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Search results 1 to 100 out of 205 for Gba1

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Category: Publication
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Type Details Score
Publication
31685979 | J:302822
First Author: Plotegher N
Year: 2020
Journal: Cell Death Differ
Title: Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload.
Volume: 27
Issue: 5
Pages: 1588-1603
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Publication
28969384 | J:264852
First Author: Migdalska-Richards A
Year: 2017
Journal: Brain
Title: The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice.
Volume: 140
Issue: 10
Pages: 2706-2721
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Publication
29703245 | J:313205
First Author: Kim D
Year: 2018
Journal: Acta Neuropathol Commun
Title: D409H GBA1 mutation accelerates the progression of pathology in A53T α-synuclein transgenic mouse model.
Volume: 6
Issue: 1
Pages: 32
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Publication
34106956 | J:306537
First Author: Polinski NK
Year: 2021
Journal: PLoS One
Title: Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.
Volume: 16
Issue: 6
Pages: e0252325
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Publication
35419585 | J:324506
 
First Author: Polinski NK
Year: 2022
Journal: Dis Model Mech
Title: The GBA1 D409V mutation exacerbates synuclein pathology to differing extents in two alpha-synuclein models.
Volume: 15
Issue: 6
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Publication
23520473 | J:200186
First Author: Sun Y
Year: 2013
Journal: PLoS One
Title: Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease.
Volume: 8
Issue: 3
Pages: e57560
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Publication
36574647 | J:357412
First Author: Zhao X
Year: 2023
Journal: Proc Natl Acad Sci U S A
Title: PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases.
Volume: 120
Issue: 1
Pages: e2210442120
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Publication
39101473 | J:356433
     
First Author: Lin Y
Year: 2024
Journal: Hum Mol Genet
Title: Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease.
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Publication
31299418 | J:286557
 
First Author: Clarke E
Year: 2019
Journal: Neurochem Int
Title: Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia.
Volume: 129
Pages: 104502
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Publication
32833982 | J:293947
First Author: Migdalska-Richards A
Year: 2020
Journal: PLoS One
Title: L444P Gba1 mutation increases formation and spread of α-synuclein deposits in mice injected with mouse α-synuclein pre-formed fibrils.
Volume: 15
Issue: 8
Pages: e0238075
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Publication
30944381 | J:279878
First Author: Liou B
Year: 2019
Journal: Sci Rep
Title: Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype.
Volume: 9
Issue: 1
Pages: 5571
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Publication
35711931 | J:325557
 
First Author: Guo JN
Year: 2022
Journal: Front Genet
Title: Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation.
Volume: 13
Pages: 892457
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Publication
20962279 | J:167081
First Author: Mistry PK
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.
Volume: 107
Issue: 45
Pages: 19473-8
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Publication
35138901 | J:358095
First Author: Kuo SH
Year: 2022
Journal: Sci Adv
Title: Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy.
Volume: 8
Issue: 6
Pages: eabm6393
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Publication
21730160 | J:174360
First Author: Sardi SP
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy.
Volume: 108
Issue: 29
Pages: 12101-6
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Publication
31899072 | J:291156
First Author: Henderson MX
Year: 2020
Journal: Neuron
Title: Glucocerebrosidase Activity Modulates Neuronal Susceptibility to Pathological α-Synuclein Insult.
Volume: 105
Issue: 5
Pages: 822-836.e7
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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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Publication
22595426 | J:185359
First Author: Pandey MK
Year: 2012
Journal: Mol Genet Metab
Title: Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease.
Volume: 106
Issue: 3
Pages: 310-22
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Publication
21223590 | J:168578
 
First Author: Xu YH
Year: 2011
Journal: BMC Genomics
Title: Global gene expression profile progression in Gaucher disease mouse models.
Volume: 12
Pages: 20
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24079945 | J:211409
First Author: Pandey MK
Year: 2014
Journal: Mol Genet Metab
Title: Gaucher disease: chemotactic factors and immunological cell invasion in a mouse model.
Volume: 111
Issue: 2
Pages: 163-71
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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
23297226 | J:193256
First Author: Sardi SP
Year: 2013
Journal: Proc Natl Acad Sci U S A
Title: Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies.
Volume: 110
Issue: 9
Pages: 3537-42
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Publication
28520872 | J:243496
First Author: Soria FN
Year: 2017
Journal: Hum Mol Genet
Title: Glucocerebrosidase deficiency in dopaminergic neurons induces microglial activation without neurodegeneration.
Volume: 26
Issue: 14
Pages: 2603-2615
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Publication
31619543 | J:279956
 
First Author: Burbulla LF
Year: 2019
Journal: Sci Transl Med
Title: A modulator of wild-type glucocerebrosidase improves pathogenic phenotypes in dopaminergic neuronal models of Parkinson's disease.
Volume: 11
Issue: 514
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34509608 | J:312895
 
