences in β-glycosylceramidase folds, dynamics, and actions informs therapeutic uses.

Authors:  Fredj Ben Bdira; Marta Artola; Herman S Overkleeft; Marcellus Ubbink; Johannes M F G Aerts
Journal:  J Lipid Res       Date:  2018-10-02       Impact factor: 5.922

6.  Glucosylsphingosine is a key biomarker of Gaucher disease.

Authors:  Vagishwari Murugesan; Wei-Lien Chuang; Jun Liu; Andrew Lischuk; Katherine Kacena; Haiqun Lin; Gregory M Pastores; Ruhua Yang; Joan Keutzer; Kate Zhang; Pramod K Mistry
Journal:  Am J Hematol       Date:  2016-08-08       Impact factor: 10.047

7.  Role of β-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish.

Authors:  Lindsey T Lelieveld; Mina Mirzaian; Chi-Lin Kuo; Marta Artola; Maria J Ferraz; Remco E A Peter; Hisako Akiyama; Peter Greimel; Richard J B H N van den Berg; Herman S Overkleeft; Rolf G Boot; Annemarie H Meijer; Johannes M F G Aerts
Journal:  J Lipid Res       Date:  2019-09-27       Impact factor: 5.922

Review 8.  Progress in the understanding and treatment of Fabry disease.

Authors:  James J Miller; Adam J Kanack; Nancy M Dahms
Journal:  Biochim Biophys Acta Gen Subj       Date:  2019-09-14       Impact factor: 3.770

9.  Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target.

Authors:  Yedda Li; Yue Xu; Bruno A Benitez; Murtaza S Nagree; Joshua T Dearborn; Xuntian Jiang; Miguel A Guzman; Josh C Woloszynek; Alex Giaramita; Bryan K Yip; Joseph Elsbernd; Michael C Babcock; Melanie Lo; Stephen C Fowler; David F Wozniak; Carole A Vogler; Jeffrey A Medin; Brett E Crawford; Mark S Sands
Journal:  Proc Natl Acad Sci U S A       Date:  2019-09-16       Impact factor: 11.205

Review 10.  Fabry Disease and the Heart: A Comprehensive Review.

Authors:  Olga Azevedo; Filipa Cordeiro; Miguel Fernandes Gago; Gabriel Miltenberger-Miltenyi; Catarina Ferreira; Nuno Sousa; Damião Cunha
Journal:  Int J Mol Sci       Date:  2021-04-23       Impact factor: 5.923
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.