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
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
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: novel mutation from India - a case report with a review.
Sheth J et al.
Bmc Pediatrics, 2016
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings.
Renaud D et al.
Jimd Reports, 2016
The enzyme-binding region of human GM2-activator protein.
Wendeler M et al.
The Febs Journal, 2006
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
Catabolism of asialo-GM2 in man and mouse. Specificity of human/mouse chimeric GM2 activator proteins.
Bertoni C et al.
The Journal of Biological Chemistry, 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
Biochemical characterization of the Cys138Arg substitution associated with the AB variant form of GM2 gangliosidosis: evidence that Cys138 is required for the recognition of the GM2 activator/GM2 ganglioside complex by beta-hexosaminidase A.
Xie B et al.
Biochemistry, 1998
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