Lysosomal storage disorders (LSDs)—designated as' orphan'diseases—are inborn errors of
metabolism caused by defects in genes that encode proteins involved in various aspects of …

Treatment of the neuronal ceroid lipofuscinoses, also known as Batten disease, is at the start
of a new era because of diagnostic and therapeutic advances relevant to this group of …

Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these
conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal …

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 …

Lysosomes critically rely on bis (monoacylglycero) phosphate (BMP) to stimulate lipid
catabolism, cholesterol homeostasis, and lysosomal function. Alterations in BMP levels in …

Progranulin (PGRN), encoded by the GRN gene in humans, is a secreted growth factor
implicated in a multitude of processes ranging from regulation of inflammation to wound …

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

Background Lysosomes digest extracellular material from the endocytic pathway and
intracellular material from the autophagic pathway. This process is performed by the resident …

The lysosome plays a pivotal role between catabolic and anabolic processes as the nexus
for signalling pathways responsive to a variety of factors, such as growth, nutrient …

This review focuses on the pathways that regulate lysosome biogenesis and that are
implicated in numerous degenerative storage diseases, including lysosomal storage …