Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.

Animals Biocatalysis Cerebellar Ataxia / genetics Glucosylceramidase Humans Locomotion / genetics Loss of Function Mutation Mice Mice, Knockout Spastic Paraplegia, Hereditary / genetics Species Specificity beta-Glucosidase / antagonists & inhibitors
GBA2 actin cytoskeleton ataxia cerebellar ataxia cytoskeleton glucosylceramide glycerosphingolipid neurite outgrowth neuroscience β-glucosidases

Journal

The Journal of biological chemistry
ISSN: 1083-351X
Titre abrégé: J Biol Chem
Pays: United States
ID NLM: 2985121R

Informations de publication

Date de publication:
15 03 2019
Historique:
received: 16 10 2018
revised: 16 01 2019
pubmed: 22 1 2019
medline: 31 5 2019
entrez: 22 1 2019
Statut: ppublish

Résumé

The nonlysosomal glucosylceramidase β2 (GBA2) catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the human

Identifiants

DOI: 10.1074/jbc.RA118.006311 PMID: 30662006 PMC: PMC6422076
pubmed: 30662006
pii: S0021-9258(20)41801-0
doi: 10.1074/jbc.RA118.006311
pmc: PMC6422076
doi:

Substances chimiques

beta-Glucosidase EC 3.2.1.21
beta-glucosidase 2, mouse EC 3.2.1.21
GBA2 protein, human EC 3.2.1.45
Glucosylceramidase EC 3.2.1.45

Banques de données

PDB
['5BVU']

Types de publication

Comparative Study Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

3853-3871

Informations de copyright

© 2019 Woeste et al.

Références

J Biol Chem. 2013 Feb 1;288(5):3381-93
pubmed: 23250757
Biochem Biophys Res Commun. 2015 Sep 11;465(1):35-40
pubmed: 26220345
Dev Neurobiol. 2009 Oct;69(12):761-79
pubmed: 19513994
Lancet. 1983 May 21;1(8334):1151-5
pubmed: 6133167
Curr Med Res Opin. 2009 Jan;25(1):23-37
pubmed: 19210136
Semin Neurol. 2011 Nov;31(5):484-93
pubmed: 22266886
Am J Hum Genet. 2013 Feb 7;92(2):238-44
pubmed: 23332916
Blood Cells Mol Dis. 2013 Aug;51(2):116-24
pubmed: 23683771
PLoS Genet. 2015 Mar 24;11(3):e1005063
pubmed: 25803043
J Biol Chem. 2007 Nov 9;282(45):32655-64
pubmed: 17848577
PLoS One. 2015 Sep 29;10(9):e0138107
pubmed: 26418157
Neurochem Res. 2012 Jun;37(6):1344-54
pubmed: 22350518
J Clin Invest. 2006 Nov;116(11):2985-94
pubmed: 17080196
Methods Enzymol. 2018;598:217-235
pubmed: 29306436
Acta Crystallogr D Struct Biol. 2016 Jul;72(Pt 7):860-70
pubmed: 27377383
Hum Reprod. 2006 May;21(5):1309-15
pubmed: 16396932
J Neurotrauma. 2006 Mar-Apr;23(3-4):537-48
pubmed: 16629635
ACS Chem Biol. 2016 Jul 15;11(7):1891-900
pubmed: 27115290
PLoS One. 2017 Jan 4;12(1):e0169309
pubmed: 28052128
J Neurosci. 1997 May 1;17(9):2929-38
pubmed: 9096129
Cell. 2014 Jan 16;156(1-2):208-20
pubmed: 24439377
Front Mol Neurosci. 2017 Nov 28;10:386
pubmed: 29234271
J Neurol. 2014 Feb;261(2):373-81
pubmed: 24337409
Cochrane Database Syst Rev. 2015 Mar 27;(3):CD010324
pubmed: 25812601
Methods Mol Biol. 2014;1166:199-215
pubmed: 24852637
Biochim Biophys Acta. 2011 May;1811(5):314-22
pubmed: 21397038
J Neurosci Res. 2007 Feb 1;85(2):231-7
pubmed: 17149752
Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):17173-8
pubmed: 12477936
J Biol Chem. 2007 Jan 12;282(2):1305-12
pubmed: 17105727
J Clin Invest. 2004 Jan;113(2):231-42
pubmed: 14722615
Neurogenetics. 2010 Oct;11(4):369-78
pubmed: 20661613
J Lipid Res. 2016 Mar;57(3):451-63
pubmed: 26724485
Small GTPases. 2014;5:e27974
pubmed: 24936971
J Biol Chem. 1993 Jul 5;268(19):14476-81
pubmed: 8314804
Appl Theor Electrophor. 1991;2(2-3):63-9
pubmed: 1756185
Ann Hum Genet. 2014 Jan;78(1):13-22
pubmed: 24252062
J Biol Chem. 2002 Jun 7;277(23):20386-98
pubmed: 11919180
Clin Neurol Neurosurg. 2018 May;168:60-63
pubmed: 29524657
J Biol Chem. 2017 Apr 14;292(15):6177-6189
pubmed: 28258214
Mol Genet Metab. 2018 Feb;123(2):148-153
pubmed: 28728877
ACS Cent Sci. 2017 Jul 26;3(7):784-793
pubmed: 28776021
Nucleic Acids Res. 2018 Jul 2;46(W1):W296-W303
pubmed: 29788355
Biochim Biophys Acta. 2008 Apr;1778(4):1100-11
pubmed: 18230327
Pharmacogenomics. 2008 Jun;9(6):717-31
pubmed: 18518850
Orphanet J Rare Dis. 2013 Sep 26;8:151
pubmed: 24070122
J Biol Chem. 1998 Oct 9;273(41):26522-7
pubmed: 9756888
Nat Protoc. 2007;2(9):2159-65
pubmed: 17853872
Exp Neurol. 2005 Feb;191(2):251-65
pubmed: 15649480
Am J Hum Genet. 2013 Feb 7;92(2):245-51
pubmed: 23332917
J Neurochem. 1995 Oct;65(4):1551-61
pubmed: 7561849
Reprod Biol Endocrinol. 2007 Jan 22;5:1
pubmed: 17241468
Curr Biol. 2012 Jun 19;22(12):1109-15
pubmed: 22608511
J Neurochem. 2017 Dec;143(6):645-659
pubmed: 28796418

