Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
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Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathiesViable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synucleinNeurological deficits and glycosphingolipid accumulation in saposin B deficient mice.Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice.Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model.Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouseGlobal gene expression profile progression in Gaucher disease mouse modelsImpaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutationsMultiple pathogenic proteins implicated in neuronopathic Gaucher disease miceThe pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.Multi-system disorders of glycosphingolipid and ganglioside metabolismSubstrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher diseaseIdentification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.The Broad Impact of TOM40 on Neurodegenerative Diseases in AgingUbiquitous transgene expression of the glucosylceramide-synthesizing enzyme accelerates glucosylceramide accumulation and storage cells in a Gaucher disease mouse model.Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's DiseaseEx vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease.Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin.Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse modelThe biodegradability of electrospun Dextran/PLGA scaffold in a fibroblast/macrophage co-culture.Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice.Covalent inhibitors of glycosidases and their applications in biochemistry and biology.Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease.Animal models for Gaucher disease research.Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse models.Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance.Prosaposin is a regulator of progranulin levels and oligomerization.Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficitsModulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.The Role of Lipids Interacting with α-Synuclein in the Pathogenesis of Parkinson's Disease.Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse modelsCNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.The lipoprotein receptor-related protein-1 (LRP) adapter protein GULP mediates trafficking of the LRP ligand prosaposin, leading to sphingolipid and free cholesterol accumulation in late endosomes and impaired efflux.Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model.Lysosomal trafficking defects link Parkinson's disease with Gaucher's disease.
P2860
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P2860
Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Gaucher disease mouse models: ...... sion lead to disease variants.
@en
Gaucher disease mouse models: ...... sion lead to disease variants.
@nl
type
label
Gaucher disease mouse models: ...... sion lead to disease variants.
@en
Gaucher disease mouse models: ...... sion lead to disease variants.
@nl
prefLabel
Gaucher disease mouse models: ...... sion lead to disease variants.
@en
Gaucher disease mouse models: ...... sion lead to disease variants.
@nl
P2093
P2860
P1476
Gaucher disease mouse models: ...... sion lead to disease variants.
@en
P2093
Brian Quinn
David P Witte
Gregory A Grabowski
P2860
P304
P356
10.1194/JLR.M500202-JLR200
P577
2005-08-01T00:00:00Z