Biomaterial Database

Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease. 1996

D Ameis, and H Greten

Medizinische Kern- und Poliklinik, Universitäts-Krankenhaus Eppendorf, Hamburg.

UI	MeSH Term	Description	Entries
D008049	Lipase	An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. It is produced by glands on the tongue and by the pancreas and initiates the digestion of dietary fats. (From Dorland, 27th ed) EC 3.1.1.3.	Triacylglycerol Lipase,Tributyrinase,Triglyceride Lipase,Acid Lipase,Acid Lipase A,Acid Lipase B,Acid Lipase I,Acid Lipase II,Exolipase,Monoester Lipase,Triacylglycerol Hydrolase,Triglyceridase,Triolean Hydrolase,Hydrolase, Triacylglycerol,Hydrolase, Triolean,Lipase A, Acid,Lipase B, Acid,Lipase I, Acid,Lipase II, Acid,Lipase, Acid,Lipase, Monoester,Lipase, Triglyceride
D008247	Lysosomes	A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured or undergoes MEMBRANE FUSION. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed).	Autolysosome,Autolysosomes,Lysosome
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D004252	DNA Mutational Analysis	Biochemical identification of mutational changes in a nucleotide sequence.	Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005838	Genotype	The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.	Genogroup,Genogroups,Genotypes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015217	Cholesterol Ester Storage Disease	An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.	Cholesteryl Ester Storage Disease
D015223	Wolman Disease	The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.	Acid Cholesteryl Ester Hydrolase Deficiency, Type 2,Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type,Acid Lipase Disease,LIPA Deficiency,Lysosomal Acid Lipase Deficiency,Xanthomatosis, Familial,Xanthomatosis, Wolman's,Acid Lipase Deficiency,Cholesterol ester hydrolase deficiency,Familial Xanthomatosis,LAL Deficiency,Liposomal Acid Lipase Deficiency, Wolman Type,Wolman Disease with Hypolipoproteinemia and Acanthocytosis,Wolman's Disease,Acid Lipase Deficiencies,Acid Lipase Diseases,Deficiencies, Acid Lipase,Deficiencies, LAL,Deficiencies, LIPA,Deficiency, Acid Lipase,Deficiency, LAL,Deficiency, LIPA,Disease, Acid Lipase,Disease, Wolman,Disease, Wolman's,Diseases, Acid Lipase,Familial Xanthomatoses,LAL Deficiencies,LIPA Deficiencies,Lipase Deficiencies, Acid,Lipase Deficiency, Acid,Lipase Disease, Acid,Lipase Diseases, Acid,Wolman's Xanthomatosis,Wolmans Disease,Xanthomatoses, Familial,Xanthomatosis, Wolman,Xanthomatosis, Wolmans
D018076	DNA, Complementary	Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.	Complementary DNA,cDNA,cDNA Probes,Probes, cDNA