ArticleThe Journal of investigative dermatology2015
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
Article in The Journal of investigative dermatology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 37 citations in OpenAlex.
- Geroderma Osteodysplastica in Two Patients: Clinical, Genetic, and Management Insights.Journal of medical cases · 2026Article
- Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects.Communications biology · 2026Article
- Article
- A manually curated gene-phenotype catalogue for progeroid syndromes and premature aging.Aging · 2026Article
- Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1-mediated P53 ubiquitination.Animal models and experimental medicine · 2026Article
- The Functions of RAB GTPases at the Golgi Complex.Sub-cellular biochemistry · 2026Review
- Arfs on the Golgi: four conductors, one orchestra.Frontiers in molecular biosciences · 2025Review
- Vimentin intermediate filaments provide structural stability to the mammalian Golgi complex.Journal of cell science · 2023Article
- Arf5-mediated regulation of mTORC1 at the plasma membrane.Molecular biology of the cell · 2023Article
- The factory, the antenna and the scaffold: the three-way interplay between the Golgi, cilium and extracellular matrix underlying tissue function.Biology open · 2023Review
- A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings.Global medical genetics · 2022Article
- Potential stress tolerance roles of barley germins and GLPs.Development genes and evolution · 2021Article
- An RNA tagging approach for system-wide RNA-binding proteome profiling and dynamics investigation upon transcription inhibition.Nucleic acids research · 2021Article
- The dimeric Golgi protein Gorab binds to Sas6 as a monomer to mediate centriole duplication.eLife · 2021Article
- The Close Relationship between the Golgi Trafficking Machinery and Protein Glycosylation.Cells · 2020Review
- GORAB promotes embryonic lung maturation through antagonizing AKT phosphorylation, versican expression, and mesenchymal cell migration.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation.Nature communications · 2019Article
- Gorab is a Golgi protein required for structure and duplication of Drosophila centrioles.Nature genetics · 2018Article
- Article
- Examining tissue composition, whole-bone morphology and mechanical behavior of GorabJournal of biomechanics · 2017Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
Abstract
Gerodermia osteodysplastica is a hereditary segmental progeroid disorder affecting skin, connective tissues, and bone that is caused by loss-of-function mutations in GORAB. The golgin, RAB6-interacting (GORAB) protein localizes to the Golgi apparatus and interacts with the small GTPase RAB6. In this study, we used different approaches to shed more light on the recruitment of GORAB to this compartment. We show that GORAB best colocalizes with trans-Golgi markers and is rapidly displaced upon Brefeldin A exposition, indicating a loose association with Golgi membranes. A yeast two-hybrid screening revealed a specific interaction with the small GTPase ADP-ribosylation factor (ARF5) in its active, GTP-bound form. ARF5 and RAB6 bind to GORAB via the same internal Golgi-targeting RAB6 and ARF5 binding (IGRAB) domain. Two GORAB missense mutations identified in gerodermia osteodysplastica patients fall within this IGRAB domain. GORAB carrying the mutation p.Ala220Pro had a cytoplasmic distribution and failed to interact with both RAB6 and ARF5. In contrast, the p.Ser175Phe mutation displaced GORAB from the Golgi compartment to vesicular structures and selectively impaired ARF5 binding. Our findings indicate that the IGRAB domain is crucial for the Golgi localization of GORAB and that loss of this localization impairs its physiological function.
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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.