Evidence map›Paper›PMID 42758533›Full record

ArticleeLife2026

Defective neuronal differentiation in Lowe syndrome is associated with mitochondrial dysfunction and impaired cilia-related Sonic Hedgehog signaling.

Grzegorz Walkiewicz, Siyu Chen, Chienhui Lo, Jingyu Zhao, Zhiquan Liu, Biao Wang, Qing Wang, Tia J Kowal, Benjamin Lawson, Yang Sun

Abstract read
In one paragraph

Article in eLife, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Mitochondrial structure and function in OCRL depleted cells.Frontiers in cell and developmental biology · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Grzegorz Walkiewicz *Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, United States.ORCID https://orcid.org/0000-0002-5331-0358
Siyu Chen *Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, United States.ORCID https://orcid.org/0009-0004-9801-4917
Chienhui Lo *Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, United States.
Jingyu ZhaoDepartment of Ophthalmology, Stanford University School of Medicine, Palo Alto, United States.ORCID https://orcid.org/0009-0000-0989-6593
Zhiquan LiuDepartment of Ophthalmology, Stanford University School of Medicine, Palo Alto, United States.ORCID https://orcid.org/0000-0001-5433-5656
Biao WangDepartment of Ophthalmology, Stanford University School of Medicine, Palo Alto, United States.
Qing WangDepartment of Ophthalmology, Stanford University School of Medicine, Palo Alto, United States.
Tia J KowalDepartment of Ophthalmology, Stanford University School of Medicine, Palo Alto, United States.
Benjamin LawsonDepartment of Ophthalmology, Stanford University School of Medicine, Palo Alto, United States.
Yang SunDepartment of Ophthalmology, Stanford University School of Medicine, Palo Alto, United States.ORCID https://orcid.org/0000-0001-8735-4765

Funding

Stanford Vision Research CoreP30EY026877 · NEI · STANFORD UNIVERSITY · PI TIRIN MOORE · 2017 to 2026
$8.0M
The role of primary cilia in glaucoma pathogenesisR01EY025295 · NEI · STANFORD UNIVERSITY · PI Yang Sun · 2016 to 2026
$3.5M
Phosphoinositide signaling in glaucoma: rescue strategies for Lowe syndromeR01EY032159 · NEI · STANFORD UNIVERSITY · PI SUN, YANG · 2021 to 2024
$1.6M
Stanford Ophthalmology Advanced Research ProgramR38EY037090 · NEI · STANFORD UNIVERSITY · PI Yang Sun · 2025 to 2026
$495k
Primary Cilia of Astrocytes in GlaucomaK99EY034932 · NEI · STANFORD UNIVERSITY · PI NING, KE VERONICA · 2023 to 2024
$248k
BLRD VA I01 BX000638CSRD VA I01 CX001481NEI NIH HHS EY-034932NEI NIH HHS K99 EY034932NEI NIH HHS P30 EY026877NEI NIH HHS P30EY026877NEI NIH HHS R01 EY025295NEI NIH HHS R01-EY025295NEI NIH HHS R01 EY032159NEI NIH HHS R38 EY037090NEI NIH HHS R38EY037090NEI NIH HHS RO1-EY32159Veterans Administration, Palo Alto Medical Center BX00638Veterans Administration, Palo Alto Medical Center CX001481
6 · The paper itself

Abstract

Human brain development requires tight coordination of metabolic and signaling pathways. Lowe syndrome (LS) is a recessive X-linked disorder characterized by proximal tubular renal disease, congenital cataracts, glaucoma, and neurodevelopmental delays. While LS results from mutations in the

Indexed as

Cell DifferentiationCiliaHedgehog ProteinsMitochondriaNeuronsOculocerebrorenal SyndromeSignal TransductionAnimalsDisease Models, AnimalHumansMiceMice, KnockoutOxidative StressPhosphoric Monoester HydrolasesZebrafishHedgehog ProteinsPhosphoric Monoester Hydrolasescell biologycilia formationhumanLowe syndromemitochondriamouseneuronal differentiationoxidative stressROSzebrafish

Identifiers

PMID42758533
PMCPMC13588622

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.