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HEXA Entrez Gene digest
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GeneRIFs
Hexosaminidase A (alpha polypeptide)
Entrez Gene GeneRIFs are recent publications from the PubMed® catalog that contain relevant information about HEXA.
Arfi A, Bourgoin C, Basso L, Emiliani C, Tancini B, Chigorno V, Li YT, Orlacchio A, Poenaru L, Sonnino S, Caillaud C. Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts. Neurobiol Dis. 2005 Nov;20(2):583-93. Epub 2005 Jun 13.
PubMed citation
Bach G, Tomczak J, Risch N, Ekstein J. Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure. Am J Med Genet. 2001 Feb 15;99(1):70-5.
PubMed citation
Branda KJ, Tomczak J, Natowicz MR. Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy. Genet Test. 2004 Summer;8(2):174-80.
PubMed citation
Casal JA, Mera A, Pérez LF, Tutor JC. Plasma and peripheral leukocyte beta-N-acetylhexosaminidase isoenzymes and disease activity in rheumatoid arthritis. Clin Biochem. 2002 Sep;35(6):483-8.
PubMed citation
Frisch A, Colombo R, Michaelovsky E, Karpati M, Goldman B, Peleg L. Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis. Hum Genet. 2004 Mar;114(4):366-76. Epub 2004 Jan 15.
PubMed citation
Guetta E, Peleg L. Rapid detection of fetal Mendelian disorders: Tay-Sachs disease. Methods Mol Biol. 2008;444:147-59.
PubMed citation
Karpati M, Gazit E, Goldman B, Frisch A, Colombo R, Peleg L. Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor. Neurogenetics. 2004 Feb;5(1):35-40. Epub 2003 Nov 27.
PubMed citation
Knaś M, Choromańska M, Karaszewska K, Dudzik D, Waszkiel D, Borzym-Kluczyk M, Zaniewska A, Zwierz K. Activity of lysosomal exoglycosidases in saliva of patients with HIV infection. Adv Med Sci. 2007;52:186-90.
PubMed citation
Lemieux MJ, Mark BL, Cherney MM, Withers SG, Mahuran DJ, James MN. Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis. J Mol Biol. 2006 Jun 16;359(4):913-29. Epub 2006 Apr 27.
PubMed citation
McGinniss MJ, Brown DH, Fulwiler A, Marten M, Lim-Steele JS, Kaback MM. Eight novel mutations in the HEXA gene. Genet Med. 2002 May-Jun;4(3):158-61.
PubMed citation
Mencarelli S, Cavalieri C, Magini A, Tancini B, Basso L, Lemansky P, Hasilik A, Li YT, Chigorno V, Orlacchio A, Emiliani C, Sonnino S. Identification of plasma membrane associated mature beta-hexosaminidase A, active towards GM2 ganglioside, in human fibroblasts. FEBS Lett. 2005 Oct 24;579(25):5501-6. Epub 2005 Sep 27.
PubMed citation
Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG. Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. Hum Mutat. 2005 Sep;26(3):282.
PubMed citation
Ohno K, Saito S, Sugawara K, Sakuraba H. Structural consequences of amino acid substitutions causing Tay-Sachs disease. Mol Genet Metab. 2008 Aug;94(4):462-8. Epub 2008 May 19.
PubMed citation
Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE. A human protein-protein interaction network: a resource for annotating the proteome. Cell. 2005 Sep 23;122(6):957-68.
PubMed citation
Tassi C, Angelini A, Beccari T, Capodicasa E. Fluorimetric determination of activity and isoenzyme composition of N-acetyl-beta-D-hexosaminidase in seminal plasma of fertile men and infertile patients with secretory azoospermia. Clin Chem Lab Med. 2006;44(7):843-7.
PubMed citation
Wielgat P, Walczuk U, Szajda S, Bień M, Zimnoch L, Mariak Z, Zwierz K. Activity of lysosomal exoglycosidases in human gliomas. J Neurooncol. 2006 Dec;80(3):243-9. Epub 2006 May 19.
PubMed citation
Yadao F, Hechtman P, Kaplan F. Formation of a ternary complex between GM2 activator protein, GM2 ganglioside and hexosaminidase A. Biochim Biophys Acta. 1997 Jun 20;1340(1):45-52.
PubMed citation
Yadao F, Hechtman P, Kaplan F. Formation of a ternary complex between GM2 activator protein, GM2 ganglioside and hexosaminidase A. Biochim Biophys Acta. 1997 Jun 20;1340(1):45-52.
PubMed citation
Published: February 6, 2009