In situ degradation of sphingomyelin by cultured normal fibroblasts and fibroblasts from patients with Niemann-Pick disease type A and C. 1982

J C Maziere, and C Maziere, and L Mora, and J D Routier, and J Polonovski

UI MeSH Term Description Entries
D009542 Niemann-Pick Diseases A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences. ASM Deficiency,ASM-Deficient Niemann-Pick Disease,Acid Sphingomyelinase Deficiency,Acid Sphingomyelinase-deficient Niemann-Pick Disease,Niemann-Pick Disease,ASM Deficiencies,ASM Deficient Niemann Pick Disease,ASM-Deficient Niemann-Pick Diseases,Acid Sphingomyelinase deficient Niemann Pick Disease,Deficiencies, ASM,Deficiencies, Acid Sphingomyelinase,Deficiency, ASM,Deficiency, Acid Sphingomyelinase,Disease, ASM-Deficient Niemann-Pick,Diseases, ASM-Deficient Niemann-Pick,Niemann Pick Disease,Niemann Pick Diseases,Niemann-Pick Disease, ASM-Deficient,Niemann-Pick Diseases, ASM-Deficient,Sphingomyelinase Deficiencies, Acid,Sphingomyelinase Deficiency, Acid
D002478 Cells, Cultured Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others. Cultured Cells,Cell, Cultured,Cultured Cell
D002794 Choline A basic constituent of lecithin that is found in many plants and animal organs. It is important as a precursor of acetylcholine, as a methyl donor in various metabolic processes, and in lipid metabolism. Bursine,Fagine,Vidine,2-Hydroxy-N,N,N-trimethylethanaminium,Choline Bitartrate,Choline Chloride,Choline Citrate,Choline Hydroxide,Choline O-Sulfate,Bitartrate, Choline,Chloride, Choline,Choline O Sulfate,Citrate, Choline,Hydroxide, Choline,O-Sulfate, Choline
D005347 Fibroblasts Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. Fibroblast
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013109 Sphingomyelins A class of sphingolipids found largely in the brain and other nervous tissue. They contain phosphocholine or phosphoethanolamine as their polar head group so therefore are the only sphingolipids classified as PHOSPHOLIPIDS. Sphingomyelin

Related Publications

J C Maziere, and C Maziere, and L Mora, and J D Routier, and J Polonovski
October 1983, Clinical genetics,
J C Maziere, and C Maziere, and L Mora, and J D Routier, and J Polonovski
April 1987, Biochimica et biophysica acta,
J C Maziere, and C Maziere, and L Mora, and J D Routier, and J Polonovski
March 1982, Biochemical and biophysical research communications,
J C Maziere, and C Maziere, and L Mora, and J D Routier, and J Polonovski
January 1987, Journal of inherited metabolic disease,
J C Maziere, and C Maziere, and L Mora, and J D Routier, and J Polonovski
April 1986, The Tohoku journal of experimental medicine,
J C Maziere, and C Maziere, and L Mora, and J D Routier, and J Polonovski
February 1992, Biochimica et biophysica acta,
J C Maziere, and C Maziere, and L Mora, and J D Routier, and J Polonovski
March 2016, Archives of biochemistry and biophysics,
J C Maziere, and C Maziere, and L Mora, and J D Routier, and J Polonovski
March 1979, Human genetics,
J C Maziere, and C Maziere, and L Mora, and J D Routier, and J Polonovski
May 1983, Biochimica et biophysica acta,
J C Maziere, and C Maziere, and L Mora, and J D Routier, and J Polonovski
June 2004, Brain & development,
Copied contents to your clipboard!