Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.S54N
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GLB1

NM_000404.4:p.S54N

Associated Papers

GM1 Gangliosidosis-A Mini-Review.

Nicoli ER et al.

Frontiers in Genetics, 2021

Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.

Losada Díaz JC et al.

International Journal of Molecular Sciences, 2019

Structural and functional mapping of Rtg2p determinants involved in retrograde signaling and aging of Saccharomyces cerevisiae.

Rios-Anjos RM et al.

Plos One, 2017

Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.

Higaki K et al.

Human Mutation, 2011

The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.

Caciotti A et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009

Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.

Caciotti A et al.

The American Journal of Pathology, 2005

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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."