Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.A341T
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GBA1

NM_000157.4:p.A341T

Associated Papers

Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.

Peterschmitt MJ et al.

Journal of Parkinson's Disease, 2022

34897099 (PubMed )
Supplement: jpd-12-jpd212714-s001.pdf

Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients.

Machaczka M et al.

Blood Cells, Molecules & Diseases, 2018

Novel pathogenic mutations in the glucocerebrosidase locus.

Duran R et al.

Molecular Genetics and Metabolism, 2012

Acid beta-glucosidase: insights from structural analysis and relevance to Gaucher disease therapy.

Kacher Y et al.

Biological Chemistry, 2008

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

Hruska KS et al.

Human Mutation, 2008

An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease.

Atrian S et al.

Proteins, 2008

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Koprivica V et al.

American Journal of Human Genetics, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."