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Article

The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.

Tissue & cell - 1 Jun 2020

Alfieri Mariaevelina, Iaconis Daniela, Tammaro Roberta, Perone Lucia, Calì Gaetano, Nitsch Lucio, Dougherty Gerard W, Ragnini-Wilson Antonella, Franco Brunella

Abstract excerpt

Oral-Facial-Digital type I (OFD1) is a rare inherited form of renal cystic disease associated with ciliary dysfunction. This disorder is due to mutations in the OFD1 gene that encodes a protein localized to centrosomes and basal bodies in different cell types. Immunofluorescence analysis demonstr...

Topics

Aneuploidy
Animals
Basal Bodies
Cell Cycle
Cell Line
Cell Nucleus
Centrosome
Cilia
Cytoskeleton
Fibroblasts
Humans
Microtubule-Organizing Center

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Orofaciodigital Syndromes

Primary Cell Culture

Proteins

Source

Identifiers

PMID: 32473706
DOI: 10.1016/j.tice.2020.101369

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-32473706-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression.PMID 32473706Read ↗

The molecular basis of oral-facial-digital syndrome, type 1.Semantic proximity Read ↗

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.Semantic proximity Read ↗

The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targetsSemantic proximity Read ↗

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.Semantic proximity Read ↗

The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells.Semantic proximity Read ↗

OFD Type I syndrome: lessons learned from a rare ciliopathy.Semantic proximity Read ↗

OFD1: One gene, several disorders.Semantic proximity Read ↗

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.Semantic proximity Read ↗

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Semantic proximity Read ↗

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.Semantic proximity Read ↗

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.Semantic proximity Read ↗

IK is essentially involved in ciliogenesis as an upstream regulator of oral-facial-digital syndrome ciliopathy gene,ofd1Semantic proximity Read ↗

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