First Author: Cosden M
Year: 2021
Journal: Neurobiol Dis
Title: A novel glucosylceramide synthase inhibitor attenuates alpha synuclein pathology and lysosomal dysfunction in preclinical models of synucleinopathy.
Volume: 159
Pages: 105507
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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
27789271 | J:269546
 
First Author: Jian J
Year: 2016
Journal: EBioMedicine
Title: Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease.
Volume: 13
Pages: 212-224
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Publication
22659419 | J:286765
First Author: Harzer K
Year: 2012
Journal: Biochem Biophys Res Commun
Title: Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans.
Volume: 423
Issue: 2
Pages: 308-12
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24211208 | J:268017
First Author: Akiyama H
Year: 2013
Journal: Biochem Biophys Res Commun
Title: Cholesterol glucosylation is catalyzed by transglucosylation reaction of β-glucosidase 1.
Volume: 441
Issue: 4
Pages: 838-43
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Publication
23775597 | J:200010
First Author: Pavlova EV
Year: 2013
Journal: J Pathol
Title: B cell lymphoma and myeloma in murine Gaucher's disease.
Volume: 231
Issue: 1
Pages: 88-97
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Publication
38773124 | J:351275
First Author: Walton S
Year: 2024
Journal: NPJ Parkinsons Dis
Title: Neither alpha-synuclein fibril strain nor host murine genotype influences seeding efficacy.
Volume: 10
Issue: 1
Pages: 105
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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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Publication
36639889 | J:353369
First Author: Mahoney-Crane CL
Year: 2023
Journal: J Neurosci
Title: Neuronopathic GBA1L444P Mutation Accelerates Glucosylsphingosine Levels and Formation of Hippocampal Alpha-Synuclein Inclusions.
Volume: 43
Issue: 3
Pages: 501-521
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27378698 | J:237861
First Author: Magalhaes J
Year: 2016
Journal: Hum Mol Genet
Title: Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease.
Volume: 25
Issue: 16
Pages: 3432-3445
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Publication
26312487 | J:243025
First Author: Kitatani K
Year: 2015
Journal: PLoS One
Title: Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's Disease.
Volume: 10
Issue: 8
Pages: e0136633
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Publication
28225753 | J:243863
First Author: Pandey MK
Year: 2017
Journal: Nature
Title: Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.
Volume: 543
Issue: 7643
Pages: 108-112
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1317175 | J:862
First Author: Carstea ED
Year: 1992
Journal: Biochem Biophys Res Commun
Title: Molecular and functional characterization of the murine glucocerebrosidase gene.
Volume: 184
Issue: 3
Pages: 1477-83
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1594045 | J:1100
First Author: Tybulewicz VL
Year: 1992
Journal: Nature
Title: Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.
Volume: 357
Issue: 6377
Pages: 407-10
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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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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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8163674 | J:17577
First Author: Holleran WM
Year: 1994
Journal: J Clin Invest
Title: Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.
Volume: 93
Issue: 4
Pages: 1756-64
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14578207 | J:86334
First Author: Xu YH
Year: 2003
Journal: Am J Pathol
Title: Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.
Volume: 163
Issue: 5
Pages: 2093-101
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7632321 | J:26608
First Author: Willemsen R
Year: 1995
Journal: Mol Chem Neuropathol
Title: A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse.
Volume: 24
Issue: 2-3
Pages: 179-92
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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
27598339 | J:254149
First Author: Dai M
Year: 2016
Journal: PLoS One
Title: Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.
Volume: 11
Issue: 9
Pages: e0162367
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Publication
30225354 | J:271030
 
