Lysosome‐related organelles (LROs) comprise a diverse group of cell type‐specific,
membrane‐bound subcellular organelles that derive at least in part from the endolysosomal …

Summary The Hermansky–Pudlak syndrome (HPS) is a collection of related autosomal
recessive disorders which are genetically heterogeneous. There are eight human HPS …

Leucine-rich repeat kinase 2 (LRRK2) has been linked to several clinical disorders including
Parkinson's disease (PD), Crohn's disease and leprosy. Furthermore in rodents, LRRK2 …

Idiopathic pulmonary fibrosis (IPF) is a progressive and often fatal lung disease for which
there is no known treatment. Although the traditional paradigm of IPF pathogenesis …

▪ Abstract Surfactant protein C (SP-C) is a hydrophobic 35-amino acid peptide that co-
isolates with the phospholipid fraction of lung surfactant. SP-C represents a structurally and …

Platelet granule exocytosis plays a critical role in thrombosis and wound healing. Platelets
have three major types of secretory granules that are defined by their unique molecular …

Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized
by oculocutaneous albinism and a storage pool deficiency due to an absence of platelet …

Hermansky–Pudlak syndrome (HPS) consists of oculocutaneous albinism, a platelet storage
pool deficiency and, in patients with HPS1 gene mutations, a progressive, fatal pulmonary …

Griscelli syndrome (GS) was diagnosed in a 2-year-old patient with oculocutaneous
albinism and immunodeficiency, but sequencing of RAB27a revealed only a heterozygous …

The covalent attachment of sugars to growing glycan chains is heavily reliant on a specific
family of solute transporters (SLC35), the nucleotide sugar transporters (NSTs) that connect …