• Hermansky-Pudlak syndrome (HPS) is caused by homozygous or compound heterozygous mutations in 1 of 11 genes that encode components in one of four protein complexes: adapter protein 3 (AP-3) and biogenesis of lysosome-related organelles complex 1, 2, and 3 (BLOC-1, BLOC-2, and BLOC-3). (giiresearch.com)
  • All four complexes support intracellular biogenesis and trafficking of lysosome and lysosome-related organelles (LROS). (giiresearch.com)
  • Genome mapping of a mutation in corn snakes indicates that vertebrate chromatophore vesicles are lysosome-related organelles. (unige.ch)
  • Melanosomes are morphologically and functionally unique organelles, within which melanin pigments are synthesized, stored, transported and finally transferred to keratinocytes. (medecinesciences.org)
  • These melanosomes synthesize both eumelanin and pheomelanin, distributed to various cells such as keratinocytes (skin cells). (prohealthsite.com)
  • This contact facilitates the transfer of melanin into keratinocytes, via melanosomes. (optoderm.com)
  • Once the melanosomes reach the end of the projections they are squeezed out, into the keratinocytes. (atopiclimited.com)
  • Further studies of melanosome transport will offer a good model to study mammalian organelle trafficking and its key players. (medecinesciences.org)
  • Humans with dark skin pigmentation have skin naturally rich in melanin (especially eumelanin), and have more melanosomes which provide superior protection against the deleterious effects of ultraviolet radiation. (wikipedia.org)
  • Melanosomes leaving the melanocyte as a result of sunburn in the upper epidermis. (atopiclimited.com)
  • The pathophysiology of oculocutaneous albinism involves a reduction in the amount of melanin present in each of the melanosomes. (medscape.com)
  • The amount and distribution of the pigment melanin present in the iris impacts light reflection, such that greater amounts of melanin reflect more wavelengths of light, making eyes appear darker. (britannica.com)
  • In contrast, velocity distributions from simulations displayed a central peak around 100 nm/s, along with two side peaks corresponding to the unloaded kinesin and DDB velocities. (bvsalud.org)
  • The mechanisms by which viruses gain entry into host cells are diverse and include direct penetration through the plasma membrane or endocytic uptake followed by vesicular transport through the cytoplasm and delivery to endosomes and other intracellular organelles [ 2 ]. (biomedcentral.com)
  • Albinism refers to a group of hereditary disorders that involve an abnormality of melanin synthesis or distribution. (medscape.com)
  • Albinism is caused by a disorder of melanin metabolism, and the defect can lie with either melanin synthesis or distribution. (medscape.com)
  • The pathophysiology of ocular albinism is a reduction in the number of melanosomes, although each melanosome may be fully pigmented. (medscape.com)
  • This results in type I oculocutaneous albinism, which is characterized by complete absence of skin and eye pigmentation, despite a normal number of melanosomes. (medscape.com)
  • Intracellular transport is propelled by kinesin and cytoplasmic dynein motors that carry membrane-bound vesicles and organelles bidirectionally along microtubule tracks. (bvsalud.org)
  • Vesicles can also fuse with other organelles within the cell. (wikipedia.org)
  • Their biosynthesis is regulated both spatially and temporally and involves supramolecular templating and compartmentalization of enzymes and reactants within specialized organelles called melanosomes. (tau.ac.il)
  • They fuse with the membrane of the damaged organelle, digesting it. (wikipedia.org)
  • We are providing genetic resources for visualization of organelles such as mitochondria and nucleus. (riken.jp)
  • The melanin containing packets spread out above the nucleus, where they stay, protecting the DNA inside the organelle from harmful UV radiation. (atopiclimited.com)
  • Given the double valence of protein aggregation that can result either in the formation of toxic assemblies or physiologically required organelles, it has long been debated what could determine whether aggregation is beneficial or detrimental from an evolutionary perspective. (frontiersin.org)
  • It took a striped feather for scientists to realise that these 'bacteria' were only present on the black bands and not the white, and that they were in fact melanosomes. (palaeocast.com)
  • LROS include melanosomes, platelet dense bodies (also called delta granules), lamellar bodies of type II pneumocytes, and granule proteins of cytotoxic and suppressor T cells and natural killer (NK) cells. (giiresearch.com)
  • The global Hermansky Pudlak Syndrome market is segmented based on type, therapy type, route of administration, distribution channel and region. (giiresearch.com)
  • Melanosomes had been observed as long ago as the 1980s, but because of their small size and 'sausage' shape, they had presumed to have been bacteria. (palaeocast.com)
  • To investigate this hypothesis, we varied specific model parameters and compared the resulting instantaneous velocity distributions, and we confirmed this systematic investigation using a machine-learning approach that minimized the residual sum of squares between the experimental and simulation velocity distributions. (bvsalud.org)