Autophagy is a major, conserved cellular pathway by which cells deliver cytoplasmic
contents to lysosomes for degradation. Genetic studies have revealed extensive links …

With the increase in the ageing population, neurodegenerative disease is devastating to
families and poses a huge burden on society. The brain and spinal cord are extraordinarily …

Protein aggregation is a continuous process in our cells. Some proteins aggregate in a
regulated manner required for different vital functional processes in the cells whereas other …

Autophagy is an intracellular degradation pathway essential for cellular and energy
homoeostasis. It functions in the clearance of misfolded proteins and damaged organelles …

Throughout the genome, unstable tandem nucleotide repeats can expand to cause a variety
of neurologic disorders. Expansion of a CAG triplet repeat within a coding exon gives rise to …

In multicellular organisms, cell death is an essential aspect of life. Over the past decade, the
spectrum of different forms of regulated cell death (RCD) has expanded dramatically with …

Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive
mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological …

Primary dysfunction of autophagy due to Mendelian defects affecting core components of the
autophagy machinery or closely related proteins have recently emerged as an important …

Rare genetic diseases affect a limited number of patients, but their etiology is often known,
facilitating the development of reliable animal models and giving the opportunity to …

The terminal stages of neuronal degeneration and death in neurodegenerative diseases
remain elusive. Autophagy is an essential catabolic process frequently failing in …