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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.
Lysosomal Diseases Research Unit, A Research Centre of SA Pathology, Women's and Children's Hospital, North Adelaide, SA, 5006, Australia, email@example.com.
This article was published in the following journal.
Name: Journal of inherited metabolic disease
To study disease severity and response to enzyme replacement therapy in Gaucher disease.
Up to now, there are no reliable biochemical markers or imaging that could reveal early tissue damage in Gaucher disease. Therefore, we addressed whether elastography technique can serve as a tool for...
Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is characterized by the presence of glucosylceramide-laden macrophages resulting from impaired digestion of aged erythrocytes...
Patients with type 1 Gaucher disease have been reported to be more likely to have cholelithiasis.
Almost any anatomical compartment may be involved in Gaucher disease (GD). Abdominal lymphadenopathy occurred during enzyme replacement therapy in more than a dozen children with GD so far. A fourteen...
The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint...
Gaucher disease is a most common genetic metabolic disease characterized by low platelet number, liver and spleen enlargement and various forms of bone diseases including low bone mineral ...
The ICGG Gaucher Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Gaucher disease, irrespectiv...
The purpose of this study is to evaluate the long-term safety of every other week dosing of Gene-Activated® human glucocerebrosidase (GA-GCB, velaglucerase alfa) intravenously in patients...
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates...
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces "struck", and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease.
A genus of the family BUNYAVIRIDAE named after NAIROBI SHEEP DISEASE, an acute, hemorrhagic, tick-borne, gastroenteritis affecting sheep and goats. The type species is Dugbe virus. Some viruses in this genus are capable of causing severe and fatal disease in humans.
An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis.
A species of NAIROVIRUS, transmitted by the ixodid ticks and producing a lethal gastroenteritis in sheep and goats. Though a major veterinary pathogen, its effect on humans has not been firmly established.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
Acne Dermatology Eczema Psoriasis Wound Care Dermatology is the medical specialty concerned with the diagnosis and treatment of skin disorders (Oxford Medical Dictionary). As well as studying how the skin works, dermatology covers...