Lessons from knockout mice II: Mouse models for peroxisomal disorders with single protein deficiency.

Abstract

Several human disorders have been associated with a single peroxisomal protein deficiency. In most of these disorders, the organelle appears morphologically intact but lacks the function of a single enzyme of the peroxisomal matrix (e.g. ACOX1 resulting in pseudo-neonatal ALD; OMIM 264470) or of a membrane protein (e.g. ALDP leading to X-ALD; OMIM 300100).KeywordsPeroxisomal DisorderSterol Carrier ProteinLithogenic DietMicrovesicular SteatosisSterol CarrierThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.