Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/68531
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Type: Journal article
Title: Gaucher disease in sheep
Author: Karageorgos, L.
Lancaster, M.
Nimmo, J.
Hopwood, J.
Citation: Journal of Inherited Metabolic Disease, 2011; 34(1):209-215
Publisher: Kluwer Academic Publ
Issue Date: 2011
ISSN: 0141-8955
1573-2665
Abstract: Gaucher disease, an autosomal recessive lysosomal storage disorder caused by mutations in the β-glucocerebrosidase gene, was recently discovered in sheep on a "Southdown" sheep stud in Victoria, Australia. Clinical signs include neuropathy, thickened leathery skin, and ichthyosis, with lambs unable to stand from birth. Affected lambs were found to be deficient in glucocerebrosidase activity, and mutational analysis found them to be homozygous for the missense mutations c.1142G>A (p.C381Y) and c.1400C>T (p.P467L). In addition, four silent mutations were detected (c.777C>A [p.Y259Y], c1203A>G [p.Q401Q], c.1335T>C [p.I445I], c.1464C>G [p.L488L]). The human equivalent [C342Y] to the C381Y mutation leads to an acute neuronopathic phenotype in patients. Identification of an acute neuronopathic form of Gaucher disease in sheep provides a large animal model that will enable studies of pathology and evaluation of therapies to treat this common lysosomal storage disorder.
Keywords: Cells, Cultured; Animals; Sheep; Humans; Gaucher Disease; Sheep Diseases; Glucosylceramidase; DNA Mutational Analysis; Amino Acid Sequence; Sequence Homology, Amino Acid; Homozygote; Mutation, Missense; Molecular Sequence Data
Rights: © SSIEM and Springer 2010
RMID: 0020102747
DOI: 10.1007/s10545-010-9230-3
Appears in Collections:Paediatrics publications

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