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 …

It has recently become clear that lysosomes have more complex functions than simply being
the end-point on a degradative pathway. Similarly, it is now emerging that there are …

Lysosomes have many roles, including degrading macromolecules and signalling to the
nucleus. Lysosomal dysfunction occurs in various human conditions, such as common …

Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play
crucial roles in cellular clearance. Numerous functions depend on normal lysosomes …

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 …

The retinal pigment epithelium-photoreceptor interphase is renewed each day in a stunning
display of cellular interdependence. While photoreceptors use photosensitive pigments to …

Autophagy is a catabolic process with an essential function in the maintenance of cellular
and tissue homeostasis. It is primarily recognised for its role in the degradation of …

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

Purpose The ability of a single technology, next-generation sequencing, to provide both
sequence and copy number variant (CNV) results has driven the merger of clinical …

Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal neurodegenerative
disease whose defective gene has remained elusive. A molecular basis for LINCL was …