| Gaucher disease in sheep. | |
| | |
MedLine Citation:
|
PMID: 20978939 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Litsa Karageorgos; Malcolm J Lancaster; Judith S Nimmo; John J Hopwood |
Related Documents
:
|
23051629 - Predictors of braf mutation in melanocytic nevi: analysis across regions with different... 1532289 - Six novel deleterious and three neutral mutations in the gene encoding the alpha-subuni... 23636579 - Renal tubular dysgenesis. 22791509 - Molecular markers in acute myeloid leukaemia. 23463749 - Trilateral retinoblastoma in a patient with peutz-jeghers syndrome. 20491539 - High prevalence of fulminant hepatic failure among patients with mutant alleles for tru... 12836959 - Population-wide analysis of a qtl affecting milk-fat production in the israeli holstein... 22441809 - Direct-to-consumer genetic testing: introduction to the special issue. 21160829 - Pharmacogenetics of irinotecan: an ethnicity-based prediction of irinotecan adverse eve... |
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 |
Affiliation:
|
Lysosomal Diseases Research Unit, A Research Centre of SA Pathology, Women's and Children's Hospital, North Adelaide, SA, 5006, Australia, litsa.karageorgos@adelaide.edu.au. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study.
Next Document: Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Ve...