Protein folding is inherently error prone, especially in the endoplasmic reticulum (ER). Even
with an elaborate network of molecular chaperones and protein folding facilitators …

Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive
disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes …

High-throughput functional characterization of genetic variants in their endogenous locus
has so far been possible only with methods that rely on homology-directed repair, which are …

Lysosomal cholesterol egress requires two proteins, NPC1 and NPC2, whose defects are
responsible for Niemann-Pick disease type C (NPC). Here, we present systematic structural …

Abstract Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage
disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical …

Ebola virus (EboV) is a highly pathogenic enveloped virus that causes outbreaks of zoonotic
infection in Africa. The clinical symptoms are manifestations of the massive production of pro …

The endoplasmic reticulum (ER) supports biosynthesis of proteins with diverse
transmembrane domain (TMD) lengths and hydrophobicity. Features in transmembrane …

Protein folding is a complex, error-prone process that often results in an irreparable protein
by-product. These by-products can be recognized by cellular quality control machineries …

Niemann-Pick disease type C (NPC) is an atypical lysosomal storage disease resulting from
mutations in one of two genes, either NPC1 or NPC2. Although a neurovisceral disorder, it is …

Summary Niemann-Pick type C (NPC) disease is a fatal inherited lipid storage disorder
causing severe neurodegeneration and liver dysfunction with only limited treatment options …