Condition: Sandhoff Disease


rs764552042 in GFM2;HEXB gene and Sandhoff Disease PMID 22848519 2012 Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

PMID 27682710 2016 Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.

PMID 22789865 2012 GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

PMID 21567908 2011 GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.

PMID 23113155 2012 Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients.

PMID 26582265 2016 Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.

rs121907982 in HEXB gene and Sandhoff Disease PMID 8950198 1996 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.

PMID 9694901 1998 A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.

PMID 1720305 1991 Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.

PMID 7557963 1995 A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.

PMID 8357844 1993 Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.

PMID 9401004 1997 Molecular basis of heat labile hexosaminidase B among Jews and Arabs.

PMID 7626071 1995 A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.

PMID 9856491 1998 Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.

PMID 1531140 1992 A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.

PMID 7633435 1995 A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.

PMID 23010210 2013 Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans.

PMID 20798201 2010 New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.

PMID 12166653 2002 Molecular and structural studies of the GM2 gangliosidosis 0 variant.

PMID 20926324 2011 An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).

PMID 23759947 2013 Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis.

PMID 22789865 2012 GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

PMID 9562328 1998 Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case.

PMID 9694901 1998 A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.

PMID 24613245 2014 Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.

PMID 19823769 2010 Occurrence of an anomalous endocytic compartment in fibroblasts from Sandhoff disease patients.

PMID 23046579 2013 Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.

PMID 29448188 2018 Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.

PMID 8162015 1994 Impact of premature stop codons on mRNA levels in infantile Sandhoff disease.

PMID 18758829 2009 Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.

PMID 21483992 2011 New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.

PMID 26582265 2016 Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.

PMID 9475608 1998 Splicing mutation causes infantile Sandhoff disease.

PMID 22848519 2012 Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 27021291 2016 Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.

PMID 2522450 1989 Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12.

PMID 2170400 1990 Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase.

PMID 2147031 1990 Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient.

PMID 17015493 2006 The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

PMID 1386607 1992 An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

PMID 17237499 2007 Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

PMID 23127958 2013 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.

PMID 24263030 2013 Adult Sandhoff disease with 2 mutations in the HEXB gene presenting as brachial amyotrophic diplegia.

PMID 25736553 2015 Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.

PMID 21150067 2011 A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.

PMID 24356898 2014 Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.

PMID 8076944 1994 Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection.

PMID 7550345 1995 Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.

PMID 1532910 1992 Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.

PMID 23113155 2012 Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients.

rs121907984 in HEXB;GFM2 gene and Sandhoff Disease PMID 1720305 1991 Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.

PMID 8950198 1996 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.

PMID 1531140 1992 A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.

PMID 9694901 1998 A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.

PMID 9401004 1997 Molecular basis of heat labile hexosaminidase B among Jews and Arabs.

PMID 7633435 1995 A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.

PMID 8357844 1993 Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.

PMID 7557963 1995 A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.

PMID 7626071 1995 A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.

PMID 9856491 1998 Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.