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Search results 301 to 325 out of 325 for Gba2

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Type Details Score
Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
23332917 | -
First Author: Hammer MB
Year: 2013
Journal: Am J Hum Genet
Title: Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Volume: 92
Issue: 2
Pages: 245-51
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DO Term
DOID:0110798 | hereditary spastic paraplegia 46
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Protein
Q69ZF3
Organism: Mus musculus/domesticus
Length: 918  
Fragment?: false
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Protein
B1AWI3
Organism: Mus musculus/domesticus
Length: 230  
Fragment?: true
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Protein Domain
IPR024462 | GH116_N
Type: Domain
Description: This entry represents the N-terminal domain found in the CAZyme GH116 family members, which presently includes enzymes with beta-glucosidase (), beta-xylosidase () , and glucocerebrosidase () activity [, ]. The N-terminal is thought to be the luminal domain while the C-terminal is the cytosolic domain.Proteins containing this domain include animal non-lysosomal glucosylceramidase GBA2, which catalyse the conversion of glucosylceramide to free glucose and ceramide []. GBA2 is involved in sphingomyelin generation and prevention of glycolipid accumulation and may also catalyse the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo []. Mutations in the human protein cause motor-neurone defects in hereditary spastic paraplegia [].
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Protein Domain
IPR006775 | GH116_catalytic
Type: Domain
Description: This entry represents the catalytic region found in the CAZyme GH116 family members, which presently includes enzymes with beta-glucosidase (), beta-xylosidase () , and glucocerebrosidase () activity []. Proteins containing this domain include animal non-lysosomal glucosylceramidase GBA2, which catalyse the conversion of glucosylceramide to free glucose and ceramide []. GBA2 is involved in sphingomyelin generation and prevention of glycolipid accumulation and may also catalyse the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo []. Mutations in the human protein cause motor-neurone defects in hereditary spastic paraplegia []. The catalytic nucleophile, identified in is a glutamine-335, with the likely acid/base at Asp-442 and the aspartates at Asp-406 and Asp-458 residues also playing a role in the catalysis of glucosides and xylosides that are beta-bound to hydrophobic groups [].
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Publication
17105727 | -
First Author: Boot RG
Year: 2007
Journal: J Biol Chem
Title: Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2.
Volume: 282
Issue: 2
Pages: 1305-12
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Publication
20427274 | -
First Author: Cobucci-Ponzano B
Year: 2010
Journal: J Biol Chem
Title: A new archaeal beta-glycosidase from Sulfolobus solfataricus: seeding a novel retaining beta-glycan-specific glycoside hydrolase family along with the human non-lysosomal glucosylceramidase GBA2.
Volume: 285
Issue: 27
Pages: 20691-703
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Publication
31447678 | J:284438
 
First Author: Bouscary A
Year: 2019
Journal: Front Pharmacol
Title: Ambroxol Hydrochloride Improves Motor Functions and Extends Survival in a Mouse Model of Familial Amyotrophic Lateral Sclerosis.
Volume: 10
Pages: 883
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Publication
18362393 | J:138463
First Author: Su Z
Year: 2008
Journal: J Lipid Res
Title: Candidate genes for plasma triglyceride, FFA, and glucose revealed from an intercross between inbred mouse strains NZB/B1NJ and NZW/LacJ.
Volume: 49
Issue: 7
Pages: 1500-10
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Publication
28847804 | J:253020
First Author: Taguchi YV
Year: 2017
Journal: J Neurosci
Title: Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease.
Volume: 37
Issue: 40
Pages: 9617-9631
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Publication
24070122 | J:202681
 
First Author: Yildiz Y
Year: 2013
Journal: Orphanet J Rare Dis
Title: Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
Volume: 8
Pages: 151
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