[Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis].
The main historical steps leading to the concept of Niemann-Pick type C disease as an intracellular lipid and more specifically a cholesterol transport disorder are summarized; the current stage of knowledge and research hypotheses regarding the function of the NPC1 and NPC2 proteins and pathogeny of the cerebral dysfunction are briefly commented. The various approaches for laboratory diagnosis of patients are finally discussed.
Vanier
Marie T
MT
Unité 820, Faculté de Médecine Lyon-Est/Laennec, INSERM, Lyon cedex 8, France. marie-t.vanier@inserm.fr
D001921:Brain / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D050356:Lipid Metabolism; D008562:Membrane Glycoproteins / Q000235:genetics; D009154:Mutation; D000077296:Niemann-Pick C1 Protein; D052556:Niemann-Pick Disease, Type C / Q000175:diagnosis* / Q000235:genetics; D033921:Vesicular Transport Proteins
D002352:Carrier Proteins; D006023:Glycoproteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; C106881:NPC1 protein, human; C104585:NPC2 protein, human; D000077296:Niemann-Pick C1 Protein; D033921:Vesicular Transport Proteins