Literature DB >> 7623459

Molecular defect of caprine N-acetylglucosamine-6-sulphatase deficiency. A single base substitution creates a stop codon in the 5'-region of the coding sequence.

K T Cavanagh1, J R Leipprandt, M Z Jones, K Friderici.   

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Year:  1995        PMID： 7623459     DOI： 10.1007/bf00711390

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases.

Authors:  D A Robertson; C Freeman; C P Morris; J J Hopwood
Journal:  Biochem J       Date:  1992-12-01       Impact factor: 3.857

2.  N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID).

Authors:  J N Thompson; M Z Jones; G Dawson; P S Huffman
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  2 in total
  5 in total

1.  Caprine mucopolysaccharidosis IIID: a preliminary trial of enzyme replacement therapy.

Authors:  E Downs-Kelly; M Z Jones; J Alroy; K T Cavanagh; B King; R E Lucas; J C Baker; S A Kraemer; J J Hopwood
Journal:  J Mol Neurosci       Date:  2000-12       Impact factor: 3.444

2.  Expression, purification and characterization of recombinant caprine N-acetylglucosamine-6-sulphatase.

Authors:  T Litjens; J Bielicki; D S Anson; K Friderici; M Z Jones; J J Hopwood
Journal:  Biochem J       Date:  1997-10-01       Impact factor: 3.857

3.  A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs.

Authors:  N M Ellinwood; P Wang; T Skeen; N J H Sharp; M Cesta; S Decker; N J Edwards; I Bublot; J N Thompson; W Bush; E Hardam; M E Haskins; U Giger
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

4.  Caprine mucopolysaccharidosis IIID: fetal and neonatal brain and liver glycosaminoglycan and morphological perturbations.

Authors:  Margaret Z Jones; Joseph Alroy; Erinn Downs-Kelly; Rebecca E Lucas; Stacey A Kraemer; Kevin T Cavanagh; Barbara King; John J Hopwood
Journal:  J Mol Neurosci       Date:  2004       Impact factor: 3.444

Review 5.  A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.

Authors:  Eveline M Ibeagha-Awemu; Patrick Kgwatalala; Aloysius E Ibeagha; Xin Zhao
Journal:  Mamm Genome       Date:  2008-03-19       Impact factor: 2.957
  5 in total

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