Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model. (Q34368460)

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English	Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.	scientific article

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19 February 2020

Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model (English)

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19 February 2020

Human Induced Pluripotent Stem Cells

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19 February 2020

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Riikka H Hämäläinen

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19 February 2020

Tuula Manninen

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19 February 2020

Hanna Koivumäki

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19 February 2020

Timo Otonkoski

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19 February 2020

Anu Suomalainen

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19 February 2020

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3 September 2013

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19 February 2020

Proceedings of the National Academy of Sciences of the United States of America

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19 February 2020

110

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19 February 2020

E3622-30

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19 February 2020

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19 February 2020

describes a project that uses

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11 June 2022

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Induced pluripotent stem cells with a mitochondrial DNA deletion

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6 July 2018

Mouse mtDNA mutant model of Leber hereditary optic neuropathy.

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6 July 2018

Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission

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Rapid mitochondrial DNA segregation in primate preimplantation embryos precedes somatic and germline bottleneck

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Transmitochondrial mice as models for mitochondrial DNA-based diseases

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Mechanisms of mitochondrial diseases

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6 July 2018

Human induced pluripotent stem cells harbor homoplasmic and heteroplasmic mitochondrial DNA mutations while maintaining human embryonic stem cell-like metabolic reprogramming

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Mitochondrial rejuvenation after induced pluripotency

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Mouse models of mitochondrial DNA defects and their relevance for human disease

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6 July 2018

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

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Pathogenic mitochondrial DNA mutations are common in the general population

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A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations

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A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

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6 July 2018

Complex I deficiency in Parkinson's disease frontal cortex

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6 July 2018

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

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6 July 2018

Neurogenic neuroepithelial and radial glial cells generated from six human embryonic stem cell lines in serum-free suspension and adherent cultures.

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6 July 2018

Bovine complex I is a complex of 45 different subunits.

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6 July 2018

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

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6 July 2018

Premature ageing in mice expressing defective mitochondrial DNA polymerase

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6 July 2018

The balbiani body: asymmetry in the mammalian oocyte

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6 July 2018

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

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6 July 2018

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts

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Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

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6 July 2018

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6 July 2018

Fragmentation and partitioning of the Golgi apparatus during mitosis in HeLa cells

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6 July 2018

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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6 July 2018

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

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6 July 2018

Rapid segregation of heteroplasmic bovine mitochondria

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6 July 2018

Unequal partitioning of bovine mitochondrial genotypes among siblings

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6 July 2018

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

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6 July 2018

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

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6 July 2018

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6 July 2018

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation

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6 July 2018

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle

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6 July 2018

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

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6 July 2018

Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

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Clinical features of A3243G mitochondrial tRNA mutation

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Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

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21 January 2018

Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.

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21 January 2018

The senescence-related mitochondrial/oxidative stress pathway is repressed in human induced pluripotent stem cells

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21 January 2018

A Balbiani body and the fusome mediate mitochondrial inheritance during Drosophila oogenesis.

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Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

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Induced pluripotent stem cells generated from diabetic patients with mitochondrial DNA A3243G mutation

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Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.

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21 January 2018

The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells.

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21 January 2018

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation

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Small molecule inhibitors promote efficient generation of induced pluripotent stem cells from human skeletal myoblasts.

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21 January 2018

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

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Population prevalence of the MELAS A3243G mutation.

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27 October 2018

Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies.

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27 October 2018

The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues

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21 January 2018

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

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Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

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12 December 2020

based on heuristic

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Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

1 reference

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12 December 2020

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Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes

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12 December 2020

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Abnormalities of the electron transport chain in idiopathic Parkinson's disease

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Identifiers

10.1073/PNAS.1311660110

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19 February 2020

2013PNAS..110E3622H

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1 reference

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19 February 2020

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19 February 2020

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