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 …

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

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 late-infantile–onset forms are the most genetically heterogeneous group among the
autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid …

Sphingolipids, lipids with a common sphingoid base (also termed long chain base)
backbone, play essential cellular structural and signaling functions. Alterations of …

Neuronal ceroid lipofuscinoses (NCL) comprise a group of inherited lysosomal disorders
with variable age of onset, characterized by lysosomal accumulation of autofluorescent …

Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and transferred to
the Golgi complex by interaction with the Batten disease protein CLN8 (ceroid lipofuscinosis …