A wide variety of inherited lysosomal hydrolase deficiencies have been reported in animals
and are characterized by accumulation of sphingolipids, glycolipids, oligosaccharides, or …

Neuronal ceroid lipofuscinoses are a group of fatal progressive neurodegenerative diseases
predominantly affecting children. Identification of mutations that cause neuronal ceroid …

The ceroid‐lipofuscinoses (Batten disease) are neurodegenerative inherited lysosomal
storage diseases of children and animals. A common finding is the occurrence of fluorescent …

Neuronal ceroid lipofuscinosis (NCL) comprises∼ 13 genetically distinct lysosomal
disorders primarily affecting the central nervous system. Here we report successful …

F1Fo-ATP synthase is a key enzyme of mitochondrial energy provision producing most of
cellular ATP. So far, mitochondrial diseases caused by isolated disorders of the ATP …

Mutations in the CLN2 gene, which encodes a lysosomal serine protease, tripeptidyl-
peptidase I (TPP I), result in an autosomal recessive neurodegenerative disease of children …

Immunochemical studies demonstrate that subunit c of mitochondrial ATP synthase is stored
in the late-infantile, juvenile and adult forms of Batten's disease. It does not accumulate in …

The progressive myoclonus epilepsies (PMEs) are a group of rare genetic disorders
previously shrouded in nosological confusion. Recent advances have clarified the features …

Pigment of brown atrophy of bovine muscle was interpreted as an exacerbation of age
pigment accumulation that also occurred in brain. Isolated muscle pigment was able to be …

The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive
neurodegenerative diseases, with most forms having a childhood onset of clinical signs. The …