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September 10, 2025Frontiers in Molecular BiosciencesOpen Access

Proteomic and structural comparison between cilia from primary ciliary dyskinesia patients with a DNAH5 defect

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Authors

CCCharlotte de Ceuninck van CapelleLLLeo LuoALAlexander Leitner

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Overview

Analysis of axonemal composition reveals mutation-specific changes in cilia from PCD patients, highlighting clinical heterogeneity.

Key Points

  • Mutations in dnah5 lead to varied alterations in axonemal composition of motile cilia in PCD patients.
  • Analysis showed specific reductions in ciliary components and the presence of novel proteins like VWA3B.
  • Mass spectrometry and cryo-electron tomography were employed to assess the structural organization of the cilia.
  • Findings indicate a mutation-specific impact on ciliary composition, enhancing understanding of PCD pathogenesis.

Cite This Study

Capelle et al. (2025) studied this question.

synapsesocial.com/papers/68c19f7f54b1d3bfb60dacb7https://doi.org/10.3389/fmolb.2025.1593810
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Factors influencing age at diagnosis of primary ciliary dyskinesia in European children2010 · 375 citations
  2. 2CiliaCarta: An integrated and validated compendium of ciliary genes2019 · 181 citations
  3. 3Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia2005 · 317 citations
  4. 4European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia2016 · 723 citations