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Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", [2] and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme.
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
Emmanuel Farber (October 19, 1918, Toronto, Canada – August 3, 2014, Columbia, South Carolina) was a Canadian-American physician, pathologist, biochemist, and oncologist. He is known for his research on the biochemistry of carcinogenesis .
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Tay–Sachs disease was the first of these disorders to be described, in 1881, followed by Gaucher disease in 1882. In the late 1950s and early 1960s, de Duve and colleagues, using cell fractionation techniques, cytological studies, and biochemical analyses, identified and characterized the lysosome as a cellular organelle responsible for ...
The GM1 gangliosidoses, usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase.The deficiency causes abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells, resulting in progressive neurodegeneration.
In 2018, he was awarded a 5-year $3.3 million NIH grant for researching novel pharmaceuticals and diseases associated with altered levels of lipoproteins. [4] In 2002, together with Jamie Shuda he developed an outreach program named BioEYES which allowed students to gain hands-on biology experience by studying live zebrafish in the classroom.