ArticleNature genetics2008
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Article in Nature genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.
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Who cites it
79 citing papers in PubMed, 157 citations in OpenAlex.
- Geroderma Osteodysplastica in Two Patients: Clinical, Genetic, and Management Insights.Journal of medical cases · 2026Article
- Article
- 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
- Review
- Article
- Targeting TGF-β signaling, oxidative stress, and cellular senescence rescues osteoporosis in gerodermia osteodysplastica.Aging cell · 2024Article
- Review
- Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review.Case reports in genetics · 2024Article
- Rab6-mediated retrograde trafficking from the Golgi: the trouble with tubules.Small GTPases · 2023Review
- Orthognathic Surgery with Interdisciplinary Digital Planning in Patients with Geroderma Osteodysplasticum: A Case Report.Journal of personalized medicine · 2023Article
- Vimentin intermediate filaments provide structural stability to the mammalian Golgi complex.Journal of cell science · 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
- mTORC1 controls Golgi architecture and vesicle secretion by phosphorylation of SCYL1.Nature communications · 2022Article
- A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings.Global medical genetics · 2022Article
- Supply chain logistics - the role of the Golgi complex in extracellular matrix production and maintenance.Journal of cell science · 2022Review
- Potential stress tolerance roles of barley germins and GLPs.Development genes and evolution · 2021Article
- Review
- The role of the Golgi apparatus in disease (Review).International journal of molecular medicine · 2021Review
- The dimeric Golgi protein Gorab binds to Sas6 as a monomer to mediate centriole duplication.eLife · 2021Article
19 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
26 authors at 17 institutions in 6 countries.
Funding
Abstract
Gerodermia osteodysplastica is an autosomal recessive disorder characterized by wrinkly skin and osteoporosis. Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts. The protein localizes to the Golgi apparatus and interacts with Rab6, identifying SCYL1BP1 as a golgin. These results associate abnormalities of the secretory pathway with age-related changes in connective tissues.
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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.