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1988 1
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21 results

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Page 1
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS. Patel N, et al. Genet Med. 2016 Jun;18(6):554-62. doi: 10.1038/gim.2015.127. Epub 2015 Sep 10. Genet Med. 2016. PMID: 26355662 Free article.
We also performed exome sequencing on negative syndromic RD cases and identified a novel homozygous truncating mutation in GNS in a family with the novel combination of mucopolysaccharidosis and RD. Moreover, we identified a homozygous truncating mutation in DNAJC17 …
We also performed exome sequencing on negative syndromic RD cases and identified a novel homozygous truncating mutation in GNS in a f …
Glycosaminoglycans and mucopolysaccharidosis type III.
Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G. Jakobkiewicz-Banecka J, et al. Front Biosci (Landmark Ed). 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463. Front Biosci (Landmark Ed). 2016. PMID: 27100513 Free article. Review.
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfu …
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumula …
How close are we to therapies for Sanfilippo disease?
Gaffke L, Pierzynowska K, Piotrowska E, Węgrzyn G. Gaffke L, et al. Metab Brain Dis. 2018 Feb;33(1):1-10. doi: 10.1007/s11011-017-0111-4. Epub 2017 Sep 18. Metab Brain Dis. 2018. PMID: 28921412 Free PMC article. Review.
In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D subtypes are located in genes coding for heparan N-sulfatase (the SGSH gene), alpha-N-acetylglucosaminidase (the NAGLU gene), acetyl-CoA:alpha-glucosaminide acetyl …
In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D subtypes are located in …
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.
Mok A, Cao H, Hegele RA. Mok A, et al. Genomics. 2003 Jan;81(1):1-5. doi: 10.1016/s0888-7543(02)00014-9. Genomics. 2003. PMID: 12573255
Mucopolysaccharidosis type IIID (MPS IIID; Sanfilippo syndrome type D; MIM 252940) is caused by deficiency of the activity of N-acetylglucosamine-6-sulfatase (GNS), which is normally required for degradation of heparan sulfate. ...To date …
Mucopolysaccharidosis type IIID (MPS IIID; Sanfilippo syndrome type D; MIM 252940) is caused by deficiency of the activity of N …
Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase.
Robertson DA, Freeman C, Nelson PV, Morris CP, Hopwood JJ. Robertson DA, et al. Biochem Biophys Res Commun. 1988 Nov 30;157(1):218-24. doi: 10.1016/s0006-291x(88)80035-4. Biochem Biophys Res Commun. 1988. PMID: 3196333
Glucosamine-6-sulfatase is a lysosomal enzyme which degrades glycosaminoglycans and is deficient in mucopolysaccharidosis type IIID. Human liver contains two major active forms of glucosamine-6-sulfatase, form A which has a single …
Glucosamine-6-sulfatase is a lysosomal enzyme which degrades glycosaminoglycans and is deficient in mucopolysacchari …
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.
Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De Meirleir L, Lissens W, Liebaers I, Veilleux M, Andermann F, Hegele RA, Andermann E. Jansen AC, et al. Arch Neurol. 2007 Nov;64(11):1629-34. doi: 10.1001/archneur.64.11.1629. Arch Neurol. 2007. PMID: 17998446
BACKGROUND: Mucopolysaccharidosis type IIID (MPS-IIID), or Sanfilippo syndrome type D, is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylglucosamine-6-sulfatase (GNS) gene, leading to impaired deg …
BACKGROUND: Mucopolysaccharidosis type IIID (MPS-IIID), or Sanfilippo syndrome type D, is a rare autosomal recessive lysosomal storag …
Cloning and sequence analysis of caprine N-acetylglucosamine 6-sulfatase cDNA.
Friderici K, Cavanagh KT, Leipprandt JR, Traviss CE, Anson DS, Hopwood JJ, Jones MZ. Friderici K, et al. Biochim Biophys Acta. 1995 Jun 9;1271(2-3):369-73. doi: 10.1016/0925-4439(95)00054-8. Biochim Biophys Acta. 1995. PMID: 7605804 Free article.
Mucopolysaccharidosis IIID results from the deficiency of N-acetylglucosamine 6-sulfatase activity. ...As a first step in developing this animal model for testing treatment methods, we cloned and sequenced the caprine N-acetylglucosami …
Mucopolysaccharidosis IIID results from the deficiency of N-acetylglucosamine 6-sulfatase activity. ...As …
Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.
Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, et al. Tomatsu S, et al. Biochem Biophys Res Commun. 1991 Dec 16;181(2):677-83. doi: 10.1016/0006-291x(91)91244-7. Biochem Biophys Res Commun. 1991. PMID: 1755850
The amino acid sequence of N-acetylgalactosamine-6-sulfate sulfatase showed a high degree of homology with those of other sulfatases such as human arylsulfatases A, B or C, glucosamine-6-sulfatase, iduronate-2-sulfatase and sea urchin arylsulfatase....
The amino acid sequence of N-acetylgalactosamine-6-sulfate sulfatase showed a high degree of homology with those of other sulfatases such as …
Purification and characterization of N-acetylglucosamine-6-sulfate sulfatase from bovine kidney: evidence for the presence of a novel endosulfatase activity.
Shilatifard A, Cummings RD. Shilatifard A, et al. Biochemistry. 1994 Apr 12;33(14):4273-82. doi: 10.1021/bi00180a023. Biochemistry. 1994. PMID: 8155645
The N-terminal sequence of the bovine NG6SS was homologous to a human-liver-derived N-acetylglucosamine-6-sulfatase. The endosulfatase activity of bovine kidney NG6SS may be important in its potential role in the degradation of sulfated glycans and may …
The N-terminal sequence of the bovine NG6SS was homologous to a human-liver-derived N-acetylglucosamine-6-sulfatase …
Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID.
Roca C, Motas S, Marcó S, Ribera A, Sánchez V, Sánchez X, Bertolin J, León X, Pérez J, Garcia M, Villacampa P, Ruberte J, Pujol A, Haurigot V, Bosch F. Roca C, et al. Hum Mol Genet. 2017 Apr 15;26(8):1535-1551. doi: 10.1093/hmg/ddx058. Hum Mol Genet. 2017. PMID: 28334745 Free article.
This autosomic recessive, heparan sulphate storage disease is caused by deficiency in N-acetylglucosamine 6-sulfatase (GNS). Mice deficient in GNS showed lysosomal storage pathology and loss of lysosomal homeostasis in the CNS and periphe …
This autosomic recessive, heparan sulphate storage disease is caused by deficiency in N-acetylglucosamine 6-sulfatas …
21 results