Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation
出版年份 2017 全文链接
标题
Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation
作者
关键词
-
出版物
Scientific Reports
Volume 7, Issue 1, Pages -
出版商
Springer Nature
发表日期
2017-09-20
DOI
10.1038/s41598-017-12396-2
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- Autophagy Regulates Proteasome Inhibitor-Induced Pigmentation in Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells
- (2017) Kati Juuti-Uusitalo et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- A neurodegenerative perspective on mitochondrial optic neuropathies
- (2016) Patrick Yu-Wai-Man et al. ACTA NEUROPATHOLOGICA
- Mitochondrial resetting and metabolic reprogramming in induced pluripotent stem cells and mitochondrial disease modeling
- (2016) Yi-Chao Hsu et al. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
- Mitochondrial elongation in the macular RPE of aging monkeys, evidence of metabolic stress
- (2016) Peter Gouras et al. GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
- Repressed SIRT1/PGC-1α pathway and mitochondrial disintegration in iPSC-derived RPE disease model of age-related macular degeneration
- (2016) Nady Golestaneh et al. Journal of Translational Medicine
- The phenotypic spectrum of fifty Czech m.3243A>G carriers
- (2016) V. Dvorakova et al. MOLECULAR GENETICS AND METABOLISM
- Ophthalmological findings in 74 patients with mitochondrial disease
- (2016) Cheng-Cheng Zhu et al. OPHTHALMIC GENETICS
- Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
- (2015) Gráinne S. Gorman et al. ANNALS OF NEUROLOGY
- Mitochondrial respiratory dysfunction caused by a heteroplasmic mitochondrial DNA mutation blocks cellular reprogramming
- (2015) Mutsumi Yokota et al. HUMAN MOLECULAR GENETICS
- Investigating Mitochondria as a Target for Treating Age-Related Macular Degeneration
- (2015) M. R. Terluk et al. JOURNAL OF NEUROSCIENCE
- Mitochondrial and Metabolic Remodeling During Reprogramming and Differentiation of the Reprogrammed Cells
- (2015) Hyun Woo Choi et al. STEM CELLS AND DEVELOPMENT
- Impaired respiratory function in MELAS-induced pluripotent stem cells with high heteroplasmy levels
- (2015) Masaki Kodaira et al. FEBS Open Bio
- Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNATrp
- (2015) Hideyuki Hatakeyama et al. Acta Neuropathologica Communications
- A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs
- (2014) T. Suzuki et al. NUCLEIC ACIDS RESEARCH
- Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature
- (2014) Alejandra Daruich et al. BMC Ophthalmology
- Engineering Efficient Retinal Pigment Epithelium Differentiation From Human Pluripotent Stem Cells
- (2014) Amelia Lane et al. Stem Cells Translational Medicine
- Autophagy and heterophagy dysregulation leads to retinal pigment epithelium dysfunction and development of age-related macular degeneration
- (2013) Kai Kaarniranta et al. Autophagy
- Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs
- (2013) Sandra R Bacman et al. NATURE MEDICINE
- Mitochondrial Retinal Dystrophy Associated with the m.3243A>G Mutation
- (2013) Paul de Laat et al. OPHTHALMOLOGY
- Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: A Genome-Wide Association Study Meta-Analysis
- (2013) Elizabeth G. Holliday et al. PLoS One
- Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model
- (2013) R. H. Hamalainen et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Disease-Causing Mitochondrial Heteroplasmy Segregated Within Induced Pluripotent Stem Cell Clones Derived from a Patient with MELAS
- (2013) Clifford D.L. Folmes et al. STEM CELLS
- Induced Pluripotent Stem Cells with a Mitochondrial DNA Deletion
- (2013) Anne B. C. Cherry et al. STEM CELLS
- Induced pluripotent stem cells generated from diabetic patients with mitochondrial DNA A3243G mutation
- (2012) J. Fujikura et al. DIABETOLOGIA
- Understanding age-related macular degeneration (AMD): Relationships between the photoreceptor/retinal pigment epithelium/Bruch’s membrane/choriocapillaris complex
- (2012) Imran Bhutto et al. MOLECULAR ASPECTS OF MEDICINE
- Somatic Oxidative Bioenergetics Transitions into Pluripotency-Dependent Glycolysis to Facilitate Nuclear Reprogramming
- (2011) Clifford D.L. Folmes et al. Cell Metabolism
- The metabolome of induced pluripotent stem cells reveals metabolic changes occurring in somatic cell reprogramming
- (2011) Athanasia D Panopoulos et al. CELL RESEARCH
- A novel melano-lysosome in the retinal epithelium of rhesus monkeys
- (2011) Peter Gouras et al. EXPERIMENTAL EYE RESEARCH
- Screening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage
- (2011) NATURE BIOTECHNOLOGY
- Chloroquine treatment of ARPE-19 cells leads to lysosome dilation and intracellular lipid accumulation: possible implications of lysosomal dysfunction in macular degeneration
- (2011) Patrick M Chen et al. Cell and Bioscience
- The Retinal Pigment Epithelium in Health and Disease
- (2010) J. R. Sparrrow et al. CURRENT MOLECULAR MEDICINE
- Causes of blind and partial sight certifications in England and Wales: April 2007–March 2008
- (2010) C Bunce et al. EYE
- mTOR-mediated dedifferentiation of the retinal pigment epithelium initiates photoreceptor degeneration in mice
- (2010) Chen Zhao et al. JOURNAL OF CLINICAL INVESTIGATION
- Phagocytosis of Retinal Rod and Cone Photoreceptors
- (2010) Brian M. Kevany et al. PHYSIOLOGY
- Ophthalmological findings in children and young adults with genetically verified mitochondrial disease
- (2009) M A Gronlund et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- SLP-2 is required for stress-induced mitochondrial hyperfusion
- (2009) Daniel Tondera et al. EMBO JOURNAL
- The Age Lipid A2E and Mitochondrial Dysfunction Synergistically Impair Phagocytosis by Retinal Pigment Epithelial Cells
- (2008) Cristofol Vives-Bauza et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Human embryonic stem cells reveal recurrent genomic instability at 20q11.21
- (2008) Nathalie Lefort et al. NATURE BIOTECHNOLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreDiscover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversation