Condition: Tay-Sachs Disease


rs1057516755 in HEXA gene and Tay-Sachs Disease PMID 16088929 2005 Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

PMID 1532289 1992 Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.

PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 2970528 1988 A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.

PMID 2522679 1989 The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.

PMID 7837766 1994 Molecular genetics of Tay-Sachs disease in Japan.

PMID 27682588 2016 Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.

PMID 9338583 1997 Tay-Sachs disease and HEXA mutations among Moroccan Jews.

PMID 8445615 1993 Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

PMID 8490625 1993 Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

PMID 8581357 1995 GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.

PMID 8757036 1996 Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.

PMID 14566483 2003 Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

PMID 9603435 1998 W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.

PMID 9401008 1997 Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

PMID 9150157 1997 Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

PMID 7951261 1994 Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.

PMID 7717398 1995 Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

PMID 1837283 1991 Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.

PMID 1301189 1992 A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.

PMID 1302612 1992 A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.

PMID 1301190 1992 Novel Tay-Sachs disease mutations from China.

PMID 6959123 1982 Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease.

PMID 8328462 1993 beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.

PMID 7858168 1994 Molecular epidemiology of Tay-Sachs disease in Europe.

PMID 2220809 1990 Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.

PMID 20363167 2010 Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay.

PMID 15714079 2005 Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

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

PMID 8044648 1993 Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.

PMID 18490185 2008 Structural consequences of amino acid substitutions causing Tay-Sachs disease.

PMID 16698036 2006 Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.

PMID 2140574 1990 Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.

PMID 1827944 1991 A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.

PMID 20100466 2010 Rapid identification of HEXA mutations in Tay-Sachs patients.

PMID 22441121 2012 Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

PMID 24498621 2013 Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.

PMID 24767253 2014 Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

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

PMID 25557439 2015 Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.

PMID 16948947 2006 Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.

PMID 1301938 1992 A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.

PMID 19091716 2009 Late-onset Tay-Sachs disease presenting as a childhood stutter.

PMID 1833974 1991 Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.

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

PMID 12202988 2002 Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.

PMID 14577003 2003 Structural basis of the GM2 gangliosidosis B variant.

PMID 24518553 2014 Three novel mutations in Iranian patients with Tay-Sachs disease.

PMID 10083731 1999 Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease.

PMID 2141777 1990 A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.

PMID 1322637 1992 Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.

PMID 1825014 1991 Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.

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

PMID 9851891 1998 At least six different mutations in HEXA gene cause Tay-Sachs disease among the Turkish population.

PMID 21796138 2011 Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

PMID 1483696 1992 The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.

PMID 7827134 1995 Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients.

PMID 9603435 1998 When the W474C-containing alpha-subunit was transiently co-expressed with the beta-subunit to produce Hex A (alphabeta) in COS-7 cells, the mature alpha-subunit was present, but its level was much lower than that from normal alpha-subunit transfections, although higher than in those cells transfected with an alpha-subunit associated with infantile TSD.

PMID 9222766 1997 Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report.

PMID 2973464 1988 Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease.

PMID 3362213 1988 Identification of an altered splice site in Ashkenazi Tay-Sachs disease.

PMID 2837213 1988 A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease.

PMID 3375249 1988 Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.

PMID 10571007 1999 Biochemical consequences of mutations causing the GM2 gangliosidoses.

PMID 25287655 2015 Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 9090529 1997 Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level.

PMID 12180151 2003 Eight novel mutations in the HEXA gene.

PMID 28739864 2017 Late-onset Tay-Sachs disease.

PMID 8484765 1993 The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.

PMID 12027830 2002 Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.

PMID 23035047 2012 Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

PMID 7551830 1995 An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.

PMID 16088929 2005 As previously reported, the c.533G>A (p.R178H) mutation was present either in homozygosity or as compound heterozygote, in all the patients with the late onset TSD form (B1 Variant); the allele frequency in this group is discussed by comparison with that found in infantile TSD.

PMID 1832817 1991 GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.

PMID 2961848 1988 Mutation in GM2-gangliosidosis B1 variant.

PMID 1831451 1991 Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease.

PMID 2934978 1985 GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.

PMID 6236221 1984 Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency.

PMID 11463833 2001 Nonsense-mediated decay of human HEXA mRNA.

PMID 27959697 2017 Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

PMID 2848800 1988 The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.

PMID 24374108 2014 Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing.

PMID 14727180 2004 Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.

PMID 27033294 2016 Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations.

PMID 20672374 2010 Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

PMID 16352452 2006 Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.

PMID 1307230 1992 The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.

PMID 28503624 2019 Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.

PMID 1830584 1991 Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease.

PMID 24940364 2014 Molecular study of lysosomal storage disorders in India.

PMID 8730294 1996 Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.

PMID 22344438 2012 A systematic survey of loss-of-function variants in human protein-coding genes.

PMID 19858779 2010 Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.

PMID 8444467 1993 A null allele frequent in non-Jewish Tay-Sachs patients.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 1387685 1992 Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.

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

PMID 1827945 1991 A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.

PMID 9272736 1997 A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.

PMID 22390110 2011 "Tay-Sach disease with ""cherry-red spot""--first reported case in Malaysia."

PMID 7749419 1995 Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease.

PMID 22723944 2012 We conclude that TSD patients from Gujarat should be screened for the common mutation p.E462V.

rs121907964 in HEXA-AS1;HEXA gene and Tay-Sachs Disease PMID 21567908 2011 GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.

PMID 21967858 2011 Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

PMID 25606403 2014 The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.

PMID 1384323 1992 A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

PMID 1532289 1992 Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.

PMID 21796138 2011 Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

PMID 18358410 2008 Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmus.

PMID 8445615 1993 Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

PMID 8490625 1993 Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 2522679 1989 The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.

PMID 1301190 1992 Novel Tay-Sachs disease mutations from China.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 14566483 2003 Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

PMID 27682588 2016 Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.

PMID 1302612 1992 A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.

PMID 1837283 1991 Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.

PMID 1301189 1992 A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.

PMID 7951261 1994 Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.

PMID 8757036 1996 Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 9603435 1998 W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.

PMID 7837766 1994 Molecular genetics of Tay-Sachs disease in Japan.

PMID 9150157 1997 Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

PMID 9401008 1997 Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

PMID 2970528 1988 A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.

PMID 8581357 1995 GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.

PMID 7717398 1995 Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

PMID 9338583 1997 Tay-Sachs disease and HEXA mutations among Moroccan Jews.

PMID 12180151 2003 Eight novel mutations in the HEXA gene.

rs786204721 in HEXA;HEXA-AS1 gene and Tay-Sachs Disease PMID 8445615 1993 Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

PMID 11161796 2001 Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation.

PMID 16088929 2005 Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

PMID 3837850 1985 Can ACG serve as an initiation codon for protein synthesis in eucaryotic cells?

PMID 12180151 2003 Eight novel mutations in the HEXA gene.

PMID 24767253 2014 Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

PMID 22441121 2012 Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

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