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 …

Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …

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

Experimental modelling of human disorders enables the definition of the cellular and
molecular mechanisms underlying diseases and the development of therapies for treating …

Amyotrophic lateral sclerosis (ALS) is the most frequent motor neuron disease. Cytoplasmic
fused in sarcoma (FUS) aggregates are pathological hallmarks of FUS-ALS. Proper shuttling …

Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations
are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough 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 …

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 …

Human organoids could facilitate research of complex and currently incurable
neuropathologies, such as age-related macular degeneration (AMD) which causes …

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 …