Lysosomal acidification dysfunction has been implicated as a key driving factor in the
pathogenesis of neurodegenerative diseases, including Alzheimer's disease and …

Neurodegenerative diseases are a large class of neurological disorders characterized by
progressive dysfunction and death of neurones. Examples include Alzheimer's disease …

We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy
and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in …

Cells rely on protein homeostasis to maintain proper biological functions. Dysregulation of
protein homeostasis contributes to the pathogenesis of many neurodegenerative diseases …

The vacuolar H+-ATPase is a large multi-subunit proton pump, composed of an integral
membrane V0 domain, involved in proton translocation, and a peripheral V1 domain …

Cellular communication processes are highly dynamic and mediated, at least in part, by
contacts between various membrane structures. The endoplasmic reticulum (ER), the major …

Mitochondrial population maintenance in neurons is essential for neuron function and
survival. Contact sites between mitochondria and the endoplasmic reticulum (ER) are …

Vacuole membrane protein 1 (VMP1) is an integral membrane protein that plays a pivotal
role in cellular processes, particularly in the regulation of autophagy. Autophagy, a self …

Mutations in the gene encoding vesicle-associated membrane protein B (VAPB) cause a
familial form of amyotrophic lateral sclerosis (ALS). Expression of an ALS-related variant of …

Introduction Fused in sarcoma (FUS) mutations represent the most common genetic etiology
of juvenile amyotrophic lateral sclerosis (JALS), for which effective treatments are lacking. In …