Intracellular protein-protein interactions are dynamic events requiring tightly regulated
spatial and temporal checkpoints. But how are these spatial and temporal cues integrated to …

Batten disease is a family of rare, lysosomal disorders caused by mutations in one of at least
13 genes, which encode a diverse set of lysosomal and extralysosomal proteins. Despite …

CLN8 disease is a rare form of neuronal ceroid lipofuscinosis caused by biallelic mutations
in the CLN8 gene, which encodes a transmembrane endoplasmic reticulum protein involved …

Batten disease is a family of rare, fatal, neuropediatric diseases presenting with memory/learning
decline, blindness, and loss of motor function. Recently, we reported the use of an …

Introduction: CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder
caused by biallelic disease-associated variants in CLN3. Despite decades of intense …

CLN3 disease, caused by biallelic mutations in the CLN3 gene, is a rare pediatric
neurodegenerative disease that has no cure or disease modifying treatment. The development of …

SEC24 is mainly involved in cargo sorting during COPII vesicle assembly. There are four
SEC24 paralogs (A–D) in vertebrates, which are classified into two subgroups (SEC24A/B and …

Batten disease is unique among lysosomal storage disorders for the early and profound
manifestation in the central nervous system, but little is known regarding potential neuron-…

CLN2 Batten disease is a lysosomal disorder in which pathogenic variants in CLN2 lead to
reduced activity in the enzyme tripeptidyl peptidase 1. The disease typically manifests around …

Mouse models of CLN3 Batten disease, a rare lysosomal storage disorder with no cure, have
improved our understanding of CLN3 biology and therapeutics through their ease of use …