Richard M.M., Erenberg G., Triggs-Raine B.L.

Biochem. Mol. Med. 55:74-76(1995) GAD 139610 · Mapped (8)
Associated with METABOLIC: Tay-Sachs disease; GAD 139610

Navon R., Khosravi R., Korczyn T., Masson M., Sonnino S., Fardeau M., Eymard B., Lefevre N., Turpin J.C., Rondot P.

Neurology 45:539-543(1995) GAD 139609 · UniProtKB (1) · Mapped (7)
Associated with OTHER: spinal muscular atrophy phenotype; GAD 139609

Cao Z., Natowicz M.R., Kaback M.M., Lim-Steele J.S.T., Prence E.M., Brown D., Chabot T., Triggs-Raine B.L.

Am. J. Hum. Genet. 53:1198-1205(1993) GAD 139611 · UniProtKB (1) · Mapped (7)
Associated with OTHER: apparent beta-hexosaminidase A pseudodeficiency; GAD 139611

Petroulakis E., Cao Z., Clarke J.T.R., Mahuran D.J., Lee G., Triggs-Raine B.

Hum. Mutat. 11:432-442(1998) GAD 139613 · UniProtKB (1) · Mapped (7)
Associated with OTHER: subacute G(M2) gangliosidosis; GAD 139613

Bach G., Tomczak J., Risch N., Ekstein J.

Am. J. Med. Genet. 99:70-75(2001) GeneRIF 3073 · Mapped (8)
Observational study of genetic testing. (HuGE Navigator) GeneRIF 3073

Peleg L., Karpati M., Baram L., Zolotkovski O., Goldman B.

Hum. Mutat. 17:157-157(2001) GeneRIF 3073 · Mapped (8)
Observational study of genotype prevalence. (HuGE Navigator) GeneRIF 3073

McGinniss M.J., Brown D.H., Fulwiler A., Marten M., Lim-Steele J.S., Kaback M.M.

Genet. Med. 4:158-161(2002) GeneRIF 3073 · Mapped (8)
Eight novel mutations GeneRIF 3073

Casal J.A., Mera A., Perez L.F., Tutor J.C.

Clin. Biochem. 35:483-488(2002) GeneRIF 3073 · Mapped (10)
plasma activity of total Hex does not appear to be a reliable marker of erosion and cartilage degradation in rheumatoid arthritis patients; liver function appears to be the major determinant for the plasma Hex activity in these patients GeneRIF 3073

Karpati M., Gazit E., Goldman B., Frisch A., Colombo R., Peleg L.

Neurogenetics 5:35-40(2004) GeneRIF 3073 · Mapped (8)
second novel HEXA mutation specific to the IJ TDS carriers: a substitution of cytosine 1351 by guanosine (C1351G) resulting in the change of leucine to valine in position 451. GeneRIF 3073

Frisch A., Colombo R., Michaelovsky E., Karpati M., Goldman B., Peleg L.

Hum. Genet. 114:366-376(2004) GeneRIF 3073 · Mapped (8)
the founder effect in a rapidly expanding population arising from a bottleneck provides a robust parsimonious hypothesis explaining the spread of 1278insTATC-linked TSD in Ashkenazi Jews GeneRIF 3073

Branda K.J., Tomczak J., Natowicz M.R.

Genet. Test. 8:174-180(2004) GeneRIF 3073 · Mapped (8)
Observational study of genotype prevalence. (HuGE Navigator) GeneRIF 3073

Arfi A., Bourgoin C., Basso L., Emiliani C., Tancini B., Chigorno V., Li Y.T., Orlacchio A., Poenaru L., Sonnino S. et al.

Neurobiol. Dis. 20:583-593(2005) GeneRIF 3073 · Mapped (10)
Therefore our bicistronic lentivector supplying both alpha- and beta-subunits of beta-hexosaminidases may provide a potential therapeutic tool for the treatment of Sandhoff disease. GeneRIF 3073

Montalvo A.L., Filocamo M., Vlahovicek K., Dardis A., Lualdi S., Corsolini F., Bembi B., Pittis M.G.

Hum. Mutat. 26:282-282(2005) GeneRIF 3073 · Mapped (8)
analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease GeneRIF 3073

Mencarelli S., Cavalieri C., Magini A., Tancini B., Basso L., Lemansky P., Hasilik A., Li Y.T., Chigorno V., Orlacchio A. et al.

FEBS Lett. 579:5501-5506(2005) GeneRIF 3073 · Mapped (8)
The plasma membrane associated beta-hexosaminidase A is fully processed suggesting its lysosomal origin. GeneRIF 3073

Lemieux M.J., Mark B.L., Cherney M.M., Withers S.G., Mahuran D.J., James M.N.

J. Mol. Biol. 359:913-929(2006) GeneRIF 3073 · Mapped (9)
the X-ray crystallographic structure of Hex A to 2.8 A resolution. The crystal structure of Hex A reveals an alphabeta heterodimer with each subunit having a functional active site GeneRIF 3073

Wielgat P., Walczuk U., Szajda S., Bien M., Zimnoch L., Mariak Z., Zwierz K.

J. Neurooncol. 80:243-249(2006) GeneRIF 3073 · Mapped (10)
The highest activities of exoglycosidases were observed in high-grade gliomas and a positive correlation of enzyme activities and degree of malignancy was noted. GeneRIF 3073

Tassi C., Angelini A., Beccari T., Capodicasa E.

Clin. Chem. Lab. Med. 44:843-847(2006) GeneRIF 3073 · Mapped (8)
isoenzyme composition of N-acetyl-beta-D-hexosaminidase in seminal plasma from patients with secretory azoospermia is significantly different from controls but this difference does not represent a useful marker of secretory azoospermia GeneRIF 3073

Knas M., Choromanska M., Karaszewska K., Dudzik D., Waszkiel D., Borzym-Kluczyk M., Zaniewska A., Zwierz K.

Adv Med Sci 52:186-190(2007) GeneRIF 3073 · Mapped (23)
following HIV infection there is an increased rate of catabolism of glycoconjugates in saliva resulting from changes in the proportions of the activity of isoenzymes A and B of N-acetyl-beta-hexosaminidase beta-galactosidase and alpha-fucosidase GeneRIF 3073

Guetta E., Peleg L.

Methods Mol. Biol. 444:147-159(2008) GeneRIF 3073 · Mapped (8)
Describe strategy for detecting HexA mutations/activity in prenatal diagnosis of Tay-Sachs disease. GeneRIF 3073

Ohno K., Saito S., Sugawara K., Sakuraba H.

Mol. Genet. Metab. 94:462-468(2008) GeneRIF 3073 · Mapped (8)
In the infantile Tay-Sachs group the number of atoms influenced by a mutation was larger than that in the late-onset disease group. GeneRIF 3073

Olszewska E., Borzym-Kluczyk M., Rzewnicki I., Rutkowska J., Knas M., Rogowski M., Waniewska E., Wielgosz R.

Clin. Biochem. 42:1187-1189(2009) GeneRIF 3073 · Mapped (8)
A significantly higher activity of N-acetyl-beta-D-hexosaminidase in all laryngeal cancer specimens compared with that in healthy tissue homogenates was observed. GeneRIF 3073