Auteurs

Marina A Woeste (MA)

From the Institute of Innate Immunity, University Hospital, University of Bonn, 53127 Bonn, Germany.

Sina Stern (S)

the German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.

Diana N Raju (DN)

From the Institute of Innate Immunity, University Hospital, University of Bonn, 53127 Bonn, Germany.
ORCID: 0000-0002-0482-0941

Elena Grahn (E)

the Center of Advanced European Studies and Research (Caesar), 53175 Bonn, Germany.

Dominik Dittmann (D)

From the Institute of Innate Immunity, University Hospital, University of Bonn, 53127 Bonn, Germany.

Katharina Gutbrod (K)

the Institute of Molecular Physiology and Biotechnology of Plants, University of Bonn, 53115 Bonn, Germany.

Peter Dörmann (P)

the Institute of Molecular Physiology and Biotechnology of Plants, University of Bonn, 53115 Bonn, Germany.
ORCID: 0000-0002-5845-9370

Jan N Hansen (JN)

From the Institute of Innate Immunity, University Hospital, University of Bonn, 53127 Bonn, Germany.
ORCID: 0000-0002-0489-7535

Sophie Schonauer (S)

the Center of Advanced European Studies and Research (Caesar), 53175 Bonn, Germany.

Carina E Marx (CE)

the Center of Advanced European Studies and Research (Caesar), 53175 Bonn, Germany.

Hussein Hamzeh (H)

the Center of Advanced European Studies and Research (Caesar), 53175 Bonn, Germany.

Heinz G Körschen (HG)

the Center of Advanced European Studies and Research (Caesar), 53175 Bonn, Germany.
ORCID: 0000-0003-3927-1433

Johannes M F G Aerts (JMFG)

the Leiden Institute of Chemistry, Leiden University, 2333 CD Leiden, The Netherlands.

Wolfgang Bönigk (W)

the Center of Advanced European Studies and Research (Caesar), 53175 Bonn, Germany.

Heike Endepols (H)

the Institute of Radiochemistry and Experimental Molecular Imaging (IREMB) and Department of Nuclear Medicine, University Hospital of Cologne, 50937 Cologne, Germany.

Roger Sandhoff (R)

the Department of Cellular and Molecular Pathology, German Cancer Research Center, Heidelberg, Germany.
the Lipid Pathobiochemistry Group, German Cancer Research Center, 69120 Heidelberg, Germany, and.

Matthias Geyer (M)

the Institute of Structural Biology, University Hospital, University of Bonn, 53127 Bonn, Germany.

Thomas K Berger (TK)

the Center of Advanced European Studies and Research (Caesar), 53175 Bonn, Germany.

Frank Bradke (F)

the German Center for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.

Dagmar Wachten (D)

From the Institute of Innate Immunity, University Hospital, University of Bonn, 53127 Bonn, Germany, dwachten@uni-bonn.de.
the Center of Advanced European Studies and Research (Caesar), 53175 Bonn, Germany.
ORCID: 0000-0003-4800-6332

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Species-specific differences in nonlysosomal...
questionsmedicales.fr › Métabolisme › Biocatalyse › Species-specific differences in nonlysosomal...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Ataxie › Ataxie cérébelleuse › Species-specific differences in nonlysosomal...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Glucosidases › Glucosylceramidase › Species-specific differences in nonlysosomal...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Species-specific differences in nonlysosomal...
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système locomoteur › Mouvement › Locomotion › Species-specific differences in nonlysosomal...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation perte de fonction › Species-specific differences in nonlysosomal...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Species-specific differences in nonlysosomal...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Souris knockout › Species-specific differences in nonlysosomal...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Neuropathie héréditaire motrice et sensitive › Paraplégie spasmodique héréditaire › Species-specific differences in nonlysosomal...
questionsmedicales.fr › Phénomènes biologiques › Spécificité d'espèce › Species-specific differences in nonlysosomal...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Glycosidases › Glucosidases › Cellulases › bêta-Glucosidase › Species-specific differences in nonlysosomal...