LIPA

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LIPA

A gene on chromosome 10q23.2 that encodes lipase A, the lysosomal acid lipase (i.e., cholesterol ester hydrolase) that catalyses the hydrolysis of cholesteryl esters and triglycerides in lysosomes.

Molecular pathology
LIPA mutations are linked to CESD and Wolman disease.
References in periodicals archive ?
In addition to heterozygous E3[DELTA]149Leu, the differential diagnosis of nontraumatic splenomegaly with hypertriglyceridemia includes: deficiency of lipoprotein lipase or its cofactor apoC-II, deficiency of lysosomal acid lipase, or hemophagocytic lymphohistiocytosis (1-3).
Co-Localization of Macrophage Aggregation and Fibrosis in a Rat Model of Lysosomal Acid Lipase (LAL) Deficiency and the Effects of Enzyme Replacement with SBC-102," J.
Poster 1339 entitled "Enzyme Replacement with Recombinant Human Lysosomal Acid Lipase (rhLAL) in Patients with Cholesteryl Ester Storage Disease, the Late Onset Form of LAL Deficiency, Produces Sustained Decreases in Transaminases and Reduction in Liver Fat Content" can be viewed during the poster session on Monday, November 12, 2012 at 8:00 a.
Sebelipase alfa is a recombinant form of the human Lysosomal Acid Lipase (LAL) enzyme under development by Synageva as an enzyme replacement therapy for LAL Deficiency, a lysosomal storage disorder (LSD).
23 December 2011 - US Synageva BioPharma Corp (NASDAQ:GEVA) said yesterday it had finalised enrollment in a Phase I/II study of enzyme replacement therapy SBC-102 for late onset Lysosomal Acid Lipase (LAL) Deficiency.
Both posters entitled "Liver Disease and Chronic Liver Failure have Complete Penetrance in Cholesteryl Ester Storage Disease, a Form of Lysosomal Acid Lipase Deficiency" and "Cholesteryl Ester Storage Disease (CESD): An Under-Recognized Disease of Lysosomal Acid Lipase Deficiency with Liver Dysfunction/Failure and Hyperlipidemia" were submitted by Donna L.
SBC-102 is a recombinant form of the human LAL enzyme being developed as an enzyme replacement therapy for Lysosomal Acid Lipase (LAL) Deficiency, a lysosomal storage disorder (LSD).
Recombinant Lysosomal Acid Lipase (LAL) demonstrates pharmacodynamic activity in Cholesteryl Ester Storage Disease (CESD), the late onset form of LAL Deficiency," Simon Jones, 10:30 am-12:00 pm GMT
SBC-102 is being developed as an enzyme replacement therapy for Lysosomal Acid Lipase (LAL) Deficiency, a lysosomal storage disorder (LSD), and is a recombinant form of the human LAL enzyme.
Synageva's lead program, SBC-102 is being developed as an enzyme replacement therapy for Lysosomal Acid Lipase (LAL) Deficiency, a lysosomal storage disorder (LSD), and is a recombinant form of the human LAL enzyme.
SBC-102 is being developed as an enzyme replacement for Lysosomal Acid Lipase (LAL) Deficiency, a lysosomal storage disorder (LSD), and is a recombinant form of the human LAL enzyme.

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