| 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 |
| Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients. | Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
Tim-Aroon T, Wichajarn K, Katanyuwong K, Tanpaiboon P, Vatanavicharn N, Sakpichaisakul K, Kongkrapan A, Eu-Ahsunthornwattana J, Thongpradit S, Moolsuwan K, Satproedprai N, Mahasirimongkol S, Lerksuthirat T, Suktitipat B, Jinawath N, Wattanasirichaigoon D., Free PMC Article | 07/10/2021 |
| 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 |
| Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature. | Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.
Liu M, Huang D, Wang H, Zhao L, Wang Q, Chen X. | 12/5/2020 |
| identified a homozygous splice site variant (NM_000521:c.445 + 1G > T) in the hexosaminidase B (HEXB) gene confirming a diagnosis of Sandhoff disease (SD; type II GM2-gangliosidosis), an autosomal recessive lysosomal storage disorder caused by deficiency of hexosaminidases in a single family | Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
Khan S, Rawlins LE, Harlalka GV, Umair M, Ullah A, Shahzad S, Javed M, Baple EL, Crosby AH, Ahmad W, Gul A., Free PMC Article | 02/15/2020 |
| Direct sequencing of HEXA and HEXB genes showed recurrent homozygous variants at c.509G>A (p.Arg170Gln) and c.850C>T (p.Arg284Ter) in gangliosidosis, respectively | Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
Mahdieh N, Mikaeeli S, Tavasoli AR, Rezaei Z, Maleki M, Rabbani B. | 07/13/2019 |
| 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 |
| a modified human hexosaminidase subunit beta (HexB), which we have termed mod2B, composed of homodimeric beta subunits that contain amino acid sequences from the alpha subunit that confer GM2 ganglioside-degrading activity and protease resistance. | Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model.
Kitakaze K, Mizutani Y, Sugiyama E, Tasaki C, Tsuji D, Maita N, Hirokawa T, Asanuma D, Kamiya M, Sato K, Setou M, Urano Y, Togawa T, Otaka A, Sakuraba H, Itoh K., Free PMC Article | 09/2/2017 |
| Mutations of the HEXB gene is associated with maple syrup urine disease or Sandhoff disease. | Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.
Abiri M, Talebi S, Uitto J, Youssefian L, Vahidnezhad H, Shirzad T, Salehpour S, Zeinali S. | 04/29/2017 |
| report on the heterogeneity of the mutational spectrum of the HEXB gene in Indian patients with Sandhoff disease | Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.
Tamhankar PM, Mistri M, Kondurkar P, Sanghavi D, Sheth J. | 02/18/2017 |
| The absence of beta-N-acetyl-hexosaminidase activity does not alter the differentiation of i-DCs from HSCs, but it is critical for the activation of CD4(+)T cells because knock-down of HEXA or HEXB gene causes a loss of function of i-DCs. | 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 |
| Concentration and specific activity of N-acetyl-B-hexosaminidase in palatine tonsils in patients with tonsillar hypertrophy and chronic tonsillitis both in childhood and adulthood significantly increase in comparison to healthy individuals. | N-acetyl-β-hexosaminidase in chronic tonsillitis and tonsillar hypertrophy.
Zagor M, Minarowska A, Knaś M, Krajewska K, Niemcunowicz-Janica A, Marciniak J, Bierć M, Zaniewska A, Minarowski L, Jackowska A, Jackowski T, Zwierz K, Szajda S. | 04/18/2015 |
| A total of 19 HEXB variants were found in the 1092 genomes of which 5 are suspected of having a deleterious effect on hexosaminidase activity. | 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, Hall P, Antonishyn N, Desikan R, Gelb M, Lehotay D., Free PMC Article | 02/14/2015 |
| DNA from Iranian Tay-Sachs patients reveals a novel mutation in HEXB predicting a termination codon or nonsense mutation. | 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 |
| A patient with Sandhoff disease also is found to have a compound macro-deletion in HEXB. | Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.
Rattay TW, Schöls L, Wilhelm C, Synofzik M. | 06/28/2014 |
| GM2 gangliosidosis is caused by the gene mutation. (review) | [Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].
Tsuji D. | 04/5/2014 |
| A highly significant correlation of HEX-7 and %CDT has been found. Because of exclusion of the P isoform, HEX-7 could be a useful supplementary marker for detecting chronic alcohol abuse. | Microheterogeneity of serum β-hexosaminidase in chronic alcohol abusers in a driver's license regranting program.
Maenhout TM, Poll A, Wuyts B, Lecocq E, Van Vlierberghe H, De Buyzere ML, Delanghe JR. | 01/25/2014 |
| Expression of beta-hexosaminidase in the neurons of Sandhoff disease patients rescues transgenic mice from neurodegeneration. | Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.
Kyrkanides S, Brouxhon SM, Tallents RH, Miller JN, Olschowka JA, O'Banion MK., Free PMC Article | 06/22/2013 |
| minigene studies revealed the presence of a novel alternative spliced HEXB mRNA variant also present in normal cells | Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenco CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, de Kremer RD, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A., Free PMC Article | 03/16/2013 |
| Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. | Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
Gaignard P, Fagart J, Niemir N, Puech JP, Azouguene E, Dussau J, Caillaud C. | 02/2/2013 |
| 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 |
| We describe a novel HEXB mutation that is shared among 4 patients with Sandhoff disease. | A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.
Fitterer BB, Antonishyn NA, Hall PL, Lehotay DC. | 10/13/2012 |
| The non-random distribution of plasma membrane-associated beta-hexosaminidase and beta-galactosidase and their localization within lipid microdomains, suggest a role of these enzymes in the local reorganization of glycosphingolipid-based signalling units. | Glycohydrolases β-hexosaminidase and β-galactosidase are associated with lipid microdomains of Jurkat T-lymphocytes.
Magini A, Polchi A, Tancini B, Urbanelli L, Hasilik A, Emiliani C. | 06/9/2012 |
| Plasma beta-hexosaminidase and beta-galactosidase) levels are higher in patients with Alzheimer's disease-type 2 diabetes mellitus (T2DM) compared to those with T2DM alone. | Lysosomal β-galactosidase and β-hexosaminidase activities correlate with clinical stages of dementia associated with Alzheimer's disease and type 2 diabetes mellitus.
Tiribuzi R, Orlacchio A, Crispoltoni L, Maiotti M, Zampolini M, De Angeliz M, Mecocci P, Cecchetti R, Bernardi G, Datti A, Martino S, Orlacchio A. | 02/11/2012 |
| 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 |