iPSC–derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function
暂无分享,去创建一个
Marin L. Gantner | Christian M. Metallo | P. Bernstein | M. Bahlo | R. Allikmets | C. Metallo | S. Farashi | B. Ansell | L. Sauer | T. Nagasaki | Simone Tzaridis | Kevin T. Eade | Regis Fallon | Sarah K. Giles | Sarah R. Harkins-Perry | M. Gantner | M. Wallace | Alec Johnson | Barbara Hart | Elizabeth A Mills | Elena D Rubio | Martin Friedlander
[1] R. MacLaren,et al. Retinal cadherins and the retinal cadherinopathies: Current concepts and future directions , 2022, Progress in Retinal and Eye Research.
[2] D. Schorderet,et al. Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography , 2021, Genes.
[3] Christian M. Metallo,et al. Progressive alterations in amino acid and lipid metabolism correlate with peripheral neuropathy in PolgD257A mice , 2021, Science advances.
[4] A. Durr,et al. Implication of folate deficiency in CYP2U1 loss of function , 2021, The Journal of experimental medicine.
[5] Á. Raya,et al. Inborn errors of metabolism: Lessons from iPSC models , 2021, Reviews in Endocrine and Metabolic Disorders.
[6] P. Charbel Issa,et al. Mitochondrial Retinopathy. , 2021, Ophthalmology. Retina.
[7] D. Kang,et al. Mitochondrial CHCHD2: Disease-Associated Mutations, Physiological Functions, and Current Animal Models , 2021, Frontiers in Aging Neuroscience.
[8] Marin L. Gantner,et al. Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease , 2021, Nature Metabolism.
[9] F. Holz,et al. HYPERREFLECTIVITY ON OPTICAL COHERENCE TOMOGRAPHY IN MACULAR TELANGIECTASIA TYPE 2 , 2021, Retina.
[10] L. Tan,et al. Complement activation, lipid metabolism, and mitochondrial injury: Converging pathways in age-related macular degeneration , 2020, Redox biology.
[11] Victoria E. Jackson,et al. Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder , 2020, medRxiv.
[12] J. Dowling,et al. A connectomics approach to understanding a retinal disease , 2020, Proceedings of the National Academy of Sciences.
[13] R. Guymer,et al. Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease , 2020, Scientific Reports.
[14] S. Grillo,et al. Role of Epithelial-Mesenchymal Transition in Retinal Pigment Epithelium Dysfunction , 2020, Frontiers in Cell and Developmental Biology.
[15] M. Gillies,et al. Inhibition of mitochondrial respiration impairs nutrient consumption and metabolite transport in human retinal pigment epithelium , 2020, bioRxiv.
[16] T. Peto,et al. Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression , 2020, bioRxiv.
[17] P. Moudry,et al. Impaired ribosome biogenesis: mechanisms and relevance to cancer and aging , 2019, Aging.
[18] J. Ash,et al. Mitochondrial oxidative stress in the retinal pigment epithelium (RPE) led to metabolic dysfunction in both the RPE and retinal photoreceptors , 2019, Redox biology.
[19] P. Bernstein,et al. Genetic Penetrance of Macular Telangiectasia Type 2 , 2018, JAMA ophthalmology.
[20] P. Charbel Issa,et al. Macular Pigment Distribution as Prognostic Marker for Disease Progression in Macular Telangiectasia Type 2. , 2018, American journal of ophthalmology.
[21] A. Chen-Plotkin,et al. The Post-GWAS Era: From Association to Function. , 2018, American journal of human genetics.
[22] L. Moons,et al. Mitochondrial dysfunction underlying outer retinal diseases. , 2017, Mitochondrion.
[23] Robert W. Taylor,et al. Recent Advances in Mitochondrial Disease. , 2017, Annual review of genomics and human genetics.
[24] Davis J. McCarthy,et al. Common genetic variation drives molecular heterogeneity in human iPSCs , 2017, Nature.
[25] L. Studer,et al. Pluripotent stem cells in neuropsychiatric disorders , 2017, Molecular Psychiatry.
[26] Melanie Bahlo,et al. Genome-wide analyses identify common variants associated with macular telangiectasia type 2 , 2017, Nature Genetics.
[27] Shinya Yamanaka,et al. Induced pluripotent stem cell technology: a decade of progress , 2016, Nature Reviews Drug Discovery.
[28] N. Hattori,et al. Loss of Parkinson's disease-associated protein CHCHD2 affects mitochondrial crista structure and destabilizes cytochrome c , 2016, Nature Communications.
