There are over 70 known lysosomal storage disorders (LSDs), most caused by mutations in
genes encoding lysosomal hydrolases. Central nervous system involvement is a hallmark of …

Lysosomes are specialized organelles with an acidic pH that act as recycling hubs for
intracellular and extracellular components. They harbour numerous different hydrolytic …

Neurodegenerative disorders are characterized by a collapse in proteostasis, as shown by
the accumulation of insoluble protein aggregates in the brain. Proteostasis involves a …

Impaired proteostasis is associated with normal aging and is accelerated in
neurodegeneration. This impairment may lead to the accumulation of protein, which can be …

Lysosomal storage diseases (LSDs) are rare genetic disorders caused by a disruption in
cellular clearance, resulting in pathological storage of undegraded lysosomal substrates …

Lysosomal storage diseases (LSDs) are a group of rare genetic conditions. The absence or
deficiency of lysosomal proteins leads to excessive storage of undigested materials and …

Childhood dementias are a group of over 100 rare and ultra-rare pediatric conditions that
are clinically characterized by chronic global neurocognitive decline. This decline is …

The accumulation of proteins into insoluble aggregates is a common feature of several
neurodegenerative diseases. Aggregated α-synuclein is a major component of Lewy bodies …

Sanfilippo syndrome type C (mucopolysaccharidosis IIIC) is an early-onset
neurodegenerative lysosomal storage disorder, which is currently untreatable. The vast …

Inherited deficiency of thymidine phosphorylase (TP), encoded by TYMP, leads to a rare
disease with multiple mitochondrial DNA (mtDNA) abnormalities, mitochondrial …