title: Genetic disorders of simple sphingolipid metabolism.
abstract: A better understanding of the functions sphingolipids play in living organisms can be achieved by analyzing the biochemical and physiological changes that result from genetic alterations of sphingolipid metabolism. This review summarizes the current knowledge gained from studies both on human patients and mutant animals (mice, cats, dogs, and cattle) with genetic disorders of sphingolipid metabolism. Genetic alterations affecting the biosynthesis, transport, or degradation of simple sphingolipids are discussed.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale UMR1037, Centre de Recherches en Cancérologie de Toulouse, Team n°4, Université de Toulouse, CHU Rangueil, 84225, Toulouse Cedex 4, 31432, France.
authors.forename: Virginie
authors.initials: V
authors.lastname: Albinet
authors.forename: Marie-Lise
authors.initials: ML
authors.lastname: Bats
authors.forename: Carmen
authors.initials: C
authors.lastname: Bedia
authors.forename: Frédérique
authors.initials: F
authors.lastname: Sabourdy
authors.forename: Virginie
authors.initials: V
authors.lastname: Garcia
authors.forename: Bruno
authors.initials: B
authors.lastname: Ségui
authors.forename: Nathalie
authors.initials: N
authors.lastname: Andrieu-Abadie
authors.forename: Thorsten
authors.initials: T
authors.lastname: Hornemann
authors.forename: Thierry
authors.initials: T
authors.lastname: Levade
mesh_terms: D000446:Aldehyde-Lyases / Q000502:physiology; D000818:Animals; D001692:Biological Transport; D002352:Carrier Proteins / Q000235:genetics; D055572:Ceramidases / Q000235:genetics / Q000502:physiology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins / Q000235:genetics; D000077296:Niemann-Pick C1 Protein; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D051102:Serine C-Palmitoyltransferase / Q000235:genetics / Q000502:physiology; D013107:Sphingolipids / Q000378:metabolism*; D000099157:Sphingosine Kinase
chemical_list: D000446:Aldehyde-Lyases; D002352:Carrier Proteins; D055572:Ceramidases; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; D000077296:Niemann-Pick C1 Protein; D017853:Phosphotransferases (Alcohol Group Acceptor); D017346:Protein Serine-Threonine Kinases; D051102:Serine C-Palmitoyltransferase; D013107:Sphingolipids; D000099157:Sphingosine Kinase; C106881:NPC1 protein, human; C119090:CERT1 protein, human; C022649:sphingosine 1-phosphate lyase (aldolase)