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Gangliosidosis, Generalized GM1, Type 1 (disorder)

Known as: Gangliosidosis GM1, Infantile, Type I GM1-Gangliosidoses, Generalized Gangliosidosis 
National Institutes of Health

Related topics

Related topics

16 relations
Autosomal recessive inheritanceCerebral degenerationCerebral lipidosesDwarfism

Broader (1)

Gangliosidosis GM1

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation
GM1 gangliosidosis (GM1) is an inherited neurodegenerative disorder caused by mutations in the lysosomal β‐galactosidase (β‐gal… 
Highly Cited
2013
Highly Cited
2013
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.
Lysosomal β-galactosidase (β-Gal) deficiency causes a group of disorders that include neuronopathic GM1 gangliosidosis and non… 
2012
2012
Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.
2009
2009
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β‐galactosidase
Alterations in GLB1, the gene coding for acid β‐D‐galactosidase (β‐Gal), can result in GM1 gangliosidosis (GM1), a… 
2007
2007
Cerebrospinal fluid biomarkers showing neurodegeneration in dogs with GM1 gangliosidosis: Possible use for assessment of a therapeutic regimen
2006
2006
Neuroimaging findings in infantile GM1 gangliosidosis.
Highly Cited
2004
Highly Cited
2004
The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction
A myelin deficit in the cerebral white matter in infantile GM1 gangliosidosis is well established. Some have proposed this… 
1981
1981
Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots
An infant with GM1 gangliosidosis was found to have an eruption at birth consisting of extensive and unusual slate blue macules… 
1979
1979
GM1-gangliosidosis: Chromosome 3 assignment of theβ-galactosidase-A gene (βGALA)
The structural gene (βGALA) coding for lysosomal β-galactosidase- A (EC 3.2.1.23) has been assigned to human chromosome 3 using… 
Highly Cited
1976
Highly Cited
1976
Neuronal-visceral GM1 gangliosidosis in a dog with beta-galactosidase deficiency.
A 9-month-old dog with a history of progressive motor dysfunction was shown to have a deficiency in brain beta-galactosidase… 
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