The Importance of Neuronal Membrane Biology
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
Nerve cells have a uniquely large surface-to-volume ratio, suggesting a central role for proper membrane turnover in these cells. A recent study confirmed this paradigm by showing that a membrane fusion protein is mutated in patients with a novel form of ataxia. These findings, which critically relied on genetic insights provided by CENTOGENE, were published in BRAIN, one of the leading neurological journals.