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

Neurodegenerative disease (NDD), including Alzheimer's disease, Parkinson's disease, and
amyotrophic lateral sclerosis, are characterized by the progressive loss of neurons which …

Lysosomes are essential for cellular recycling, nutrient signaling, autophagy, and
pathogenic bacteria and viruses invasion. Lysosomal fusion is fundamental to cell survival …

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 …

Objective Intracellular signaling networks rely on proper membrane organization to control
an array of cellular processes such as metabolism, proliferation, apoptosis, and …

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 …

Alzheimer's disease (AD) is a progressive neurodegenerative disorder and is the most
common cause of dementia. The pathogenesis of AD still remains unclear, including two …

Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmental
disorder with progressive congenital microcephaly and early death. SMPD4 encodes a …

The homotypic fusion and protein sorting (HOPS) complex is the structural bridge necessary
for the fusion of late endosomes and autophagosomes with lysosomes. Recent publications …

Purpose Pathogenic variants in SETD1B have been associated with a syndromic
neurodevelopmental disorder including intellectual disability, language delay, and seizures …