First Author: Fujita K
Year: 2018
Journal: eNeuro
Title: Ser46-Phosphorylated MARCKS Is a Marker of Neurite Degeneration at the Pre-aggregation Stage in PD/DLB Pathology.
Volume: 5
Issue: 4
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10926300 | J:102303
First Author: Orvisky E
Year: 2000
Journal: Pediatr Res
Title: Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.
Volume: 48
Issue: 2
Pages: 233-7
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25256118 | J:216455
First Author: Pavlova EV
Year: 2015
Journal: J Pathol
Title: Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy.
Volume: 235
Issue: 1
Pages: 113-24
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16954197 | J:113751
First Author: Enquist IB
Year: 2006
Journal: Proc Natl Acad Sci U S A
Title: Effective cell and gene therapy in a murine model of Gaucher disease.
Volume: 103
Issue: 37
Pages: 13819-24
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Publication
21252206 | J:169228
First Author: Farfel-Becker T
Year: 2011
Journal: Hum Mol Genet
Title: Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease.
Volume: 20
Issue: 7
Pages: 1375-86
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24064337 | J:206038
First Author: Farfel-Becker T
Year: 2014
Journal: Hum Mol Genet
Title: Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.
Volume: 23
Issue: 4
Pages: 843-54
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Publication
22566609 | J:279599
First Author: Vitner EB
Year: 2012
Journal: Brain
Title: Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease.
Volume: 135
Issue: Pt 6
Pages: 1724-35
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17954912 | J:127108
First Author: Enquist IB
Year: 2007
Journal: Proc Natl Acad Sci U S A
Title: Murine models of acute neuronopathic Gaucher disease.
Volume: 104
Issue: 44
Pages: 17483-8
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28186340 | J:241139
First Author: Zigdon H
Year: 2017
Journal: FEBS Lett
Title: Altered lysosome distribution is an early neuropathological event in neurological forms of Gaucher disease.
Volume: 591
Issue: 5
Pages: 774-783
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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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27234572 | J:241548
First Author: Vardi A
Year: 2016
Journal: J Pathol
Title: Delineating pathological pathways in a chemically induced mouse model of Gaucher disease.
Volume: 239
Issue: 4
Pages: 496-509
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25775479 | J:229633
First Author: Zigdon H
Year: 2015
Journal: PLoS One
Title: Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease.
Volume: 10
Issue: 3
Pages: e0120194
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22912851 | J:190059
First Author: Cabrera-Salazar MA
Year: 2012
Journal: PLoS One
Title: Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease.
Volume: 7
Issue: 8
Pages: e43310
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28981147 | J:253746
First Author: Smith NJ
Year: 2018
Journal: J Pathol
Title: Reduced cerebral vascularization in experimental neuronopathic Gaucher disease.
Volume: 244
Issue: 1
Pages: 120-128
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9482915 | J:46243
First Author: Liu Y
Year: 1998
Journal: Proc Natl Acad Sci U S A
Title: Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure.
Volume: 95
Issue: 5
Pages: 2503-8
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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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10214939 | J:54096
First Author: Doering T
Year: 1999
Journal: FEBS Lett
Title: Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice.
Volume: 447
Issue: 2-3
Pages: 167-70
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Publication
24599400 | J:211000
First Author: Xu YH
Year: 2014
Journal: Hum Mol Genet
Title: Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.
Volume: 23
Issue: 15
Pages: 3943-57
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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
34884512 | J:328129
 
First Author: Magnusen AF
Year: 2021
Journal: Int J Mol Sci
Title: C-X-C Motif Chemokine Ligand 9 and Its CXCR3 Receptor Are the Salt and Pepper for T Cells Trafficking in a Mouse Model of Gaucher Disease.
Volume: 22
Issue: 23
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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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17509920 | J:122455
First Author: McEachern KA
Year: 2007
Journal: Mol Genet Metab
Title: A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease.
Volume: 91
Issue: 3
Pages: 259-67
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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
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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20673762 | J:165299
First Author: Cabrera-Salazar MA
Year: 2010
Journal: Exp Neurol
Title: Intracerebroventricular delivery of glucocerebrosidase reduces substrates and increases lifespan in a mouse model of neuronopathic Gaucher disease.
Volume: 225
Issue: 2
Pages: 436-44
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26712461 | J:232735
First Author: Argmann CA
Year: 2016
Journal: Cell Metab
Title: A Next Generation Multiscale View of Inborn Errors of Metabolism.
Volume: 23
Issue: 1
Pages: 13-26
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35489416 | J:328649
First Author: Zhang NR
Year: 2022
Journal: J Lipid Res
Title: Validation of a multiplexed and targeted lipidomics assay for accurate quantification of lipidomes.
Volume: 63
Issue: 6
Pages: 100218
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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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3863141 | J:8046
First Author: Ginns EI
Year: 1985
Journal: Proc Natl Acad Sci U S A
Title: Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.
Volume: 82
Issue: 20
Pages: 7101-5
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Publication
8071612 | J:18085
First Author: Holleran WM
Year: 1994
Journal: J Lipid Res
Title: Permeability barrier requirements regulate epidermal beta-glucocerebrosidase.
Volume: 35
Issue: 5
Pages: 905-12
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7475311 | J:30281
 
First Author: Nimgaonkar M
Year: 1995
Journal: Leukemia
Title: Long-term expression of the glucocerebrosidase gene in mouse and human hematopoietic progenitors.
Volume: 9 Suppl 1
Pages: S38-42
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- | J:45121
   
First Author: Beutler E
Year: 1995
Title: Gaucher disease (chapter 86)
Volume: II
Pages: 2641-2670
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Publication
23706823 | J:199259
First Author: Di Giacomo M
Year: 2013
Journal: Mol Cell
Title: Multiple epigenetic mechanisms and the piRNA pathway enforce LINE1 silencing during adult spermatogenesis.
Volume: 50
Issue: 4
Pages: 601-8
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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
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
18346921 | J:136093
First Author: Xu YH
Year: 2008
Journal: Mol Genet Metab
Title: Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.
Volume: 94
Issue: 2
Pages: 190-203
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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
30981829 | J:281482
 
First Author: Watson L
Year: 2019
Journal: Neurobiol Dis
Title: Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.
Volume: 127
Pages: 563-569
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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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