Document Detail

Gaucher disease in sheep.
MedLine Citation:
PMID:  20978939     Owner:  NLM     Status:  In-Data-Review    
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.
Litsa Karageorgos; Malcolm J Lancaster; Judith S Nimmo; John J Hopwood
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Publication Detail:
Type:  Journal Article     Date:  2010-10-27
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  34     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-01-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  209-15     Citation Subset:  IM    
Lysosomal Diseases Research Unit, A Research Centre of SA Pathology, Women's and Children's Hospital, North Adelaide, SA, 5006, Australia,
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