The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
disorders that affect children and adults and are grouped together by similar clinical features …

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous
neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features …

Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

Ceramide is the key intermediate in the pathway of sphingolipid (SL) 2 biosynthesis (1) and
an important intracellular signaling molecule (2, 3). Ceramide consists of a sphingoid long …

We have sequenced and annotated the genome of the filamentous ascomycete Ashbya
gossypii. With a size of only 9.2 megabases, encoding 4718 protein-coding genes, it is the …

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

Susceptibility to asthma depends on variation at an unknown number of genetic loci. To
identify susceptibility genes on chromosome 7p, we adopted a hierarchical genotyping …

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

We provide a new classification for the neuronal ceroid lipofuscinoses (NCLs) that takes into
account recent genetic and biochemical advances. This was originally developed by an …