| Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum. | Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
Ibrahim DMA, Ali OSM, Nasr H, Fateen E, AbdelAleem A., Free PMC Article | 03/20/2023 |
| Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients. | Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
Abtahi R, Karimzadeh P, Rezayi A, Salehpour S, Akbarzadeh D, Tonekaboni SH, Emameh RZ, Houshmand M. | 04/9/2022 |
| Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy. | Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.
Park JH, Ko JM, Kim MS, Kim MJ, Seong MW, Yoo T, Lim BC, Chae JH., Free PMC Article | 02/5/2022 |
| In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize beta-hexosaminidase A causing Tay-Sachs disease. | In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.
Almanasra A, Havranek B, Islam SM. | 02/5/2022 |
| Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.", trans "Tay-Sachs-Syndrom: zwei neue, seltene HEXA-Mutationen aus Pakistan und Marokko. | Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Bibi F, Ullah A, Bourinaris T, Efthymiou S, Kriouile Y, Sultan T, Haider S, Salpietro V, Houlden H, Kaukab Raja G. | 09/18/2021 |
| Novel bicistronic lentiviral vectors correct beta-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis. | Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis.
Ornaghi F, Sala D, Tedeschi F, Maffia MC, Bazzucchi M, Morena F, Valsecchi M, Aureli M, Martino S, Gritti A. | 01/16/2021 |
| The study characterized 34 enzymatically confirmed Tay-Sachs disease (TSD) families to investigate the presence of novel as well as known variants in HEXA gene. There were detected 25 variants belonging to 31 affected TSD patients and 3 carrier couples confirmed by enzyme study. | Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.
Mistri M, Mehta S, Solanki D, Kamate M, Gupta N, Kabra M, Puri R, Girisha K, Hariharan S, Nampoothiri S, Sheth F, Sheth J. | 05/16/2020 |
| Use of MLPA assay for detecting large copy number changes in the HEXA gene. | Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.
Sheth J, Mistri M, Mahadevan L, Mehta S, Solanki D, Kamate M, Sheth F., Free PMC Article | 04/20/2019 |
| Reported data present, for the first time, reference values for urinary activities of HEX and its isoenzymes HEX A and HEX B in children and adolescent. | Pediatric reference data on activity of urinary N-acetyl-β-D-hexosaminidase and its isoenzymes.
Zalewska-Szajda B, Taranta-Janusz K, Chojnowska S, Waszkiewicz N, Zwierz K, Wasilewska A. | 09/22/2018 |
| The alpha mutants E482K and G269S are defective in enzymatic activity, unprocessed by lysosomal proteases, and exhibit altered folding pathways compared with wild-type alpha. E482K is more severely misfolded than G269S, as observed by its aggregation and inability to associate with the HexA beta chain. Importantly, both mutants are retrotranslocated from the endoplasmic reticulum to the cytosol and are degraded by the ... | Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.
Dersh D, Iwamoto Y, Argon Y., Free PMC Article | 09/9/2017 |
| reports a new missense mutation in the HEXA gene in two German siblings with late-onset Tay-Sachs disease and prominent psychiatric symptoms | Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.
Stendel C, Gallenmüller C, Peters K, Bürger F, Gramer G, Biskup S, Klopstock T. | 01/30/2016 |
| The silencing of the HEXA gene had a stronger immune inhibitory effect, thereby indicating a major involvement of beta-N-acetyl-hexosaminidase A isoenzyme within this mechanism. | Knock-down of HEXA and HEXB genes correlate with the absence of the immunostimulatory function of HSC-derived dendritic cells.
Tiribuzi R, D'Angelo F, Berardi AC, Martino S, Orlacchio A. | 08/29/2015 |
| Human prostate cancer cells are characterised by a significant decrease in HexA activity. | Hypermethylation contributes to down-regulation of lysosomal β-hexosaminidase α subunit in prostate cancer cells.
Costanzi E, Urbanelli L, Bellezza I, Magini A, Emiliani C, Minelli A. | 12/20/2014 |
| DNA reveals novel mutations in Iranian subjects causing Tay-Sachs disease in the alpha and beta subunits of HexA. | Three novel mutations in Iranian patients with Tay-Sachs disease.
