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Search results 1 to 73 out of 73 for Gba

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Hits by Pathway

Hits by Category

Type Details Score
Gene
key_79397 | GBA
Type: gene
Organism: horse
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Gene
key_79399 | GBA
Type: gene
Organism: pig, domestic
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Gene
106627981 | LOC106627981
Type: gene
Organism: human
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UniProt Feature
UniProt Feature
Begin: 304
Description: GBA
Type: short sequence motif
End: 334
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UniProt Feature
UniProt Feature
Begin: 1674
Description: GBA
Type: short sequence motif
End: 1704
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UniProt Feature
UniProt Feature
Begin: 1652
Description: GBA
Type: short sequence motif
End: 1683
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UniProt Feature
UniProt Feature
Begin: 302
Description: GBA
Type: short sequence motif
End: 332
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UniProt Feature
UniProt Feature
Begin: 213
Description: GBA
Type: short sequence motif
End: 243
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Publication
30160596 | J:278121
First Author: Li H
Year: 2019
Journal: Autophagy
Title: Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations.
Volume: 15
Issue: 1
Pages: 113-130
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Publication
29310663 | J:264998
First Author: Yun SP
Year: 2018
Journal: Mol Neurodegener
Title: α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.
Volume: 13
Issue: 1
Pages: 1
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Publication
22665763 | J:185511
First Author: Liu J
Year: 2012
Journal: Proc Natl Acad Sci U S A
Title: Gaucher disease gene GBA functions in immune regulation.
Volume: 109
Issue: 25
Pages: 10018-23
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Strain
MGI:4834623 | B6.129-Gba1<tm1Karl>/Kctt
Attribute String: targeted mutation, mutant strain, congenic
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Strain
MGI:4834626 | B6.129-Gba1<tm2Karl>/Kctt
Attribute String: congenic, mutant strain, targeted mutation
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Publication
26378614 | J:319195
First Author: Du TT
Year: 2015
Journal: Autophagy
Title: GBA deficiency promotes SNCA/α-synuclein accumulation through autophagic inhibition by inactivated PPP2A.
Volume: 11
Issue: 10
Pages: 1803-20
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Publication
30689867 | J:274748
First Author: Ikuno M
Year: 2019
Journal: Hum Mol Genet
Title: GBA haploinsufficiency accelerates alpha-synuclein pathology with altered lipid metabolism in a prodromal model of Parkinson's disease.
Volume: 28
Issue: 11
Pages: 1894-1904
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Publication
31233883 | J:282237
 
First Author: Jackson KL
Year: 2019
Journal: Neurobiol Dis
Title: Viral delivery of a microRNA to Gba to the mouse central nervous system models neuronopathic Gaucher disease.
Volume: 130
Pages: 104513
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Publication
34536552 | J:312973
 
First Author: Johnson ME
Year: 2021
Journal: Neurobiol Dis
Title: Heterozygous GBA D409V and ATP13a2 mutations do not exacerbate pathological α-synuclein spread in the prodromal preformed fibrils model in young mice.
Volume: 159
Pages: 105513
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Allele
Gba1<em3Smoc> | MGI:7289832
Name: glucosylceramidase beta 1; endonuclease-mediated mutation 3, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Not Specified
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Protein Coding Gene
MGI:95665 | Gba1
Type: protein_coding_gene
Organism: mouse, laboratory
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DO Term
DOID:0110957 | Gaucher's disease type I
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Allele
Gba1<em1Smoc> | MGI:7289830
Name: glucosylceramidase beta 1; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Not Specified
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HT Experiment
GSE207765 | RNA seq analysis on immune cells isolated from nGD mice brain
 
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
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HT Experiment
GSE207766 | scRNA seq analysis on immune cells isolated from nGD mice brain
 
