ArticleHuman molecular genetics2016
Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa.
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Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28citing papers in PubMed
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Who cites it
28 citing papers in PubMed, 44 citations in OpenAlex.
- Autophagy disruption and mitochondrial stress precede photoreceptor necroptosis in multiple mouse models of inherited retinal disorders.Nature communications · 2025Article
- Pten Loss Triggers Progressive Photoreceptor Degeneration in an mTORC1-Independent Manner.Investigative ophthalmology & visual science · 2025Article
- Ablating VHL in rod photoreceptors modulates RPE glycolysis and improves preclinical model of retinitis pigmentosa.The Journal of clinical investigation · 2025Article
- Targeting miR-181a/b in retinitis pigmentosa: implications for disease progression and therapy.Cell & bioscience · 2024Article
- Development of TRIB3-Based Therapy as a Gene-Independent Approach to Treat Retinal Degenerative Disorders.International journal of molecular sciences · 2024Article
- CRISPR editing of anti-anemia drug target rescues independent preclinical models of retinitis pigmentosa.Cell reports. Medicine · 2024Article
- Insight into the role of non-coding RNA in the diagnosis and treatment of retinitis pigmentosa.Non-coding RNA research · 2024Review
- Mechanism of Cone Degeneration in Retinitis Pigmentosa.Cellular and molecular neurobiology · 2023Review
- Rod Photoreceptor-Specific Ablation of Metformin Target, AMPK, in a Preclinical Model of Autosomal Recessive Retinitis Pigmentosa.Advances in experimental medicine and biology · 2023Article
- A Modified Arrestin1 Increases Lactate Production in the Retina and Slows Retinal Degeneration.Human gene therapy · 2022Article
- Evaluation of photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients with defects in the EYS gene: a possible cost-effective cellular model for mechanism-oriented drug.Stem cell research & therapy · 2022Article
- Tsc2 knockout counteracts ubiquitin-proteasome system insufficiency and delays photoreceptor loss in retinitis pigmentosa.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Renormalization of metabolic coupling treats age-related degenerative disorders: an oxidative RPE niche fuels the more glycolytic photoreceptors.Eye (London, England) · 2022Review
- Beyond Genetics: The Role of Metabolism in Photoreceptor Survival, Development and Repair.Frontiers in cell and developmental biology · 2022Review
- Metabolomics in Retinal Diseases: An Update.Biology · 2021Review
- Retina Metabolism and Metabolism in the Pigmented Epithelium: A Busy Intersection.Annual review of vision science · 2021Review
- Replenishment of TCA cycle intermediates provides photoreceptor resilience against neurodegeneration during progression of retinitis pigmentosa.JCI insight · 2021Article
- Inhibition of mTOR signaling by rapamycin protects photoreceptors from degeneration inZoological research · 2021Article
- Tribbles homolog 3-mediated targeting the AKT/mTOR axis in mice with retinal degeneration.Cell death & disease · 2021Article
- Review
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Authors and funding
12 authors at 6 institutions in 2 countries.
Lijuan ZhangBarbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology & Cell Biology, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY, USA.
Sally JustusBarbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology & Cell Biology, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY, USA.
Yu XuBarbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology & Cell Biology, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY, USA.
Tamara PluchenikBarbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology & Cell Biology, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY, USA.
Chun-Wei HsuBarbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology & Cell Biology, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY, USA.
Jin YangBarbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology & Cell Biology, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY, USA.
Jimmy K DuongDepartment of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York, USA.
Chyuan-Sheng LinDepartment of Pathology and Cell Biology, Transgenic Animal Facility, Herbert Irving Comprehensive Cancer Center, College of Physicians and Surgeons of Columbia University, New York, NY, USA.
Yading JiaShanxi Eye Hospital, affiliated with Shanxi Medical University, Xinghualing, Taiyuan, Shanxi, China.
Alexander G BassukDepartment of Pediatrics and Neurology, University of Iowa, Iowa City, IA.
Vinit B MahajanOmics Laboratory, University of Iowa, Iowa City, IA, USA.
Stephen H TsangBarbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology & Cell Biology, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY, USA sht2@columbia.edu.
Columbia University · USNewYork–Presbyterian Hospital · USShanxi Medical University · CNUniversity of Iowa · USColumbia University Irving Medical Center · USXinHua Hospital · CN
Funding
Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Parisa Tehranifar · 1985 to 2026
$115.3MInstrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9MToward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6MGene Silencing and Gene Editing in PhototransductionR01EY024698 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2015 to 2026
$4.7MExploring Novel Epilepsy PathwaysR01NS098590 · NINDS · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G · 2016 to 2020
$2.8MStructure and Function of Calpain-5R01EY024665 · NEI · UNIVERSITY OF IOWA · PI MAHAJAN, VINIT B · 2015 to 2019
$1.9MMechanistic Studies on Regenerative Medicine Approaches to Childhood BlindnessR01EY026682 · NEI · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2016 to 2019
$1.6MMechanism-based therapies for photoreceptor degenerationR01EY025225 · NEI · UNIVERSITY OF IOWA · PI MAHAJAN, VINIT B · 2015 to 2018
$1.3MMolecular Genetics of Dominant Neovascular Inflammatory VitreoretinopathyK08EY020530 · NEI · UNIVERSITY OF IOWA · PI MAHAJAN, VINIT B · 2011 to 2015
$1.1MEvaluating GWAS AMD Candidate Loci by Gene Editing in Human iPS CellsR21AG050437 · NIA · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2015 to 2016
$431kNCI NIH HHS P30 CA013696NEI NIH HHS K08 EY020530NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY018213NEI NIH HHS R01 EY024665NEI NIH HHS R01 EY024698NEI NIH HHS R01 EY025225NEI NIH HHS R01 EY026682NIA NIH HHS R21 AG050437NINDS NIH HHS R01 NS098590
Abstract
Retinitis pigmentosa (RP) is an incurable neurodegenerative condition featuring photoreceptor death that leads to blindness. Currently, there is no approved therapeutic for photoreceptor degenerative conditions like RP and atrophic age-related macular degeneration (AMD). Although there are promising results in human gene therapy, RP is a genetically diverse disorder, such that gene-specific therapies would be practical in a small fraction of patients with RP. Here, we explore a non-gene-specific strategy that entails reprogramming photoreceptors towards anabolism by upregulating the mechanistic target of rapamycin (mTOR) pathway. We conditionally ablated the tuberous sclerosis complex 1 (Tsc1) gene, an mTOR inhibitor, in the rods of the Pde6b
Indexed as
AnimalsCell DeathCellular ReprogrammingCone-Rod DystrophiesDisease Models, AnimalHumansMacular DegenerationMetabolismMicePhotoreceptor CellsRetinal Cone Photoreceptor CellsRetinal Rod Photoreceptor CellsRetinitis PigmentosaTOR Serine-Threonine KinasesTuberous Sclerosis Complex 1 ProteinTumor Suppressor ProteinsmTOR protein, mouseTOR Serine-Threonine KinasesTSC1 protein, humanTsc1 protein, mouseTuberous Sclerosis Complex 1 ProteinTumor Suppressor Proteins
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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.