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15 relations: Carmofur, Ceramidase, Ceramide, Colorectal cancer, Enzyme, Farber disease, Gene, Glioblastoma, Glycosylation, Lysosomal storage disease, Melanocyte, Microphthalmia-associated transcription factor, Post-translational modification, Sphingosine, Spinal muscular atrophy with progressive myoclonic epilepsy.
Carmofur
Carmofur (INN) or HCFU (1-hexylcarbamoyl-5-fluorouracil) is a pyrimidine analogue used as an antineoplastic agent.
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Ceramidase
Ceramidase (acylsphingosine deacylase, glycosphingolipid ceramide deacylase) is an enzyme which cleaves fatty acids from ceramide, producing sphingosine (SPH) which in turn is phosphorylated by a sphingosine kinase to form sphingosine-1-phosphate (S1P).
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Ceramide
Ceramides are a family of waxy lipid molecules.
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Colorectal cancer
Colorectal cancer (CRC), also known as bowel cancer and colon cancer, is the development of cancer from the colon or rectum (parts of the large intestine).
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Enzyme
Enzymes are macromolecular biological catalysts.
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Farber disease
Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis") is an extremely rare (80 cases reported worldwide to this day) autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase that causes an accumulation of fatty material sphingolipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Glioblastoma
Glioblastoma, also known as glioblastoma multiforme (GBM), is the most aggressive cancer that begins within the brain.
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Glycosylation
Glycosylation (see also chemical glycosylation) is the reaction in which a carbohydrate, i.e. a glycosyl donor, is attached to a hydroxyl or other functional group of another molecule (a glycosyl acceptor).
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Lysosomal storage disease
Lysosomal storage diseases (LSDs) are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function.
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Melanocyte
Melanocytes are melanin-producing neural crest-derived cells located in the bottom layer (the stratum basale) of the skin's epidermis, the middle layer of the eye (the uvea), the inner ear, vaginal epithelium, meninges, bones, and heart.
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Microphthalmia-associated transcription factor
Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the MITF gene.
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Post-translational modification
Post-translational modification (PTM) refers to the covalent and generally enzymatic modification of proteins following protein biosynthesis.
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Sphingosine
Sphingosine (2-amino-4-octadecene-1,3-diol) is an 18-carbon amino alcohol with an unsaturated hydrocarbon chain, which forms a primary part of sphingolipids, a class of cell membrane lipids that include sphingomyelin, an important phospholipid.
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Spinal muscular atrophy with progressive myoclonic epilepsy
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy), predominantly affecting distal muscles, combined with denervation and myoclonic seizures.
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ASAH1 (gene), Acid ceramidase.
