ArticleProceedings of the National Academy of Sciences of the United States of America2003
The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
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Who cites it
56 citing papers in PubMed, 122 citations in OpenAlex.
- Identification and Validation of programmed cell death-related biomarkers in Osteoarthritis and an Exploratory Pan-Cancer Analysis: SHARPIN as a Potential Biomarker.Clinical rheumatology · 2026Article
- Article
- Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?International journal of molecular sciences · 2024Review
- Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.Cells · 2022Review
- Melanosome Biogenesis in the Pigmentation of Mammalian Skin.Integrative and comparative biology · 2021Review
- Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.EMBO molecular medicine · 2021Article
- Advances in Genetic Engineering Technology and Its Application in the Industrial FungusFrontiers in microbiology · 2021Review
- Mucopolysaccharidosis-Plus Syndrome.International journal of molecular sciences · 2020Article
- Mechanism of platelet α-granule biogenesis: study of cargo transport and the VPS33B-VPS16B complex in a model system.Blood advances · 2019Article
- The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.Traffic (Copenhagen, Denmark) · 2019Review
- Sorting machineries: how platelet-dense granules differ from α-granules.Bioscience reports · 2018Review
- VPS18 recruits VPS41 to the human HOPS complex via a RING-RING interaction.The Biochemical journal · 2017Article
- The ins and outs of endocytic trafficking in platelet functions.Current opinion in hematology · 2017Review
- Review
- ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination.Immunity · 2016Article
- Emerging Insights into the Roles of Membrane Tethers from Analysis of Whole Organisms: The Tip of an Iceberg?Frontiers in cell and developmental biology · 2016Review
- Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity.The Journal of biological chemistry · 2015Article
- Article
- Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes.Traffic (Copenhagen, Denmark) · 2015Article
- Impairment of autophagosome-lysosome fusion in the buff mutant mice with the VPS33A(D251E) mutation.Autophagy · 2015Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
In the mouse, more than 16 loci are associated with mutant phenotypes that include defective pigmentation, aberrant targeting of lysosomal enzymes, prolonged bleeding, and immunodeficiency, the result of defective biogenesis of cytoplasmic organelles: melanosomes, lysosomes, and various storage granules. Many of these mouse mutants are homologous to the human Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome, and Griscelli syndrome. We have mapped and positionally cloned one of these mouse loci, buff (bf), which has a mutant phenotype similar to that of human HPS. Mouse bf results from a mutation in Vps33a and thus is homologous to the yeast vacuolar protein-sorting mutant vps33 and Drosophila carnation (car). This is the first found defect of the class C vacuole/prevacuole-associated target soluble N-ethylmaleimide-sensitive factor attachment protein receptor (t-SNARE) complex in mammals and the first mammalian mutant found that is directly homologous to a vps mutation of yeast. VPS33A thus is a good candidate gene for a previously uncharacterized form of human 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.