Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

Cellular trafficking is essential to maintain critical biological functions. Mutations in 346
genes, most of them described in the last 5 years, are associated with disorders of cellular …

Dystonia is a hyperkinetic movement disorder characterized by abnormal movement or
posture caused by excessive muscle contraction. Because of its wide clinical spectrum …

The multisubunit HOPS tethering complex is a well-established regulator of lysosome fusion
with late endosomes and autophagosomes. However, the role of the HOPS complex in other …

Hereditary spastic paraplegia (HSP) refers to a group of neurological disorders involving the
degeneration of motor neurons. Due to their clinical and genetic heterogeneity, finding …

The exponential accumulation of DNA sequencing data has opened new avenues for
discovering the causative roles of single-nucleotide polymorphisms (SNPs) in neurological …

AP2S1 is the sigma 2 subunit of adaptor protein 2 (AP2) that is essential for endocytosis. In
this study, we investigated the potential role of AP2S1 in intracellular processing of amyloid …

The discovery of biological pathways shared between different monogenic dystonias is an
important conceptual advance in the understanding of the underlying mechanisms, with a …

Animal and human brain-imaging studies have suggested a role for neurodevelopmental
abnormalities in the pathophysiology of dystonia. Variants in neurodevelopmental genes …

In neurons, macroautophagy/autophagy is a frequent and critical process. In the axon,
autophagy begins in the axon terminal, where most nascent autophagosomes form. After …