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Article

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.

Journal of cell science - 1 Mar 2023

Shak Caroline, Vuolo Laura, Uddin Borhan, Katoh Yohei, Brown Tom, Mukhopadhyay Aakash G, Heesom Kate, Roberts Anthony J, Stevenson Nicola, Nakayama Kazuhisa, Stephens David J

Abstract excerpt

The primary cilium is a sensory organelle, receiving signals from the external environment and relaying them into the cell. Mutations in proteins required for transport in the primary cilium result in ciliopathies, a group of genetic disorders that commonly lead to the malformation of organs such as the kidney, liver and eyes and skeletal dysplasias. The motor proteins dynein-2 and kinesin-2 mediate retrograde...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36268591
DOI: 10.1242/jcs.260073
PMCID: PMC9687537

Genes

DYNC2I2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2.PMID 36268591Read ↗

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2Semantic proximity Read ↗

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.Semantic proximity Read ↗

Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and functionSemantic proximity Read ↗

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.Semantic proximity Read ↗

Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.Semantic proximity Read ↗

Loss of dynein-2 intermediate chain Wdr34 results in defects in retrograde ciliary protein trafficking and Hedgehog signaling in the mouse.Semantic proximity Read ↗

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.Semantic proximity Read ↗

Ciliary Dyneins and Dynein Related CiliopathiesSemantic proximity Read ↗

Role for the IFT-A Complex in Selective Transport to the Primary Cilium.Semantic proximity Read ↗

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathiesSemantic proximity Read ↗

Ciliopathies: Coloring outside of the lines.Semantic proximity Read ↗

Base editing derived models of human <i>WDR34</i> and <i>WDR60</i> disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transportSemantic proximity Read ↗

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