about
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IXLong-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonatesCrystallographic evidence for substrate-assisted catalysis in a bacterial beta-hexosaminidaseDiverse diseases from a ubiquitous process: the ribosomopathy paradoxCharacterization of the murine hyaluronidase gene region reveals complex organization and cotranscription of Hyal1 with downstream genes, Fus2 and Hyal3Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish backgroundAcidic hyaluronidase activity is present in mouse sperm and is reduced in the absence of SPAM1: evidence for a role for hyaluronidase 3 in mouse and human spermGrowth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression.Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.Serum lipids, plant sterols, and cholesterol kinetic responses to plant sterol supplementation in phytosterolemia heterozygotes and control individuals.GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndromeMutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and MiceCloning and physical characterization of katE and katF required for catalase HPII expression in Escherichia coli.Hyaluronidase 2 Deficiency Causes Increased Mesenchymal Cells, Congenital Heart Defects, and Heart Failure.Genotype-phenotype pitfalls in Gaucher disease.Increase of a group of PTC(+) transcripts by curcumin through inhibition of the NMD pathway.Mutation of EMG1 causing Bowen-Conradi syndrome results in reduced cell proliferation rates concomitant with G2/M arrest and 18S rRNA processing delay.Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites.Murine hyaluronidase 2 deficiency results in extracellular hyaluronan accumulation and severe cardiopulmonary dysfunctionThe C. elegans hyaluronidase: a developmentally significant enzyme with chondroitin-degrading activity at both acidic and neutral pH.Prenatal exclusion of Tay-Sachs disease by DNA analysis.An Alu1- polymorphism in the HEXA gene is common in Ashkenazi and Sephardic Jews, Israeli Arabs, and French Canadians of Quebec and northern New England.A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test.Hyaluronidase 3 (HYAL3) knockout mice do not display evidence of hyaluronan accumulation.A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.Structural and functional characterization of Streptomyces plicatus beta-N-acetylhexosaminidase by comparative molecular modeling and site-directed mutagenesis.Structural organization, sequence, and expression of the mouse HEXA gene encoding the alpha subunit of hexosaminidase A.Hyaluronidase 2 (HYAL2) is expressed in endothelial cells, as well as some specialized epithelial cells, and is required for normal hyaluronan catabolism.Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene.Hyal-1 but not Hyal-3 deficiency has an impact on ovarian folliculogenesis and female fertility by altering the follistatin/activin/Smad3 pathway and the apoptotic process.The natural history of phytosterolemia: Observations on its homeostasis.Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.Physical characterization of katG, encoding catalase HPI of Escherichia coli.Catalases HPI and HPII in Escherichia coli are induced independently.Hyaluronidase 2 deficiency is a molecular cause of cor triatriatum sinister in miceGPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough SyndromeA complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritisA locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3BenignHEXAMutations, C739T(R247W) and C745T(R249W), Cause β-Hexosaminidase A Pseudodeficiency by Reducing the α-Subunit Protein Levels
P50
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Barbara Triggs-Raine
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