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
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Allele
Gba1<tm1.1Eginn> | MGI:5587841
Name: glucosylceramidase beta 1; targeted mutation 1.1, Edward I Ginns
Allele Type: Targeted
Attribute String: Hypomorph
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Allele
Gba1<tm2.1Eginn> | MGI:5587918
Name: glucosylceramidase beta 1; targeted mutation 2.1, Edward I Ginns
Allele Type: Targeted
Attribute String: Hypomorph
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Strain
MGI:6354799 | C57BL/6J-Gba<em1Smoc>/Smoc
Attribute String: coisogenic, mutant strain, endonuclease-mediated mutation
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Allele
Gba1<em2Smoc> | MGI:7289831
Name: glucosylceramidase beta 1; endonuclease-mediated mutation 2, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Conditional ready, No functional change
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Allele
Tg(CAG-GBA*N409S)#Clk | MGI:6209785
Name: transgene insertion, Lorne A Clarke
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
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Allele
Tg(CAG-GBA*L483P)8Clk | MGI:6209788
Name: transgene insertion 8, Lorne A Clarke
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
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Publication
24388731 | J:211953
First Author: Ginns EI
Year: 2014
Journal: Mol Genet Metab
Title: Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction.
Volume: 111
Issue: 2
Pages: 152-62
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Strain
MGI:6209787 | STOCK Gba1<tm1.1Clk> Tg(CAG-GBA*N409S)#Clk/Mmjax
Attribute String: mutant stock, transgenic, targeted mutation
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Strain
MGI:6209790 | STOCK Gba1<tm1.1Clk> Tg(CAG-GBA*L483P)8Clk/Mmjax
Attribute String: transgenic, mutant stock, targeted mutation
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Allele
Gba1<tm1Bst> | MGI:3652590
Name: glucosylceramidase beta 1; targeted mutation 1, Paul Bornstein
Allele Type: Targeted
Attribute String: Humanized sequence
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Strain
MGI:5906214 | B6.129X1(C)-Gba1<tm1.1Eginn>/J
Attribute String: congenic, mutant strain, targeted mutation
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Strain
MGI:5906215 | B6.129X1(C)-Gba1<tm2.1Eginn>/J
Attribute String: targeted mutation, mutant strain, congenic
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Strain
MGI:6429682 | C57BL/6J-Gba<em2Smoc>/Smoc
Attribute String: coisogenic, mutant strain, endonuclease-mediated mutation
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Strain
MGI:6428706 | C57BL/6J-Gba<em2Smoc>/Smoc
Attribute String: coisogenic, mutant strain, endonuclease-mediated mutation
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Allele
Gba/Mtx1<tm1Bst> | MGI:3652597
Name: metaxin 1; targeted mutation 1, Paul Bornstein
Allele Type: Targeted
Attribute String: Humanized sequence
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Genotype
Genotype
Symbol: Gba1/Gba1
Background: involves: 129X1/SvJ * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gba1/Gba1
Background: involves: 129X1/SvJ * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Strain
MGI:7567793 | B6.129(C)-Gba1<tm1.1Eginn>/Gba1<tm1Nsb>/Esidr
Attribute String: congenic, mutant strain, targeted mutation
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Publication
23642305 | J:266060
First Author: Sanders A
Year: 2013
Journal: Blood Cells Mol Dis
Title: Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease.
Volume: 51
Issue: 2
Pages: 109-15
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Publication
38339105 | J:346668
 
First Author: Furderer ML
Year: 2024
Journal: Int J Mol Sci
Title: A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-In Murine Models of Gaucher Disease.
Volume: 25
Issue: 3
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Genotype
Genotype
Symbol: Gba1/Gba1 Gba/Mtx1/Gba/Mtx1
Background: involves: 129S4/SvJae
Zygosity: cx
Has Mutant Allele: true
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Publication
21954067 | J:177669
First Author: Farfel-Becker T
Year: 2011
Journal: Dis Model Mech
Title: Animal models for Gaucher disease research.
Volume: 4
Issue: 6
Pages: 746-52
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Publication
23707074 | J:199258
First Author: Osellame LD
Year: 2013
Journal: Cell Metab
Title: Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease.
Volume: 17
Issue: 6
Pages: 941-53
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Publication
7753840 | J:25197
First Author: Bornstein P
Year: 1995
Journal: Proc Natl Acad Sci U S A
Title: Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease.
Volume: 92
Issue: 10
Pages: 4547-51
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Genotype
Genotype
Symbol: Gba1/Gba1 Gba/Mtx1/Mtx1<+>
Background: involves: 129S/SvEv * 129S4/SvJae
Zygosity: cx
Has Mutant Allele: true
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Publication
26724485 | J:231478
First Author: Marques AR
Year: 2016
Journal: J Lipid Res
Title: Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases.
Volume: 57
Issue: 3
Pages: 451-63
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Publication
17079175 | J:117763
First Author: Sinclair GB
Year: 2007
Journal: Mol Genet Metab
Title: Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher disease.
Volume: 90
Issue: 2
Pages: 148-56
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Publication
34202076 | J:313737
 
