Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …

Despite aging being by far the greatest risk factor for highly prevalent neurodegenerative
disorders, the molecular underpinnings of age-related brain changes are still not well …

The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes
that have a variable age of onset, based on expert consensus of the International League …

The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are
caused for the most part by enzyme deficiencies within the lysosome resulting 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 …

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 …

The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative lysosomal
storage disorders caused by mutations in at least 13 different genes and primarily affect the …

The main aim of this review is to summarize the current state-of-art in the field of childhood
Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These …

Lysosomal storage diseases (LSDs) comprise a large group of disorders of catabolism,
mostly due to deficiency of a single glycan-cleaving hydrolase. The consequent endo …