Associated Papers
Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.
Godbole NP et al.
Annals of Clinical and Translational Neurology, 2024
Clinical and genetic features of a case with juvenile onset sandhoff disease.
Yin JH et al.
Bmc Neurology, 2023
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
Wu C et al.
Brain : a Journal of Neurology, 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
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
Santos M et al.
Cells, 2022
Natural History of Adult Patients with GM2 Gangliosidosis.
Masingue M et al.
Annals of Neurology, 2020
Decreased Activity of the Ghrhr and Gh Promoters Causes Dominantly Inherited GH Deficiency in Humanized GH1 Mouse Models.
Ariyasu D et al.
Endocrinology, 2019
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
Identification of mutations in HEXA and HEXB in Sandhoff and Tay-Sachs diseases: a new large deletion caused by Alu elements in HEXA.
Dastsooz H et al.
Human Genome Variation, 2018
Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.
Yasui N et al.
Journal of Human Genetics, 2013
GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
Gort L et al.
Gene, 2012
New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.
Delnooz CC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells.
Tropak MB et al.
The Febs Journal, 2007
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
Maegawa GH et al.
The Journal of Biological Chemistry, 2007
MRS reveals additional hexose N-acetyl resonances in the brain of a mouse model for Sandhoff disease.
Lowe JP et al.
Nmr in Biomedicine, 2005
Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.
Utsumi K et al.
Acta Neurologica Scandinavica, 2002
Molecular and structural studies of the GM2 gangliosidosis 0 variant.
Sakuraba H et al.
Journal of Human Genetics, 2002
Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case.
Hara A et al.
Journal of the Neurological Sciences, 1998
Molecular basis of heat labile hexosaminidase B among Jews and Arabs.
Narkis G et al.
Human Mutation, 1997
Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Redonnet-Vernhet I et al.
Biochimica Et Biophysica Acta, 1996
Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.
Tews I et al.
Nature Structural Biology, 1996