A mutation in SCARB2 is a modifier in Gaucher disease - Wikidata - wikimedia - TriplyDB

A mutation in SCARB2 is a modifier in Gaucher disease

A mutation in SCARB2 is a modifier in Gaucher disease

http://www.wikidata.org/entity/Q28244287

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Glucocerebrosidase is shaking up the synucleinopathies The role of saposin C in Gaucher disease Molecular mechanism of SCARB2-mediated attachment and uncoating of EV71 Lysosomal integral membrane protein-2: a new player in lysosome-related pathology LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data Emerging insights into the mechanistic link between α-synuclein and glucocerebrosidase in Parkinson's disease The LIMP-2/SCARB2 binding motif on acid β-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases.Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease.Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects.Gaucher disease paradigm: from ERAD to comorbidity.Treatment options for lysosomal storage disorders: developing insights.Detection and impact of rare regulatory variants in human disease.Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance.SCARB2/LIMP-2 Regulates IFN Production of Plasmacytoid Dendritic Cells by Mediating Endosomal Translocation of TLR9 and Nuclear Translocation of IRF7.

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A mutation in SCARB2 is a modifier in Gaucher disease

http://www.wikidata.org/entity/Q28244287

description

2011 nî lūn-bûn

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2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2011 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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A mutation in SCARB2 is a modifier in Gaucher disease

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A mutation in SCARB2 is a modifier in Gaucher disease

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A mutation in SCARB2 is a modifier in Gaucher disease

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A mutation in SCARB2 is a modifier in Gaucher disease

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A mutation in SCARB2 is a modifier in Gaucher disease

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A mutation in SCARB2 is a modifier in Gaucher disease

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A mutation in SCARB2 is a modifier in Gaucher disease

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Arash Velayati

http://www.w3.org/2001/XMLSchema#string

Barbara K Stubblefield

http://www.w3.org/2001/XMLSchema#string

Edwin Kolodny

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Ehud Goldin

http://www.w3.org/2001/XMLSchema#string

Ellen Sidransky

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Jae H Choi

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John DePaolo

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Nahid Tayebi

http://www.w3.org/2001/XMLSchema#string

Nidhi Gupta

http://www.w3.org/2001/XMLSchema#string

Nima Moaven

http://www.w3.org/2001/XMLSchema#string

P2860

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease.

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Two acidic amino acid residues, Asp(470) and Glu(471), contained in the carboxyl cytoplasmic tail of a major lysosomal membrane protein, LGP85/LIMP II, are important for its accumulation in secondary lysosomes.

Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients.

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.

Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.

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10.1002/HUMU.21566

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2011-11-01T00:00:00Z

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21796727

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