Title : Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis.

Pub. Date : 1998 Jul

PMID : 9648881






2 Functional Relationships(s)
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1 Infantile neuronal ceroid lipofuscinosis (INCL) is a neurodegenerative lysosomal storage disease that results from a deficiency of palmitoyl protein thioesterase (PPT), a deacylating enzyme that removes cysteine-bound palmitate from proteins. Cysteine palmitoyl-protein thioesterase 1 Homo sapiens
2 In contrast, when the total RNA extract from lymphoblasts was probed with 32P-labeled PPT by northern blot analysis, the level of transcript varied among independent INCL families and was not related to PPT activity. Phosphorus-32 palmitoyl-protein thioesterase 1 Homo sapiens