| Cysteine proteases bleomycin hydrolase and cathepsin Z mediate N-terminal proteolysis and toxicity of mutant huntingtin. Ratovitski T., Chighladze E., Waldron E., Hirschhorn R.R., Ross C.A.
J. Biol. Chem. 286:12578-12589(2011) · Mapped (8) |
| Mutant huntingtin N-terminal fragments of specific size mediate aggregation and toxicity in neuronal cells. Ratovitski T., Gucek M., Jiang H., Chighladze E., Waldron E., D'Ambola J., Hou Z., Liang Y., Poirier M.A., Hirschhorn R.R. et al.
J. Biol. Chem. 284:10855-10867(2009) · Mapped (4) |
| Huntingtin phosphorylation sites mapped by mass spectrometry. Modulation of cleavage and toxicity. Schilling B., Gafni J., Torcassi C., Cong X., Row R.H., LaFevre-Bernt M.A., Cusack M.P., Ratovitski T., Hirschhorn R., Ross C.A. et al.
J. Biol. Chem. 281:23686-23697(2006) · Mapped (4) |
| Computer assisted cloning of human neutral alpha glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31. Hirschhorn R., Huie M.L., Kasper J.S.
Proc. Natl. Acad. Sci. U.S.A. 99:13642-13646(2002) · UniProtKB (1) · Mapped (2) |
| Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II. Huie M.L., Anyane-Yeboa K., Guzman E., Hirschhorn R.
Am. J. Hum. Genet. 70:1054-1057(2002) · Mapped (2) |
| Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). Fernandez-Hojas R., Huie M.L., Navarro C., Dominguez C., Roig M., Lopez-Coronas D., Teijeira S., Anyane-Yeboa K., Hirschhorn R.
Neuromuscul. Disord. 12:159-166(2002) · UniProtKB (1) |
| Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation. Ponce E., Witte D.P., Hirschhorn R., Huie M.L., Grabowski G.A.
Am. J. Pathol. 154:1089-1096(1999) · Mapped (5) |
| Novel mutations in African American patients with glycogen storage disease Type II. Raben N., Lee E., Lee L., Hirschhorn R., Plotz P.H.
Hum. Mutat. 13:83-84(1999) · UniProtKB (1) |
| Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. Huie M.L., Tsujino S., Brooks S.S., Engel A., Elias E., Bonthron D.T., Bessley C., Shanske S., Dimauro S., Goto Y. et al.
Biochem. Biophys. Res. Commun. 244:921-927(1998) · UniProtKB (1) |
| An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity. Jiang C., Hong R., Horowitz S.D., Kong X., Hirschhorn R.
Hum. Mol. Genet. 6:2271-2278(1997) |
| Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes. Hirschhorn R., Borkowsky W., Jiang C.-K., Yang D.R., Jenkins T.
Hum. Genet. 100:22-29(1997) · UniProtKB (1) |
| Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4). Huie M.L., Menaker M., McAlpine P.J., Hirschhorn R.
Ann. Hum. Genet. 60:365-368(1996) · UniProtKB (1) |
| Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID). Yang D.R., Huie M.L., Hirschhorn R.
Clin. Immunol. Immunopathol. 70:171-175(1994) · UniProtKB (1) |
| An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover. Hirschhorn R., Yang D.R., Israni A.
Ann. Hum. Genet. 58:1-9(1994) · UniProtKB (1) |
| A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). Huie M.L., Chen A.S., Brooks S.S., Grix A., Hirschhorn R.
Hum. Mol. Genet. 3:1081-1087(1994) · UniProtKB (1) |
| Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease). Huie M.L., Hirschhorn R., Chen A.S., Martiniuk F., Zhong N.
Hum. Mutat. 4:291-293(1994) · UniProtKB (1) |
| Identity of neutral alpha-glucosidase AB and the glycoprotein processing enzyme glucosidase II. Biochemical and genetic studies. Martiniuk F., Ellenbogen A., Hirschhorn R.
J. Biol. Chem. 260:1238-1242(1985) · UniProtKB (1) |
| Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients. Martiniuk F., Mehler M., Pellicer A., Tzall S., La Badie G., Hobart C., Ellenbogen A., Hirschhorn R.
Proc. Natl. Acad. Sci. U.S.A. 83:9641-9644(1986) · Mapped (5) |
| Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. Hirschhorn R., Tzall S., Ellenbogen A., Orkin S.H.
J. Clin. Invest. 83:497-501(1989) · UniProtKB (1) |
| Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells. Martiniuk F., Bodkin M., Tzall S., Hirschhorn R.
Am. J. Hum. Genet. 47:440-445(1990) · UniProtKB (1) |
| Hot spot mutations in adenosine deaminase deficiency. Hirschhorn R., Tzall S., Ellenbogen A.
Proc. Natl. Acad. Sci. U.S.A. 87:6171-6175(1990) · UniProtKB (1) |
| The growth-regulated gene 1B6 is identified as the heavy chain of calpactin I. Keutzer J.C., Hirschhorn R.R.
Exp. Cell Res. 188:153-159(1990) · UniProtKB (1) |
| Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. Martiniuk F., Mehler M., Tzall S., Meredith G., Hirschhorn R.
DNA Cell Biol. 9:85-94(1990) · UniProtKB (1) |
| Linkage of acid alpha-glucosidase (Gaa) and thymidine kinase (Tk-1) to esterase-3 (Es-3) on mouse chromosome 11. Martiniuk F., Hirschhorn R., D'Eustachio P.
Mamm. Genome 1:267-269(1991) · Mapped (11) |
| Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele. Martiniuk F., Mehler M., Bodkin M., Tzall S., Hirschhorn K., Zhong N., Hirschhorn R.
DNA Cell Biol. 10:681-687(1991) · UniProtKB (1) |