First Author: Do J
Year: 2021
Journal: Int J Mol Sci
Title: Behavioral Phenotyping in a Murine Model of GBA1-Associated Parkinson Disease.
Volume: 22
Issue: 13
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Publication
29173981 | J:273957
First Author: Tayebi N
Year: 2017
Journal: Mol Genet Metab
Title: Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.
Volume: 122
Issue: 4
Pages: 198-208
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Publication
24441827 | J:206864
First Author: Vitner EB
Year: 2014
Journal: Nat Med
Title: RIPK3 as a potential therapeutic target for Gaucher's disease.
Volume: 20
Issue: 2
Pages: 204-8
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Publication
34571934 | J:311506
 
First Author: Peng Y
Year: 2021
Journal: Cells
Title: Substrate Reduction Therapy Reverses Mitochondrial, mTOR, and Autophagy Alterations in a Cell Model of Gaucher Disease.
Volume: 10
Issue: 9
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Publication
34686711 | J:313974
First Author: Viel C
Year: 2021
Journal: Sci Rep
Title: Preclinical pharmacology of glucosylceramide synthase inhibitor venglustat in a GBA-related synucleinopathy model.
Volume: 11
Issue: 1
Pages: 20945
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Publication
24639522 | J:207369
First Author: Mistry PK
Year: 2014
Journal: Proc Natl Acad Sci U S A
Title: Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.
Volume: 111
Issue: 13
Pages: 4934-9
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Publication
33727605 | J:304839
First Author: Weber M
Year: 2021
Journal: Sci Rep
Title: Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity.
Volume: 11
Issue: 1
Pages: 6079
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Publication
26275242 | J:242773
First Author: Marques AR
Year: 2015
Journal: PLoS One
Title: Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice.
Volume: 10
Issue: 8
Pages: e0135889
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Publication
29547959 | J:261581
First Author: Papadopoulos VE
Year: 2018
Journal: Hum Mol Genet
Title: Modulation of β-glucocerebrosidase increases α-synuclein secretion and exosome release in mouse models of Parkinson's disease.
Volume: 27
Issue: 10
Pages: 1696-1710
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Publication
8370169 | J:15039
First Author: Bernstein KA
Year: 1993
Journal: Clin Exp Immunol
Title: Serum glomerular binding activity is highly correlated with renal disease in MRL/lpr mice.
Volume: 93
Issue: 3
Pages: 418-23
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Publication
24212238 | J:204182
First Author: Gaspar P
Year: 2014
Journal: J Lipid Res
Title: Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis.
Volume: 55
Issue: 1
Pages: 138-45
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Publication
11749048 | J:74199
First Author: Ponce E
Year: 2001
Journal: Mol Genet Metab
Title: Temporal and spatial expression of murine acid beta-glucosidase mRNA.
Volume: 74
Issue: 4
Pages: 426-34
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Publication
8443967 | J:4919
First Author: Bernstein K
Year: 1993
Journal: Clin Exp Immunol
Title: Detection of glomerular-binding immune elements in murine lupus using a tissue-based ELISA.
Volume: 91
Issue: 3
Pages: 449-55
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Publication
8660965 | J:32844
First Author: Long GL
Year: 1996
Journal: Genomics
Title: Structure and organization of the human metaxin gene (MTX) and pseudogene.
Volume: 33
Issue: 2
Pages: 177-84
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Publication
25835295 | J:224707
First Author: Uemura N
Year: 2015
Journal: PLoS Genet
Title: Viable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein.
Volume: 11
Issue: 4
Pages: e1005065
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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
33549745 | J:304097
First Author: Yañez MJ
Year: 2021
Journal: Biochim Biophys Acta Mol Basis Dis
Title: c-Abl activates RIPK3 signaling in Gaucher disease.
Volume: 1867
Issue: 5
Pages: 166089
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Publication
35972072 | J:336415
   
First Author: Boddupalli CS
Year: 2022
Journal: Elife
Title: Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy.
Volume: 11
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Publication
25351739 | J:217865
First Author: Fishbein I
Year: 2014
Journal: Brain
Title: Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation.
Volume: 137
Issue: Pt 12
Pages: 3235-47
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Publication
30927072 | J:294451
First Author: Bieri G
Year: 2019
Journal: Acta Neuropathol
Title: LRRK2 modifies α-syn pathology and spread in mouse models and human neurons.
Volume: 137
Issue: 6
Pages: 961-980
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Publication
31449520 | J:279444
First Author: Giguère N
Year: 2019
Journal: PLoS Genet
Title: Increased vulnerability of nigral dopamine neurons after expansion of their axonal arborization size through D2 dopamine receptor conditional knockout.
Volume: 15
Issue: 8
Pages: e1008352
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Publication
29735433 | J:264772
 
First Author: Hallett PJ
Year: 2018
Journal: Neurobiol Aging
Title: Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain.
Volume: 67
Pages: 189-200
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Publication
- | J:238766
     
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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