ArticleMolecular biology of the cell2007
BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.
Article in Molecular biology of the cell, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 141 papers.
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Who cites it
141 citing papers in PubMed, 227 citations in OpenAlex.
- SLC16A6 is a tyrosine transporter for the melanosome.bioRxiv : the preprint server for biology · 2026Article
- Endosomes as central hubs of interorganellar communication and cellular homeostasis.Protein & cell · 2026Review
- MFF budding from mitochondria regulates melanosome size and maturation.Nature communications · 2026Article
- QAL333's antitumor activity and predictive modeling: integrated transcriptomic-bioinformatic analysis reveals selective cytotoxicity and sensitivity determinants.Scientific reports · 2026Article
- Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia.Cell death & disease · 2025Article
- Genetic dissection of theMolecular biology of the cell · 2025Article
- Functional and Morphological Plasticity of the Endolysosomal System: Pigment Organelles at the Crossroads of Physiology and Pathology.Biology of the cell · 2025Review
- BLOC-1 and BORC: Complex regulators of endolysosomal dynamics.Cell chemical biology · 2025Review
- Reprogramming of endolysosomes for melanogenesis in BLOC-1-deficient melanocytes.Current biology : CB · 2025Article
- Insights into lysosome-related organelle biogenesis: melanosome as a model organelle.Frontiers in cell and developmental biology · 2025Article
- Case Report: Phenotypic and genetic characterization of a presumptive sporadic hypothalamic hamartoma in a standard Schnauzer dog.Frontiers in veterinary science · 2025Article
- Evolutionary origins of the lysosome-related organelle sorting machinery reveal ancient homology in post-endosome trafficking pathways.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- LYSMD proteins promote activation of Rab32-family GTPases for lysosome-related organelle biogenesis.The Journal of cell biology · 2024Article
- Assembly and fission of tubular carriers mediating protein sorting in endosomes.Nature reviews. Molecular cell biology · 2024Review
- ZNPs reduce epidermal mechanical strain resistance by promoting desmosomal cadherin endocytosis via mTORC1-TFEB-BLOC1S3 axis.Journal of nanobiotechnology · 2024Article
- Recent progresses in the late stages of autophagy.Cell insight · 2024Review
- Neonatal immune challenge poses a sex-specific risk for epigenetic microglial reprogramming and behavioral impairment.Nature communications · 2023Article
- A frame-shift mutation in COMTD1 is associated with impaired pheomelanin pigmentation in chicken.PLoS genetics · 2023Article
- Genetic architecture and evolution of color variation in American black bears.Current biology : CB · 2023Article
- RNA epitranscriptomics dysregulation: A major determinant for significantly increased risk of ASD pathogenesis.Frontiers in neuroscience · 2023Article
81 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by defects in the formation and function of lysosome-related organelles such as melanosomes. HPS in humans or mice is caused by mutations in any of 15 genes, five of which encode subunits of biogenesis of lysosome-related organelles complex (BLOC)-1, a protein complex with no known function. Here, we show that BLOC-1 functions in selective cargo exit from early endosomes toward melanosomes. BLOC-1-deficient melanocytes accumulate the melanosomal protein tyrosinase-related protein-1 (Tyrp1), but not other melanosomal proteins, in endosomal vacuoles and the cell surface due to failed biosynthetic transit from early endosomes to melanosomes and consequent increased endocytic flux. The defects are corrected by restoration of the missing BLOC-1 subunit. Melanocytes from HPS model mice lacking a different protein complex, BLOC-2, accumulate Tyrp1 in distinct downstream endosomal intermediates, suggesting that BLOC-1 and BLOC-2 act sequentially in the same pathway. By contrast, intracellular Tyrp1 is correctly targeted to melanosomes in melanocytes lacking another HPS-associated protein complex, adaptor protein (AP)-3. The results indicate that melanosome maturation requires at least two cargo transport pathways directly from early endosomes to melanosomes, one pathway mediated by AP-3 and one pathway mediated by BLOC-1 and BLOC-2, that are deficient in several forms of HPS.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.