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Metabolic regulation of neurodifferentiation in the adult brain

Cellular and molecular life sciences : CMLS, 2020-07, Vol.77 (13), p.2483-2496

2020

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Genome medicine, 2021-03, Vol.13 (1), p.40-40, Article 40

2021

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Strong purifying selection in transmission of mammalian mitochondrial DNA

PLoS biology, 2008-01, Vol.6 (1), p.e10-e10

2008

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LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

The EMBO journal, 2012-01, Vol.31 (2), p.443-456

2012

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Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

PLoS genetics, 2019-07, Vol.15 (7), p.e1008240-e1008240

2019

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FBXL4 deficiency increases mitochondrial removal by autophagy

EMBO molecular medicine, 2020-07, Vol.12 (7), p.e11659-n/a

2020

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Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation

PLoS genetics, 2016-05, Vol.12 (5), p.e1006028-e1006028

2016

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Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate

Diabetes (New York, N.Y.), 2019-04, Vol.68 (4), p.709-723

2019

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Somatic mtDNA Mutations Cause Aging Phenotypes without Affecting Reactive Oxygen Species Production

Proceedings of the National Academy of Sciences - PNAS, 2005-12, Vol.102 (50), p.17993-17998

2005

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ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing

Nature communications, 2022-09, Vol.13 (1), p.5750-5750, Article 5750

2022

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Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies

Nature communications, 2015-11, Vol.6 (1), p.8808-8808, Article 8808

2015

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SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

Stem cell reports, 2019-04, Vol.12 (4), p.696-711

2019

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MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals

PLoS genetics, 2013-01, Vol.9 (1), p.e1003178-e1003178

2013

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Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

BMC genomics, 2014-12, Vol.15 (1), p.1090-1090

2014

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Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro

STAR protocols, 2021-06, Vol.2 (2), p.100528-100528, Article 100528

2021

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A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

Biomedicines, 2022-12, Vol.10 (12), p.3171

2022

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RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis

Nature communications, 2018-09, Vol.9 (1), p.1-11, Article 3966

2018

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A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

Human molecular genetics, 2017-07, Vol.26 (13), p.2515-2525

2017

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Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.73-73, Article 73

2017

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The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster

PLoS genetics, 2011-10, Vol.7 (10), p.e1002324-e1002324

2011

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PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

NPJ Parkinson's Disease, 2024-04, Vol.10 (1), p.93-93, Article 93

2024

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Increased Mitochondrial Mass in Mitochondrial Myopathy Mice

Proceedings of the National Academy of Sciences - PNAS, 2002-11, Vol.99 (23), p.15066-15071

2002

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Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e654-n/a

2019

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The molecular machinery for maturation of primary mtDNA transcripts

Human molecular genetics, 2024-05, Vol.33 (R1), p.R19-R25

2024

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Metabolic regulation of neurodifferentiation in the adult brain

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Strong purifying selection in transmission of mammalian mitochondrial DNA

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

FBXL4 deficiency increases mitochondrial removal by autophagy

Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation

Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate

Somatic mtDNA Mutations Cause Aging Phenotypes without Affecting Reactive Oxygen Species Production

ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing

Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster

PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

Increased Mitochondrial Mass in Mitochondrial Myopathy Mice

Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations

The molecular machinery for maturation of primary mtDNA transcripts

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