Lysosomes and lysosomal hydrolases, including the cathepsins, have been shown to
change their properties with aging brain a long time ago, although their function was not …

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 …

Batten disease, one of the most devastating types of neurodegenerative lysosomal storage
disorders, is caused by mutations in CLN3. Here, we show that CLN3 is a vesicular …

Batten disease (also known as neuronal ceroid lipofuscinoses) constitutes a family of
devastating lysosomal storage disorders that collectively represent the most common …

Lysosomes are cell organelles that degrade macromolecules to recycle their components. If
lysosomal degradative function is impaired, eg, due to mutations in lysosomal enzymes or …

The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage disorders and together
are the most common degenerative brain diseases in childhood. They are a group of …

Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant
social and professional consequences. Molecular genetic information is invaluable for an …

The neuronal ceroid lipofuscinoses constitute one of many groups of rare childhood
diseases for which disease-modifying treatments are nonexistent. Disease-specific barriers …

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 …

Background Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease,
characterised by rapid psychomotor decline and epilepsy, is caused by deficiency of the …