Jamali S, Eskandari N, Aryani O, Salehpour S, Zaman T, Kamalidehghan B, Houshmand M., Free PMC Article | 11/8/2014 |
| GM2 gangliosidosis is caused by the gene mutation. (review) | [Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].
Tsuji D. | 04/5/2014 |
| Identification of six novel missense mutations in children affected with Tay Sachs disease from India. | Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
Mistri M, Tamhankar PM, Sheth F, Sanghavi D, Kondurkar P, Patil S, Idicula-Thomas S, Gupta S, Sheth J., Free PMC Article | 12/22/2012 |
| identified 27 different mutations, 14 of which were novel, in the HEXA gene and 14 different mutations, 8 of which unreported until now, in the HEXB gene, and attempted to correlate these mutations with the clinical presentation of the patients | GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
Gort L, de Olano N, Macías-Vidal J, Coll MA, Spanish GM2 Working Group. | 10/27/2012 |
| MtsD, MtsF and MtsH are fusion proteins with a methyltransferase domain and a corrinoid-binding domain. | Regulation of putative methyl-sulphide methyltransferases in Methanosarcina acetivorans C2A.
Bose A, Kulkarni G, Metcalf WW. | 08/20/2012 |
| HEXA gene in Argentinean patients affected with Tay-Sachs disease, overall 14 different mutations were identified, 8 of them were novel and lead to premature stop codons, drastic residues changes or a splicing defect. | Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
Zampieri S, Montalvo A, Blanco M, Zanin I, Amartino H, Vlahovicek K, Szlago M, Schenone A, Pittis G, Bembi B, Dardis A. | 07/14/2012 |
| Beta-hexosaminidase over-expression affects lysosomal glycohydrolases expression and glycosphingolipid metabolism in mammalian cells. | Β-hexosaminidase over-expression affects lysosomal glycohydrolases expression and glycosphingolipid metabolism in mammalian cells.
Tancini B, Magini A, Bortot B, Polchi A, Urbanelli L, Sonnino S, Severini GM, Emiliani C. | 07/7/2012 |
| We report the first Jordanian Arab Tay-Sachs disease patient diagnosed by deficient beta-hexosaminidase A activity, mutation analysis revealed homozygosity for a nonsense HEXA mutation, c.78G>A (p.W26X) | Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.
Haghighi A, Masri A, Kornreich R, Desnick RJ. | 03/17/2012 |
| Two mutations were identified c.1A>G (p.MIV), which obliterated the initiating methionine in codon 1, and c.1177C>T (p.R393X), which predicted a termination codon or nonsense mutation in infantile Tay-Sachs diseae in the Persian population. | Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
Haghighi A, Rezazadeh J, Shadmehri AA, Haghighi A, Kornreich R, Desnick RJ. | 03/10/2012 |
| Down-regulation of beta-N-acetyl-D-glucosaminidase increases Akt1 activity in thyroid anaplastic cancer cells | Down-regulation of β-N-acetyl-D-glucosaminidase increases Akt1 activity in thyroid anaplastic cancer cells.
Krześlak A, Jóźwiak P, Lipińska A. | 10/29/2011 |
| Urinary NAG (ninefold), NGAL (1.5-fold), and H-FABP (3.5-fold) were significantly elevated in normoalbuminuric diabetic patients compared with nondiabetic control subjects. | Glomerular and tubular damage markers are elevated in patients with diabetes.
Nauta FL, Boertien WE, Bakker SJ, van Goor H, van Oeveren W, de Jong PE, Bilo H, Gansevoort RT., Free PMC Article | 07/16/2011 |
| Detected mutations in the HEXA gene through gene sequencing and, by combining the HEXA enzyme assay and the HEXA gene sequencing assay, were able to clarify Tay Sachs carrier status. | 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.
Park NJ, Morgan C, Sharma R, Li Y, Lobo RM, Redman JB, Salazar D, Sun W, Neidich JA, Strom CM. | 03/1/2010 |