ArticleCell reports. Medicine2024
CRISPR editing of anti-anemia drug target rescues independent preclinical models of retinitis pigmentosa.
Open access · goldAbstract read
In one paragraph
Article in Cell reports. Medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
2.8field-weighted citation impact, top 9% of its field
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.
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.
Who cites it
18 citing papers in PubMed, 12 citations in OpenAlex.
- Redox imbalance dictates dependence on GOT1 versus GOT2 for rod photoreceptor health during aging and stress.Redox biology · 2026Article
- Comparative Analysis of Retinal Structure and Function in Female Carriers of Choroideremia and X-Linked Retinitis Pigmentosa.Translational vision science & technology · 2026Article
- Intra-mitochondrial glycolysis maintains mitochondrial function and underlies the pathogenesis of retinitis pigmentosa.Nature communications · 2026Article
- Redox imbalance dictates dependence on GOT1 versus GOT2 for rod photoreceptor health during aging and stress.bioRxiv : the preprint server for biology · 2026Article
- Diagnostic Role of Chromatic Full-Field Stimulus Test in Rod-Cone Versus Cone Dystrophies.Biomedicines · 2026Article
- Review
- A novel multiplex RNAi therapy simultaneously targets Hif1a and Hif2a to defy retinal degeneration in two models of AMD.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Clinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort.Medical sciences (Basel, Switzerland) · 2026Article
- Advancements in CRISPR-based therapies for ocular pathologies: from disease mechanisms to intervention strategies.Theranostics · 2026Review
- Article
- HIF1 activity in photoreceptors drives type 3 neovascularization and retinal atrophy in a new mouse model of age-related macular degeneration.Cell death & disease · 2025Article
- Article
- A Novel, Long-Acting, Small Molecule PKM2 Activator and Its Potential Broad Application Against Photoreceptor Degeneration.Translational vision science & technology · 2025Article
- miR-429 RNA therapy as generic strategy to protect against photoreceptor loss.Molecular therapy. Nucleic acids · 2025Article
- Ablating VHL in rod photoreceptors modulates RPE glycolysis and improves preclinical model of retinitis pigmentosa.The Journal of clinical investigation · 2025Article
- Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives.Pharmaceutics · 2025Review
- Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease.Investigative ophthalmology & visual science · 2024Article
- Optogenetics and Targeted Gene Therapy for Retinal Diseases: Unravelling the Fundamentals, Applications, and Future Perspectives.Journal of clinical medicine · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 5 institutions in 2 countries.
Nicholas D NolanJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA; Department of Biomedical Engineering, Columbia University, New York, NY 10027, USA; Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.
Xuan CuiJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA; Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.
Brian M RobbingsDepartment of Biochemistry, The University of Washington, Seattle, WA 98195, USA; Diabetes Institute, The University of Washington, Seattle, WA 98195, USA.
Aykut DemirkolJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA; Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA; Vocational School of Health Services, Uskudar University, 34672 Istanbul, Turkey.
Kriti PandeyDepartment of Biochemistry, The University of Washington, Seattle, WA 98195, USA.
Wen-Hsuan WuJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA; Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.
Hannah F HuJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA; Department of Biomedical Engineering, Columbia University, New York, NY 10027, USA; Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.
Laura A JennyJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA; Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.
Chyuan-Sheng LinHerbert Irving Comprehensive Cancer Center, Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY 10032, USA; Departments of Ophthalmology, Pathology & Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY 10032, USA.
Daniel T HassDepartment of Biochemistry, The University of Washington, Seattle, WA 98195, USA.
Jianhai DuDepartment of Ophthalmology and Visual Sciences, West Virginia University, Morgantown, WV 26506, USA; Department of Biochemistry and Molecular Medicine, West Virginia University, Morgantown, WV 26501, USA.
James B HurleyDepartment of Biochemistry, The University of Washington, Seattle, WA 98195, USA. Electronic address: jbhhh@uw.edu.
Stephen H TsangJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Institute of Human Nutrition, Columbia Stem Cell Initiative, New York, NY 10032, USA; Department of Biomedical Engineering, Columbia University, New York, NY 10027, USA; Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA; Departments of Ophthalmology, Pathology & Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: sht2@columbia.edu.
