Evidence map›Paper›PMID 40009365›Full record

ArticleThe Journal of cell biology2025

Centriole structural integrity defects are a crucial feature of hydrolethalus syndrome.

Ana Curinha, Zhaoyu Huang, Taylor Anglen, Margaret A Strong, Colin R Gliech, Cayla E Jewett, Anoek Friskes, Thao P Phan, Zachary Nicholas, Andrew J Holland

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of cell biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Ciliary Membrane Lipid Homeostasis in Health and Disease.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026
    Review
  2. Article
  3. Review
  4. Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025
    Review
  5. Expanding the Phenotypic Spectrum of PathogenicInternational journal of molecular sciences · 2024
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Ana CurinhaDepartment of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0009-0000-5745-1601
Zhaoyu Huang *Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0009-0004-9247-4349
Taylor Anglen *Department of Biomedical Engineering, Duke University, Durham, NC, USA.ORCID 0000-0003-4451-3046
Margaret A StrongDepartment of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-0055-6573
Colin R GliechDepartment of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-5410-1718
Cayla E JewettDepartment of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-8406-0814
Anoek FriskesDivision of Cell Biology, Oncode Institute, The Netherlands Cancer Institute, Amsterdam, Netherlands.ORCID 0000-0002-9845-3715
Thao P PhanDepartment of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0003-0389-7127
Zachary NicholasDepartment of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-7495-4080
Andrew J HollandDepartment of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0003-3728-6367

Funding

Centrosome biogenesis and copy number controlR01GM114119 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI CORMACK, BRENDAN · 2015 to 2023
$3.3M
The role of TRIM37 in driving tumorigenesis and cancer-specific vulnerability to PLK4 inhibitionR01CA266199 · NCI · JOHNS HOPKINS UNIVERSITY · PI Sergi Regot · 2022 to 2026
$2.7M
Molecular mechanism that suppresses the proliferation of cells with supernumerary centriolesR01GM133897 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI CORMACK, BRENDAN · 2019 to 2022
$1.9M
Damon Runyon Cancer Research Foundation DRG-2478-22NCI NIH HHS R01 CA266199NIGMS NIH HHS R01 GM114119NIGMS NIH HHS R01 GM133897NIH HHS R01 GM133897
6 · The paper itself

Abstract

Hydrolethalus syndrome (HLS) is a lethal, autosomal recessive ciliopathy caused by the mutation of the conserved centriole protein HYLS1. How HYLS1 controls centriole function is poorly understood. Here, we show that mice harboring the HYLS1 disease mutation die shortly after birth and exhibit developmental defects that recapitulate several manifestations of HLS. These phenotypes arise from a loss of centriole integrity that causes tissue-specific defects in cilia assembly and function. We show that HYLS1 is recruited to the centriole by CEP120 and stabilizes the localization of centriole inner scaffold proteins that ensure the integrity of the centriolar microtubule wall. The HLS disease mutation reduced the centriole localization of HYLS1 and caused degeneration of the centriole distal end. We propose that tissue-specific defects in centriole integrity caused by the HYLS1 mutation prevent ciliogenesis and contribute to HLS phenotypes.

Indexed as

Abnormalities, MultipleCentriolesKidney Diseases, CysticAnimalsCell Cycle ProteinsCerebellumCiliaEye AbnormalitiesHumansMiceMicrotubule-Associated ProteinsMicrotubulesMutationPhenotypeRetinaCell Cycle ProteinsMicrotubule-Associated Proteins

Identifiers

PMID40009365
PMCPMC11864076

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.