Article
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
The Journal of clinical investigation - 15 Jul 1998
Das A K, Becerra C H, Yi W, Lu J Y, Siakotos A N, Wisniewski K E, Hofmann S L
Abstract excerpt
Mutations in a newly described lysosomal enzyme, palmitoyl-protein thioesterase (PPT), were recently shown to be responsible for an autosomal recessive neurological disorder prevalent in Finland, infantile neuronal ceroid lipofuscinosis. The disease results in blindness, motor and cognitive deterioration, and seizures. Characteristic inclusion bodies (granular osmiophilic deposits [GROD]) are found in the brain...
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