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GLB1 gene

Known as: Galactosidase, Beta 1 Gene, galactosidase beta 1, ELASTIN RECEPTOR 1 
This gene plays a role in ganglioside metabolism.
National Institutes of Health

Related topics

Related topics

7 relations
Beta-Galactosidase, humanChondrodysplasia punctata, X-linked dominant typeEBPL geneGLB1L gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
[Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis].
GM1 gangliosidosis is an autosomal recessive disorder caused by galactosidase beta1 (GLB1) gene variants which affect the… 
2018
2018
Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II
Beta‐galactosidase‐1 (GLB1) is a lysosomal hydrolase that is responsible for breaking down specific glycoconjugates, particularly… 
2017
2017
Major mutation p.His281Tyr in Gene GLB1 in patients with GM1-gangliosidosis in Ukraine
Mutation analysis of gene GLB1 in 26 patients from different regions of Ukraine diagnosed with GM1-gangliosidosis identified 15… 
2016
2016
Identification and characterization of six new mutations in GLB1 gene in Ukrainian patients with GM1 gangliosidosis and Morquio B disease
N. Y. Mytsyk, N. G. Gorovenko © 2016 N. Y. Mytsyk et al.; Published by the Institute of Molecular Biology and Genetics, NAS of… 
2013
2013
Molecular characterization of ovine GM1 gangliosidosis
Ovine GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder. Affected lambs are born relatively normal, however… 
2011
2011
A viviparous mutant of maize exhibiting permanent water stress symptoms
In maize vivipary, the precocious germination of the seed while it is still attached to the ear is a reliable phenotype for the… 
2007
2007
Immune reactivity to a homologue of wheat storage globulin, Glb1 in human type 1 diabetes
Type 1 diabetes (T1D) is a T cell mediated autoimmune disease dependent on gene‐environment interaction. A wheat storage globulin… 
2003
2003
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient
We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1… 
Highly Cited
2003
Highly Cited
2003
A Type 1 Diabetes-related Protein from Wheat (Triticum aestivum)
The development of autoimmune type 1 diabetes involves complex interactions among several genes and environmental agents. Human… 
2002
2002
GLB1 new polymorphism interferes with the residual enzymatic activity of mutated β‐galactosidase
Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive disorder, characterized by early onset of… 
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