Evidence map›Paper›PMID 39228100›Full record

ArticleGlia2024

Neuronal and glial cell alterations involved in the retinal degeneration of the familial dysautonomia optic neuropathy.

Anastasia Schultz, Henar Albertos-Arranz, Xavier Sánchez Sáez, Jamie Morgan, Diane C Darland, Alejandra Gonzalez-Duarte, Horacio Kaufmann, Carlos E Mendoza-Santiesteban, Nicolás Cuenca, Frances Lefcort

Abstract read
In one paragraph

Article in Glia, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Primary Cilia of Astrocytes in the Retina in Development and Disease.Investigative ophthalmology & visual science · 2026
    Article
  2. ELP1 gene augmentation restores visual function in a mouse model of familial dysautonomia.Molecular therapy : the journal of the American Society of Gene Therapy · 2026
    Article
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Anastasia SchultzDepartment of Microbiology and Cell Biology, Montana State University, Bozeman, Montana, USA.ORCID 0009-0009-6323-8407
Henar Albertos-ArranzDepartment of Physiology, Genetics and Microbiology, University of Alicante, Alicante, Spain.
Xavier Sánchez SáezDepartment of Physiology, Genetics and Microbiology, University of Alicante, Alicante, Spain.
Jamie MorganDepartment of Microbiology and Cell Biology, Montana State University, Bozeman, Montana, USA.
Diane C DarlandDepartment of Biology, University of North Dakota, Grand Forks, North Dakota, USA.ORCID 0000-0001-5567-1889
Alejandra Gonzalez-DuarteDepartment of Neurology, NYU Langone Health, New York, New York, USA.
Horacio KaufmannDepartment of Neurology, NYU Langone Health, New York, New York, USA.
Carlos E Mendoza-SantiestebanDepartment of Neurology, NYU Langone Health, New York, New York, USA.
Nicolás CuencaDepartment of Physiology, Genetics and Microbiology, University of Alicante, Alicante, Spain.
Frances LefcortDepartment of Microbiology and Cell Biology, Montana State University, Bozeman, Montana, USA.

Funding

Therapeutic strategies for mitigating loss of retinal ganglion cells in familial dysautonomiaR21EY031130 · NEI · MONTANA STATE UNIVERSITY - BOZEMAN · PI LEFCORT, FRANCES, MORINI, ELISABETTA · 2020 to 2021
$436k
Familial Dysautonomia FoundationNEI NIH HHS R21EY031130NIH_COBRE on Epigenomics of Development and Disease 4P20GM104360-05
6 · The paper itself

Abstract

Familial dysautonomia (FD) is a rare genetic neurodevelopmental and neurodegenerative disorder. In addition to the autonomic and peripheral sensory neuropathies that challenge patient survival, one of the most debilitating symptoms affecting patients' quality of life is progressive blindness resulting from the steady loss of retinal ganglion cells (RGCs). Within the FD community, there is a concerted effort to develop treatments to prevent the loss of RGCs. However, the mechanisms underlying the death of RGCs are not well understood. To study the mechanisms underlying RGC death, Pax6-cre;Elp1

Indexed as

Dysautonomia, FamilialNeurogliaOptic Nerve DiseasesRetinal DegenerationAnimalsFemaleGliosisHumansMaleMiceMice, Inbred C57BLMice, TransgenicNeuronsRetinaRetinal Ganglion Cellscell stressfamilial dysautonomianeurovascular unitoptic neuropathyretinaretinal ganglion cells

Identifiers

PMID39228100
PMCPMC13058898

What OpenQuestion holds

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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.