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Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.

Cells - 15 Jul 2024

Wilken Alina, Höben Inga Marlena, Wolter Alexander, Loges Niki Tomas, Olbrich Heike, Aprea Isabella, Dworniczak Bernd, Raidt Johanna, Omran Heymut

Abstract excerpt

Disease-causing bi-allelic DNA variants in CCDC39 and CCDC40 are frequent causes of the hereditary disorder of primary ciliary dyskinesia (PCD). The encoded proteins form a molecular ruler complex, crucial for maintaining the 96 nm repeat units along the ciliary axonemes. Defects of those proteins cause a stiff, rapid, and flickery ciliary beating pattern, recurrent respiratory infections, axonemal...

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Axonemal Dyneins
Axoneme
Cilia
Ciliary Motility Disorders
Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39056782
DOI: 10.3390/cells13141200
PMCID: PMC11274998

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Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.PMID 39056782Read ↗

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