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Literature citations Results

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Muschol N., Storch S., Ballhausen D., Beesley C., Westermann J.-C., Gal A., Ullrich K., Hopwood J.J., Winchester B., Braulke T.

Hum. Mutat. 23:559-566(2004) · UniProtKB (1) · Mapped (5)

Structure of a human lysosomal sulfatase.

Bond C.S., Clements P.R., Ashby S.J., Collyer C.A., Harrop S.J., Hopwood J.J., Guss J.M.

Structure 5:277-289(1997) · UniProtKB (1)

Structure and sequence of the human alpha-L-iduronidase gene.

Scott H.S., Guo X.H., Hopwood J.J., Morris C.P.

Genomics 13:1311-1313(1992) · UniProtKB (1)

Sequence of the human iduronate 2-sulfatase (IDS) gene.

Wilson P.J., Meaney C.A., Hopwood J.J., Morris C.P.

Genomics 17:773-775(1993) · UniProtKB (1)

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.

Weber B., Guo X.-H., Kleijer W.J., van de Kamp J.J.P., Poorthuis B.J.H.M., Hopwood J.J.

Eur. J. Hum. Genet. 7:34-44(1999) · UniProtKB (1)

Sanfilippo syndrome in Turkey: identification of novel mutations in subtypes A and B.

Emre S., Terzioglu M., Tokatli A., Coskun T., Ozalp I., Weber B., Hopwood J.J.

Hum. Mutat. 19:184-185(2002) · UniProtKB (2) · Mapped (10)

Reduction in open field activity in the absence of memory deficits in the AppNL-G-F knock-in mouse model of Alzheimer's disease.

Whyte L.S., Hemsley K.M., Lau A.A., Hassiotis S., Saito T., Saido T.C., Hopwood J.J., Sargeant T.J.

Behav. Brain Res. 336:177-181(2018) · Mapped (11)

Purification and characterization of recombinant murine sulfamidase.

Gliddon B.L., Yogalingam G., Hopwood J.J.

Mol. Genet. Metab. 83:239-245(2004) · Mapped (8)

Purification and characterization of recombinant human lysosomal alpha-mannosidase.

Berg T., King B., Meikle P.J., Nilssen O, Tollersrud O.K., Hopwood J.J.

Mol. Genet. Metab. 73:18-29(2001) · Mapped (1)

PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene.

Scott H.S., Litjens T., Hopwood J.J., Morris C.P.

Hum. Genet. 90:327-327(1992) · UniProtKB (1)

Open field locomotor activity and anxiety-related behaviors in mucopolysaccharidosis type IIIA mice.

Lau A.A., Crawley A.C., Hopwood J.J., Hemsley K.M.

Behav. Brain Res. 191:130-136(2008) · Mapped (8)

Novel mutations in Sanfilippo A syndrome: implications for enzyme function.

Weber B., Guo X.-H., Wraith J.E., Cooper A., Kleijer W.J., Bunge S., Hopwood J.J.

Hum. Mol. Genet. 6:1573-1579(1997) · UniProtKB (1)

Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA.

Webber D.L., Choo A., Hewson L.J., Trim P.J., Snel M.F., Hopwood J.J., Richards R.I., Hemsley K.M., O'Keefe L.V.

Exp. Neurol. 303:38-47(2018) · Mapped (17)

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.

Karageorgos L., Harmatz P., Simon J., Pollard A., Clements P.R., Brooks D.A., Hopwood J.J.

Hum. Mutat. 23:229-233(2004) · UniProtKB (1) · Mapped (2)

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Karageorgos L., Brooks D.A., Pollard A., Melville E.L., Hein L.K., Clements P.R., Ketteridge D., Swiedler S.J., Beck M., Giugliani R. et al.

Hum. Mutat. 28:897-903(2007) · Mapped (3)

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).

Bunge S., Steglich C., Beck M., Rosenkranz W., Schwinger E., Hopwood J.J., Gal A.

Hum. Mol. Genet. 1:335-339(1992) · UniProtKB (1)

Mutation analysis of Jewish Hunter patients in Israel.

Ben-Simon-Schiff E., Bach G., Hopwood J.J., Abeliovich D.

Hum. Mutat. 4:263-270(1994) · UniProtKB (1)

Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.

Clarke L.A., Nelson P.V., Warrington C.L., Morris C.P., Hopwood J.J., Scott H.S.

Hum. Mutat. 3:275-282(1994) · UniProtKB (1)

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype.

Scott H.S., Nelson P.V., Litjens T., Hopwood J.J., Morris C.P.

Hum. Mol. Genet. 2:1471-1473(1993) · UniProtKB (1)

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

Isbrandt D., Arlt G., Brooks D.A., Hopwood J.J., von Figura K., Peters C.

Am. J. Hum. Genet. 54:454-463(1994) · UniProtKB (1)

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.

Wicker G., Prill V., Brooks D.A., Gibson G.J., Hopwood J.J., von Figura K., Peters C.

J. Biol. Chem. 266:21386-21391(1991) · UniProtKB (1)

Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.

Litjens T., Hopwood J.J.

Hum. Mutat. 18:282-295(2001) · Mapped (3)

Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient.

Yogalingam G., Weber B., Meehan J., Rogers J., Hopwood J.J.

Biochim. Biophys. Acta 1502:415-425(2000) · UniProtKB (1)

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

Bunge S., Kleijer W.J., Steglich C., Beck M., Zuther C., Morris C.P., Schwinger E., Hopwood J.J., Scott H.S., Gal A.

Hum. Mol. Genet. 3:861-866(1994) · UniProtKB (1)

Mouse sulphamidase gene: characterization of the promoter region of the gene and expression in mouse tissues.

Costanzi E., Beccari T., Aisa M.C., Tiribuzi R., Hopwood J.J., Orlacchio A.

Gene 310:143-149(2003) · UniProtKB (1) · Mapped (7)

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