ArticleiScience2020
Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation.
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Article in iScience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16citing papers in PubMed
1.4field-weighted citation impact, top 19% of its field
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Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Impaired glycosylation promotes rapid transition to hepatocellular carcinoma in model of diet-induced steatotic liver disease.The Journal of clinical investigation · 2026Article
- Article
- Bottlenecks in the Investigation of Retinal Sterol Homeostasis.Biomolecules · 2024Review
- DHDDS and NUS1: A Converging Pathway and Common Phenotype.Movement disorders clinical practice · 2024Review
- Loss of cis-PTase function in the liver promotes a highly penetrant form of fatty liver disease that rapidly transitions to hepatocellular carcinoma.bioRxiv : the preprint server for biology · 2023Article
- A simple, rapid fluorescent reporter-based method for detection of ectopic cre recombinase expression in presumed retinal cell type-targeted mouse lines.Experimental eye research · 2023Article
- A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission.Cell death & disease · 2023Article
- Perspectives on Retinal Dolichol Metabolism, and Visual Deficits in Dolichol Metabolism-Associated Inherited Disorders.Advances in experimental medicine and biology · 2023Review
- Vertebrate Animal Models of RP59: Current Status and Future Prospects.International journal of molecular sciences · 2022Review
- AInternational journal of molecular sciences · 2022Article
- Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants.Molecular genetics and metabolism reports · 2022Article
- Dynamic lipid turnover in photoreceptors and retinal pigment epithelium throughout life.Progress in retinal and eye research · 2022Review
- Monitoring basal autophagy in the retina utilizing CAG-mRFP-EGFP-MAP1LC3B reporter mouse: technical and biological considerations.Autophagy · 2022Article
- Morphological, biochemical, and transcriptomic characterization of iPSC-derived human RPE cells from normal and Smith-Lemli-Opitz syndrome patients.Molecular vision · 2022Article
- Knockdown of Dehydrodolichyl Diphosphate Synthase in theFrontiers in molecular neuroscience · 2021Article
- Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex.Nature communications · 2020Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 2 countries.
Sriganesh Ramachandra RaoDepartment of Ophthalmology/Ross Eye Institute, Jacobs School of Medicine and Biomedical Sciences, State University of New York- University at Buffalo, Buffalo, NY 14209, USA; Research Service, VA Western NY Healthcare System, Buffalo, NY 142015, USA; Department of Biochemistry, Jacobs School of Medicine and Biomedical Sciences, State University of New York- University at Buffalo, Buffalo, NY 14203, USA.
Lara A SkeltonDepartment of Ophthalmology/Ross Eye Institute, Jacobs School of Medicine and Biomedical Sciences, State University of New York- University at Buffalo, Buffalo, NY 14209, USA; Research Service, VA Western NY Healthcare System, Buffalo, NY 142015, USA; Department of Biochemistry, Jacobs School of Medicine and Biomedical Sciences, State University of New York- University at Buffalo, Buffalo, NY 14203, USA.
Fuguo WuDepartment of Ophthalmology/Ross Eye Institute, Jacobs School of Medicine and Biomedical Sciences, State University of New York- University at Buffalo, Buffalo, NY 14209, USA; Department of Biochemistry, Jacobs School of Medicine and Biomedical Sciences, State University of New York- University at Buffalo, Buffalo, NY 14203, USA; New York State Center of Excellence in Bioinformatics and Life Sciences, State University of New York- University at Buffalo, Buffalo, NY 14203, USA.
Agnieszka OnyskInstitute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.
Grzegorz SpolnikInstitute of Organic Chemistry, Polish Academy of Sciences, Warsaw 02106, Poland.
Witold DanikiewiczInstitute of Organic Chemistry, Polish Academy of Sciences, Warsaw 02106, Poland.
Mark C ButlerDepartment of Ophthalmology/Ross Eye Institute, Jacobs School of Medicine and Biomedical Sciences, State University of New York- University at Buffalo, Buffalo, NY 14209, USA; Research Service, VA Western NY Healthcare System, Buffalo, NY 142015, USA.
Delores A StacksDepartment of Optometry and Vision Science, Vision Science Research Center, School of Optometry, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Liliana SurmaczInstitute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.
Xiuqian MuDepartment of Ophthalmology/Ross Eye Institute, Jacobs School of Medicine and Biomedical Sciences, State University of New York- University at Buffalo, Buffalo, NY 14209, USA; Department of Biochemistry, Jacobs School of Medicine and Biomedical Sciences, State University of New York- University at Buffalo, Buffalo, NY 14203, USA; New York State Center of Excellence in Bioinformatics and Life Sciences, State University of New York- University at Buffalo, Buffalo, NY 14203, USA.
Ewa SwiezewskaInstitute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.
Steven J PittlerDepartment of Optometry and Vision Science, Vision Science Research Center, School of Optometry, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Steven J FlieslerDepartment of Ophthalmology/Ross Eye Institute, Jacobs School of Medicine and Biomedical Sciences, State University of New York- University at Buffalo, Buffalo, NY 14209, USA; Research Service, VA Western NY Healthcare System, Buffalo, NY 142015, USA; Department of Biochemistry, Jacobs School of Medicine and Biomedical Sciences, State University of New York- University at Buffalo, Buffalo, NY 14203, USA. Electronic address: fliesler@buffalo.edu.
VA Western New York Healthcare System · USInstitute of Biochemistry and Biophysics, Polish Academy of Sciences · PLInstitute of Organic Chemistry · PLNew York University · USUniversity of Alabama at Birmingham · US
Funding
University of Buffalo Clinical and Translational Science Institute - Supplement SchulyerUL1TR001412 · NCATS · STATE UNIVERSITY OF NEW YORK AT BUFFALO · PI MURPHY, TIMOTHY F · 2015 to 2024
$33.8MVisual Phenotyping CoreP30EY003039 · NEI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI Paul Douglas Gamlin · 1985 to 2026
$16.9MRegulatory mechanisms for retinal ganglion cell genesisR01EY020545 · NEI · STATE UNIVERSITY OF NEW YORK AT BUFFALO · PI Xiuqian Mu · 2011 to 2026
$5.7MDevelopment and characterization of mouse models of RP59 DHDDS deficiencyR01EY029341 · NEI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI FLIESLER, STEVEN J., PITTLER, STEVEN J · 2018 to 2021
$2.2MNCATS NIH HHS UL1 TR001412NEI NIH HHS P30 EY003039NEI NIH HHS R01 EY020545NEI NIH HHS R01 EY029341
Abstract
Dehydrodolichyl diphosphate synthase (DHDDS) catalyzes the committed step in dolichol synthesis. Recessive mutations in DHDDS cause retinitis pigmentosa (RP59), resulting in blindness. We hypothesized that rod photoreceptor-specific ablation of Dhdds would cause retinal degeneration due to diminished dolichol-dependent protein N-glycosylation. Dhdds
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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.