Neurons are markedly compartmentalized, which makes them reliant on axonal transport to
maintain their health. Axonal transport is important for anterograde delivery of newly …

Hereditary spastic paraplegias (HSPs) comprise a family of degenerative diseases mostly
hitting descending axons of corticospinal neurons. Depending on the gene and mutation …

The endoplasmic reticulum (ER) forms contacts with the lysosomal compartment, regulating
lysosome positioning and motility. The movements of lysosomes are controlled by the …

SPG15 is a hereditary spastic paraplegia subtype caused by mutations in Spastizin, a
protein encoded by the ZFYVE26 gene. Spastizin is involved in autophagosome maturation …

Background Biallelic mutations in CYP27A1 and CYP7B1, two critical genes regulating
cholesterol and bile acid metabolism, cause cerebrotendinous xanthomatosis (CTX) and …

A G4C2 hexanucleotide repeat expansion in C9orf72 is the most common cause of
amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Bidirectional …

Background: Hereditary spastic paraplegia (HSP) is a progressive upper-motor
neurodegenerative disease. Mutations in the WASHC5 gene are associated with autosomal …

Axonal degeneration underlies many debilitating diseases including hereditary spastic
paraplegia (HSP), a genetically and clinically diverse group of disorders characterized by …

The endoplasmic reticulum (ER) forms contacts with the lysosomal compartment, regulating
lysosome positioning and motility. The movement of lysosomes are controlled by the …