Lysosome-related organelles (LROs) are a heterogeneous group of vesicles that share
various features with lysosomes, but are distinct in function, morphology, and composition …

BEACH (named after 'Beige and Chediak‐Higashi') is a conserved∼ 280 residue domain,
present in nine human BEACH domain containing proteins (BDCPs). Most BDCPs are large …

Oculocutaneous albinism (OCA) is a rare genetic disorder of melanin synthesis that results
in hypopigmented hair, skin, and eyes. There are four types of OCA caused by mutations in …

Background Autoinflammatory diseases manifest inflammation without evidence of infection,
high-titer autoantibodies, or autoreactive T cells. We report a disorder caused by mutations …

Background Alkaptonuria, caused by mutations in the HGO gene and a deficiency of
homogentisate 1, 2-dioxygenase, results in an accumulation of homogentisic acid (HGA) …

Intravenous vascular access is technically challenging in the adult mouse and even more
challenging in neonatal mice. The authors describe the technique of retro-orbital injection of …

Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is
characterized by large platelets that lack α-granules. Here we show that mutations in …

Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho–N-
acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result …

In mammals,> 100 genes regulate pigmentation by means of a wide variety of
developmental, cellular, and enzymatic mechanisms. Nevertheless, genes that directly …

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 …