Varaico: Literature-Extracted Genetic Variants

Gene:NAGLU
Variant:p.V501G
Back to variants list

NAGLU

NM_000263.4:p.V501G

Associated Papers

Metabolic rewiring and autophagy inhibition correct lysosomal storage disease in mucopolysaccharidosis IIIB.

Scarcella M et al.

Iscience, 2024

A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.

Mauri V et al.

Plos One, 2013

Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated.

Villani GR et al.

Journal of Inherited Metabolic Disease, 2012

Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.

Tessitore A et al.

Human Genetics, 2000

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."