Bovine mucopolysaccharidosis type IIIB

Litsa Karageorgos; B. Hill; M. J. Bawden; J. J. Hopwood

doi:10.1007/s10545-007-0539-5

Bovine mucopolysaccharidosis type IIIB

Litsa Karageorgos, B. Hill, M. J. Bawden, J. J. Hopwood

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

Abstract

Mucopolysaccharidosis IIIB, an autosomal recessive lysosomal storage disorder of heparan sulfate caused by mutations in the α-N-acetylglucosaminidase (NAGLU) gene, was recently discovered in cattle. Clinical signs include progressive ataxia, stumbling gait, swaying and difficulty in balance and walking. These clinical signs are usually first observed at approximately 2 years of age and then develop progressively over the lifespan of the animals. Affected bulls were found to be homozygous for the missense mutation E452K (c.1354G>A). The availability of mutational analysis permits screening for the NAGLU mutation to eradicate this mutation from the cattle breeding population.

Original language	English
Pages (from-to)	358-364
Number of pages	7
Journal	Journal of Inherited Metabolic Disease
Volume	30
Issue number	3
DOIs	https://doi.org/10.1007/s10545-007-0539-5
Publication status	Published or Issued - Jun 2007

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Bovine mucopolysaccharidosis type IIIB",

abstract = "Mucopolysaccharidosis IIIB, an autosomal recessive lysosomal storage disorder of heparan sulfate caused by mutations in the α-N-acetylglucosaminidase (NAGLU) gene, was recently discovered in cattle. Clinical signs include progressive ataxia, stumbling gait, swaying and difficulty in balance and walking. These clinical signs are usually first observed at approximately 2 years of age and then develop progressively over the lifespan of the animals. Affected bulls were found to be homozygous for the missense mutation E452K (c.1354G>A). The availability of mutational analysis permits screening for the NAGLU mutation to eradicate this mutation from the cattle breeding population.",

author = "Litsa Karageorgos and B. Hill and Bawden, {M. J.} and Hopwood, {J. J.}",

note = "Funding Information: Acknowledgements We acknowledge funding support from the National Health and Medical Research Council of Australia for this study. We are grateful to Viv Muller at the Women{\textquoteright}s and Children{\textquoteright}s Hospital in Adelaide for the NAGLU Assay and Kathy Nelson at the Women{\textquoteright}s and Children{\textquoteright}s Hospital in Adelaide for her assistance in culturing fibroblasts. We thank Kim Hemsley for help with the manuscript.",

year = "2007",

month = jun,

doi = "10.1007/s10545-007-0539-5",

language = "English",

volume = "30",

pages = "358--364",

journal = "Journal of Inherited Metabolic Disease",

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publisher = "Springer Netherlands",

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AU - Karageorgos, Litsa

AU - Hill, B.

AU - Bawden, M. J.

AU - Hopwood, J. J.

N1 - Funding Information: Acknowledgements We acknowledge funding support from the National Health and Medical Research Council of Australia for this study. We are grateful to Viv Muller at the Women’s and Children’s Hospital in Adelaide for the NAGLU Assay and Kathy Nelson at the Women’s and Children’s Hospital in Adelaide for her assistance in culturing fibroblasts. We thank Kim Hemsley for help with the manuscript.

PY - 2007/6

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N2 - Mucopolysaccharidosis IIIB, an autosomal recessive lysosomal storage disorder of heparan sulfate caused by mutations in the α-N-acetylglucosaminidase (NAGLU) gene, was recently discovered in cattle. Clinical signs include progressive ataxia, stumbling gait, swaying and difficulty in balance and walking. These clinical signs are usually first observed at approximately 2 years of age and then develop progressively over the lifespan of the animals. Affected bulls were found to be homozygous for the missense mutation E452K (c.1354G>A). The availability of mutational analysis permits screening for the NAGLU mutation to eradicate this mutation from the cattle breeding population.

AB - Mucopolysaccharidosis IIIB, an autosomal recessive lysosomal storage disorder of heparan sulfate caused by mutations in the α-N-acetylglucosaminidase (NAGLU) gene, was recently discovered in cattle. Clinical signs include progressive ataxia, stumbling gait, swaying and difficulty in balance and walking. These clinical signs are usually first observed at approximately 2 years of age and then develop progressively over the lifespan of the animals. Affected bulls were found to be homozygous for the missense mutation E452K (c.1354G>A). The availability of mutational analysis permits screening for the NAGLU mutation to eradicate this mutation from the cattle breeding population.

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JF - Journal of Inherited Metabolic Disease

IS - 3

ER -

Bovine mucopolysaccharidosis type IIIB

Abstract

ASJC Scopus subject areas

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