NewYork–Presbyterian Hospital · USUniversity of Washington · USColumbia University Irving Medical Center · USÜsküdar University · TRWest Virginia University · US
Funding
Instrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9MTherapeutic gene editing and multimodal imaging in juvenile macular degeneration R24EY028758 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI AUDO , ISABELLE, SPARROW, JANET RUTHE · 2020 to 2024
$10.9MThe Jackson Laboratory Center for Precision Genetics: From New Models to Novel TherapeuticsU54OD020351 · OD · JACKSON LABORATORY · PI BLAKE, JUDITH A · 2015 to 2019
$10.2MROD AND CONE RESPONSE CHARACTERISTICSR01EY006641 · NEI · UNIVERSITY OF WASHINGTON · PI JAMES Bryant HURLEY · 1986 to 2026
$10.2MTranslational Gene Therapy for CNGB1 Retinitis PigmentosaR24EY027285 · NEI · MICHIGAN STATE UNIVERSITY · PI HAUSWIRTH, WILLIAM W, MICHALAKIS, STYLIANOS · 2018 to 2022
$8.6MToward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6MControl of Photoreceptor MetabolismR01EY017863 · NEI · UNIVERSITY OF WASHINGTON · PI JAMES Bryant HURLEY · 2007 to 2026
$6.4MGene Silencing and Gene Editing in PhototransductionR01EY024698 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2015 to 2026
$4.7MMetabolic dysfunction from ECM remodeling in diseases of human RPER01EY034364 · NEI · UNIVERSITY OF WASHINGTON · PI Jennifer Rayming Chao, Jianhai Du · 2022 to 2026
$2.8MEnhancing cone survival in retinitis pigmentosa through cell-specific therapeutic CRISPR editing of a roxadustat targetR01EY033770 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI JAMES Bryant HURLEY, Stephen H Tsang · 2022 to 2026
$2.6MRegulators of retinal metabolism in healthy and degenerating retinasR01EY031720 · NEI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI ASH, JOHN D, DU, JIANHAI · 2020 to 2024
$2.4MRetinal Mitochondrial Metabolism in Alzheimer's DiseaseR01EY031324 · NEI · WEST VIRGINIA UNIVERSITY · PI DU, JIANHAI · 2021 to 2024
$2.0MNEI NIH HHS F31 EY033660NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY006641NEI NIH HHS R01 EY017863NEI NIH HHS R01 EY018213NEI NIH HHS R01 EY024698NEI NIH HHS R01 EY031324NEI NIH HHS R01 EY031720NEI NIH HHS R01 EY032462NEI NIH HHS R01 EY033770NEI NIH HHS R01 EY034364NEI NIH HHS R24 EY027285NEI NIH HHS R24 EY028758NEI NIH HHS U01 EY030580NIA NIH HHS R21 AG050437NIH HHS U54 OD020351
Abstract
Retinitis pigmentosa (RP) is one of the most common forms of hereditary neurodegeneration. It is caused by one or more of at least 3,100 mutations in over 80 genes that are primarily expressed in rod photoreceptors. In RP, the primary rod-death phase is followed by cone death, regardless of the underlying gene mutation that drove the initial rod degeneration. Dampening the oxidation of glycolytic end products in rod mitochondria enhances cone survival in divergent etiological disease models independent of the underlying rod-specific gene mutations. Therapeutic editing of the prolyl hydroxylase domain-containing protein gene (PHD2, also known as Egln1) in rod photoreceptors led to the sustained survival of both diseased rods and cones in both preclinical autosomal-recessive and dominant RP models. Adeno-associated virus-mediated CRISPR-based therapeutic reprogramming of the aerobic glycolysis node may serve as a gene-agnostic treatment for patients with various forms of RP.
Indexed as
Retinal Rod Photoreceptor CellsRetinitis PigmentosaAnimalsDisease Models, AnimalHumansRetinal Cone Photoreceptor CellsAAVCRISPRgene therapyglycolysishypoxia inducible factormetabolic reprogrammingprolyl hydroxylaserejuvenationretinal degenerationtherapeutic editing
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
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.