Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the
predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised …

Motor neuron diseases (MNDs) are an etiologically heterogeneous group of disorders of
neurodegenerative origin, which result in degeneration of lower (LMNs) and/or upper motor …

The main organelles of the secretory and endocytic pathways—the endoplasmic reticulum
(ER) and endosomes, respectively—are connected through contact sites whose numbers …

Endosome maturation depends on membrane contact sites (MCSs) formed between
endoplasmic reticulum (ER) and endolysosomes (LyLEs). The mechanism underlying lipid …

Background De novo loss-of-function (dnLoF) mutations are found twofold more often in
autism spectrum disorder (ASD) probands than their unaffected siblings. Multiple …

Dendrite morphology is pivotal for neural circuitry functioning. While the causative
relationship between small-scale dendrite morphological abnormalities (shape, density of …

Neurons are highly polarized cells with elaborate shapes that allow them to perform their
function. In neurons, microtubule organization—length, density, and dynamics—are …

Hereditary spastic paraplegias are inherited neurological disorders characterized by
progressive lower-limb spasticity and weakness. Although more than 50 genetic loci are …

Spastin is a microtubule (MT)‑severing enzyme identified from mutations of hereditary
spastic paraplegia in 1999 and extensive studies indicate its vital role in various cellular …

Protrudin is a membrane protein that regulates polarized vesicular trafficking in neurons.
The protrudin gene (ZFYVE27) is mutated in a subset of individuals with hereditary spastic …