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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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The FASTK family proteins fine-tune mitochondrial RNA processing

PLoS genetics, 2021-11, Vol.17 (11), p.e1009873-e1009873

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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Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element

Nucleic acids research, 2015-10, Vol.43 (19), p.9262-9275

2015

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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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Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins

PLoS genetics, 2011-03, Vol.7 (3), p.e1002028-e1002028

2011

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A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

Cell reports (Cambridge), 2016-09, Vol.16 (11), p.2980-2990

2016

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

Nature genetics, 2012-11, Vol.44 (11), p.1282-1285

2012

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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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Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease

Nature reviews. Genetics, 2008-09, Vol.9 (9), p.657-662

2008

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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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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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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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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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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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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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Hierarchical S-adenosylmethionine dependency in mitochondria in heart and skeletal muscle

Biochimica et biophysica acta. Molecular basis of disease, 2024-12, Vol.1870 (8)

2024

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Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

Nature (London), 2013-09, Vol.501 (7467), p.412-415

2013

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TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

Human molecular genetics, 2013-05, Vol.22 (10), p.1983-1993

2013

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No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline

Nucleic acids research, 2014-01, Vol.42 (2), p.1111-1116

2014

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Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Human mutation, 2024, Vol.2024, p.1-16

2024

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Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

Journal of medical genetics, 2015-11, Vol.52 (11), p.779-783

2015

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Metabolic regulation of neurodifferentiation in the adult brain

The FASTK family proteins fine-tune mitochondrial RNA processing

Strong purifying selection in transmission of mammalian mitochondrial DNA

Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element

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

Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

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

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

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

Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals

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

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

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

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

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

The molecular machinery for maturation of primary mtDNA transcripts

Hierarchical S-adenosylmethionine dependency in mitochondria in heart and skeletal muscle

Germline mitochondrial DNA mutations aggravate ageing and can impair brain development

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

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