In childhood the neuronal ceroid lipofuscinoses (NCL) are the most frequent lysosomal
diseases and the most frequent neurodegenerative diseases but, in adulthood, they …

The neuronal ceroid lipofuscinoses (NCL) are severe neurodegenerative lysosomal storage
disorders of childhood, characterized by accumulation of autofluorescent ceroid …

ClC‐7 is a chloride channel of late endosomes and lysosomes. In osteoclasts, it may
cooperate with H+‐ATPases in acidifying the resorption lacuna. In mice and man, loss of …

The fatal, primarily childhood neurodegenerative disorders, neuronal ceroid lipofuscinoses
(NCLs), are currently associated with mutations in 13 genes. The protein products of these …

The neuronal ceroid-lipofuscinoses (NCLs), collectively also called Batten disease,
constitute one of the most common groups of inherited neurodegenerative disorders in …

The neuronal ceroid lipofuscinoses (NCLs) are a group of severe neurodegenerative
diseases with onset usually in childhood and characterised by the intracellular accumulation …

The neuronal ceroid-lipofuscinoses (NCLs) collectively constitute the most common group of
neurodegenerative diseases in childhood and usually show an autosomal recessive mode …

Heterozygous loss-of-function mutations in the progranulin (GRN) gene and the resulting
reduction of GRN levels is a common genetic cause for frontotemporal lobar degeneration …

The main aim of this review is to summarize the current state-of-art in the field of childhood
Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These …

Palmitoyl-protein thioesterase is a newly described long chain fatty-acid hydrolase that
removes fatty acyl groups from modified cysteines in proteins. We have recently identified …