Varaico: Literature-Extracted Genetic Variants

Gene:UGCG
Variant:p.V394L
Back to variants list

UGCG

NM_003358.3:p.V394L

Associated Papers

Neuronopathic Gaucher disease: Beyond lysosomal dysfunction.

Arévalo NB et al.

Frontiers in Molecular Neuroscience, 2022

Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson's disease and their targeted therapeutic approaches: a comprehensive review.

Behl T et al.

Translational Neurodegeneration, 2021

Molecular regulations and therapeutic targets of Gaucher disease.

Chen Y et al.

Cytokine & Growth Factor Reviews, 2018

CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease.

Marshall J et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2016

Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.

Dai M et al.

Plos One, 2016

Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease.

Sun Y et al.

The Journal of Biological Chemistry, 2012

Animal models for Gaucher disease research.

Farfel-Becker T et al.

Disease Models & Mechanisms, 2011

Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.

Xu YH et al.

The American Journal of Pathology, 2003

Pathology of amino acid deficiency in rats; phenylalanine deficiency.

FERGUSON RL et al.

The American Journal of Pathology, 1948

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."