ArticleProceedings of the National Academy of Sciences of the United States of America2001
Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
91 citing papers in PubMed, 255 citations in OpenAlex.
- MLPH/RAB3A accelerates the differentiation of pancreatic stem cells to islet β-cells to control blood glucose in diabetic rats.Organogenesis · 2026Article
- Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.Annals of human genetics · 2025Review
- Role of the RAB27/SYTL Axis in Tumor Microenvironment Construction.Cancer science · 2025Review
- A novel, rapidly progressive ataxia due to a spontaneous Myo5a mutation in mice impairs transport proteins and alters mitochondria.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Melanophilin-induced primary cilia promote pancreatic cancer metastasis.Cell death & disease · 2025Article
- Article
- Selection signatures of wool color in Gangba sheep revealed by genome-wide SNP discovery.BMC genomics · 2024Article
- Melanophilin regulates dendritogenesis in melanocytes for feather pigmentation.Communications biology · 2024Article
- MLPH regulates EMT in pancreatic adenocarcinoma through the PI3K-AKT signaling pathway.Journal of Cancer · 2024Article
- The biochemistry of melanogenesis: an insight into the function and mechanism of melanogenesis-related proteins.Frontiers in molecular biosciences · 2024Review
- The genetic basis of conspicuous coloration in the Guadeloupean anole: Evolution by sexual and ecological selection.Ecology and evolution · 2023Article
- Inhibition of Melanosome Transport by Inducing Exon Skipping in Melanophilin.Biomolecules & therapeutics · 2023Article
- Functional hierarchy among different Rab27 effectors involved in secretory granule exocytosis.eLife · 2023Article
- A Comprehensive Review of Mammalian Pigmentation: Paving the Way for Innovative Hair Colour-Changing Cosmetics.Biology · 2023Review
- A frameshift variant in the melanophilin gene is associated with loss of pigment from shed skin in ball pythons (microPublication biology · 2023Article
- Generation of genome-edited chicken and duck lines by adenovirus-mediated in vivo genome editing.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Identification of a NovelFrontiers in medicine · 2022Article
- Overexpression of MLPH in Rectal Cancer Patients Correlates with a Poorer Response to Preoperative Chemoradiotherapy and Reduced Patient Survival.Diagnostics (Basel, Switzerland) · 2021Article
- In vivo Roles of Rab27 and Its Effectors in Exocytosis.Cell structure and function · 2021Review
- Regulation of Melanophilin (Mlph) gene expression by the glucocorticoid receptor (GR).Scientific reports · 2021Article
31 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The d, ash, and ln coat color mutations provide a unique model system for the study of vesicle transport in mammals. All three mutant loci encode genes that are required for the polarized transport of melanosomes, the specialized, pigment-containing organelles of melanocytes, to the neighboring keratinocytes and eventually into coat hairs. Genetic studies suggest that these genes function in the same or overlapping pathways and are supported by biochemical studies showing that d encodes an actin-based melanosome transport motor, MyoVa, whereas ash encodes Rab27a, a protein that localizes to the melanosome and is postulated to serve as the MyoVa receptor. Here we show that ln encodes melanophilin (Mlph), a previously undescribed protein with homology to Rab effectors such as granuphilin, Slp3-a, and rabphilin-3A. Like all of these effectors, Mlph possesses two Zn(2+)-binding CX(2)CX(13,14)CX(2)C motifs and a short aromatic-rich amino acid region that is critical for Rab binding. However, Mlph does not contain the two Ca(2+)-binding C(2) domains found in these and other proteins involved in vesicle transport, suggesting that it represents a previously unrecognized class of Rab effectors. Collectively, our data show that Mlph is a critical component of the melanosome transport machinery and suggest that Mlph might function as part of a transport complex with Rab27a and MyoVa.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.