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Published on: December 23, 2022
Genetic disorders of simple sphingolipid metabolism
Virginie Albinet1, Marie-Lise Bats, Carmen Bedia
1Institut 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.
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.
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