Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Blondel A et al.
Molecular Genetics and Metabolism, 2023
P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.
Rahmani Z et al.
Metabolic Brain Disease, 2022
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
Mahdieh N et al.
Clinical Neurology and Neurosurgery, 2018
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
Zhang W et al.
Metabolic Brain Disease, 2016
Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.
Fitterer B et al.
Molecular Genetics and Metabolism, 2014
Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.
Yamada K et al.
Journal of Biochemistry, 2013
Biochemical consequences of mutations causing the GM2 gangliosidoses.
Mahuran DJ
Biochimica Et Biophysica Acta, 1999
Biology and potential strategies for the treatment of GM2 gangliosidoses.
Chavany C et al.
Molecular Medicine Today, 1998
The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci.
Cordeiro P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Select a paper to view details