palmitoyl-protein hydrolase

Accurate diagnosis, especially in progressive hereditary diseases, is essential for the treatment and genetic counseling of the… Expand

SummaryMajor advances in the molecular genetic analysis of the neuronal ceroid lipofuscinoses (NCL) have recently been made: the… Expand

A deficiency of palmitoyl protein thioesterase (PPT) leads to the neurodegenerative disease infantile neuronal ceroid… Expand

Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disorder in childhood that is caused by mutations… Expand

The infantile form of neuronal ceroid lipofuscinosis (INCL; CLN1) is the earliest onset form of the neuronal ceroid… Expand

Deficiency in palmitoyl protein thioesterase (PPT) results in the rapid death of neocortical neurons in human. Very little is… Expand

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterised by the accumulation… Expand

Abstract: Infantile neuronal ceroid lipofuscinosis (INCL) is a neurodegenerative lysosomal storage disease that results from a… Expand

The marine natural product didemnin B, currently in clinical trials as an antitumor agent, has several potent biological… Expand