[29] Karen H. Vousden,et al. Serine and one-carbon metabolism in cancer , 2016, Nature Reviews Cancer.
[30] R. Holt,et al. Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy , 2016, Scientific Reports.
[31] D. Renaud,et al. GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings. , 2015, JIMD reports.
[32] S. Dimauro,et al. Mitochondrial diseases , 2016, Nature Reviews Disease Primers.
[33] Maurizio Memo,et al. Using iPS Cells toward the Understanding of Parkinson’s Disease , 2015, Journal of clinical medicine.
[34] Matthew E. Ritchie,et al. limma powers differential expression analyses for RNA-sequencing and microarray studies , 2015, Nucleic acids research.
[35] E. Rodriguez-Boulan,et al. Plasma membrane protein polarity and trafficking in RPE cells: past, present and future. , 2014, Experimental eye research.
[36] Daniel J. Gaffney,et al. Genetic Background Drives Transcriptional Variation in Human Induced Pluripotent Stem Cells , 2014, PLoS genetics.
[37] Wei Shi,et al. featureCounts: an efficient general purpose program for assigning sequence reads to genomic features , 2013, Bioinform..
[38] Charity W. Law,et al. voom: precision weights unlock linear model analysis tools for RNA-seq read counts , 2014, Genome Biology.
[39] Meidong Zhu,et al. Loss of Müller's cells and photoreceptors in macular telangiectasia type 2. , 2013, Ophthalmology.
[40] Marni J. Falk,et al. Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites. , 2013, Molecular genetics and metabolism.
[41] Emily Y. Chew,et al. Macular telangiectasia type 2 , 2013, Progress in Retinal and Eye Research.
[42] Thomas R. Gingeras,et al. STAR: ultrafast universal RNA-seq aligner , 2013, Bioinform..
[43] G. Gyapay,et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. , 2012, American journal of human genetics.
[44] Yang Xu,et al. Using flow cytometry to compare the dynamics of photoreceptor outer segment phagocytosis in iPS-derived RPE cells. , 2012, Investigative ophthalmology & visual science.
[45] Krzysztof Kiryluk,et al. Identification of a Potential Susceptibility Locus for Macular Telangiectasia Type 2 , 2012, PloS one.
[46] Gregory Stephanopoulos,et al. Amplification of phosphoglycerate dehydrogenase diverts glycolytic flux and contributes to oncogenesis , 2012, BMC Proceedings.
[47] Ronald Klein,et al. The prevalence of macular telangiectasia type 2 in the Beaver Dam eye study. , 2010, American journal of ophthalmology.
[48] Cristina Hernández,et al. The Retinal Pigment Epithelium: Something More than a Constituent of the Blood-Retinal Barrier—Implications for the Pathogenesis of Diabetic Retinopathy , 2010, Journal of biomedicine & biotechnology.
[49] Tunde Peto,et al. Baseline Characteristics of Participants in the Natural History Study of Macular Telangiectasia (MacTel) MacTel Project Report No. 2 , 2010, Ophthalmic epidemiology.
[50] Mark D. Robinson,et al. edgeR: a Bioconductor package for differential expression analysis of digital gene expression data , 2009, Bioinform..
[51] J. Kopitz,et al. Apical-to-basolateral transcytosis of photoreceptor outer segments induced by lipid peroxidation products in human retinal pigment epithelial cells. , 2010, Investigative ophthalmology & visual science.
[52] Gideon Rechavi,et al. Directed differentiation of human embryonic stem cells into functional retinal pigment epithelium cells. , 2009, Cell stem cell.
[53] M. Loriot,et al. Xenobiotic-Metabolizing Enzymes and Transporters in the Normal Human Brain: Regional and Cellular Mapping as a Basis for Putative Roles in Cerebral Function , 2009, Drug Metabolism and Disposition.
[54] T. Berendschot,et al. Quantification of reduced macular pigment optical density in the central retina in macular telangiectasia type 2. , 2009, Experimental eye research.
[55] H. Hense,et al. Macular pigment optical density measurement in autofluorescence imaging: comparison of one- and two-wavelength methods , 2006, Graefe's Archive for Clinical and Experimental Ophthalmology.
[56] D. Wallace,et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. , 1988, Science.
[57] T. Johnson. Glutaraldehyde fixation chemistry: oxygen-consuming reactions. , 1987, European journal of cell biology.