Associated Papers
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases.
Yoldaş Çelik M et al.
Molecular Genetics and Metabolism Reports, 2025
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.
Martins C et al.
Molecular Genetics and Metabolism Reports, 2017
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings.
Renaud D et al.
Jimd Reports, 2016
Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.
Salih MA et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
Crystal structure of human GM2-activator protein with a novel beta-cup topology.
Wright CS et al.
Journal of Molecular Biology, 2000
Biochemical consequences of mutations causing the GM2 gangliosidoses.
Mahuran DJ
Biochimica Et Biophysica Acta, 1999
Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.
Chen B et al.
American Journal of Human Genetics, 1999
Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.
Schepers U et al.
American Journal of Human Genetics, 1996
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