Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||Gaucher disease in sheep|
|Citation:||Journal of Inherited Metabolic Disease, 2011; 34(1):209-215|
|Publisher:||Kluwer Academic Publ|
|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|
|Appears in Collections:||Paediatrics publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.