In the past two decades, mutations in multiple genes have been linked to autosomal
dominant or recessive forms of monogenic Parkinson's disease (PD). Collectively, these …

One of the greatest advances in Parkinson's disease (PD) research in the past two decades
has been a better understanding of PD genetics. Of the many candidate genes investigated …

Mutations in the human VPS13 genes are responsible for neurodevelopmental and
neurodegenerative disorders including chorea acanthocytosis (VPS13A) and Parkinson's …

VPS13 is a eukaryotic lipid transport protein localized at membrane contact sites. Previous
studies suggested that it may transfer lipids between adjacent bilayers by a bridge-like …

Chorea-acanthocytosis (ChAc) and McLeod syndrome are diseases with shared clinical
manifestations caused by mutations in VPS13A and XK, respectively. Key features of these …

Membrane contact sites between endoplasmic reticulum (ER) and mitochondria, mediated
by the ER–mitochondria encounter structure (ERMES) complex, are critical for mitochondrial …

The VPS13A gene is associated with the neurodegenerative disorder Chorea
Acanthocytosis. It is unknown what the consequences are of impaired function of VPS13A at …

The regulated expansion of membrane contact sites, which mediate the nonvesicular
exchange of lipids between organelles, requires the recruitment of additional contact site …

Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before
the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that …

Endoplasmic reticulum (ER) macroautophagy (hereafter called ER-phagy) uses autophagy
receptors to selectively degrade ER domains in response to starvation or the accumulation …