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Concise Review: Heteroplasmic Mitochondrial DNA Mutations and Mitochondrial Diseases: Toward iPSC‐Based Disease Modeling, Drug Discovery, and Regenerative Therapeutics

Stem cells (Dayton, Ohio), 2016-04, Vol.34 (4), p.801-808

2016

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Mitochondrial Lon protease regulates mitochondrial DNA copy number and transcription by selective degradation of mitochondrial transcription factor A (TFAM)

Proceedings of the National Academy of Sciences - PNAS, 2010-10, Vol.107 (43), p.18410-18415

2010

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Estimation of the Number of Patients With Mitochondrial Diseases: A Descriptive Study Using a Nationwide Database in Japan

Journal of Epidemiology, 2023/02/05, Vol.33(2), pp.68-75

2023

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CO2-sensitive tRNA modification associated with human mitochondrial disease

Nature communications, 2018-05, Vol.9 (1), p.1-17, Article 1875

2018

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Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice

Nature cell biology, 2009-08, Vol.11 (8), p.958-966

2009

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ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

Human mutation, 2015-02, Vol.36 (2), p.232-239

2015

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COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency

Annals of neurology, 2019-08, Vol.86 (2), p.193-202

2019

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Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial

Journal of neurology, neurosurgery and psychiatry, 2019-05, Vol.90 (5), p.529

2019

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5-HT1A Receptor Agonist Treatment Partially Ameliorates Rett Syndrome Phenotypes in mecp2-Null Mice by Rescuing Impairment of Neuron Transmission and the CREB/BDNF Signaling Pathway

International journal of molecular sciences, 2022-11, Vol.23 (22), p.14025

2022

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Plasma Metabolites Predict Severity of Depression and Suicidal Ideation in Psychiatric Patients-A Multicenter Pilot Analysis

PloS one, 2016-12, Vol.11 (12), p.e0165267-e0165267

2016

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Investigating DNA Methylation of SHATI/NAT8L Promoter Sites in Blood of Unmedicated Patients with Major Depressive Disorder

Biological and Pharmaceutical Bulletin, 2020/07/01, Vol.43(7), pp.1067-1072

2020

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Mitochondrial respiratory dysfunction caused by a heteroplasmic mitochondrial DNA mutation blocks cellular reprogramming

Human molecular genetics, 2015-08, Vol.24 (16), p.4698-4709

2015

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Whole genome sequencing of 45 Japanese patients with intellectual disability

American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1468-1480

2021

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Chemical reversal of abnormalities in cells carrying mitochondrial DNA mutations

Nature chemical biology, 2021-03, Vol.17 (3), p.335

2021

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Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions

Internal Medicine, 2022/02/15, Vol.61(4), pp.547-552

2022

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Hydrogen sulfide increases glutathione production and suppresses oxidative stress in mitochondria

Antioxidants & redox signaling, 2010-01, Vol.12 (1), p.1

2010

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Nervonic acid level in cerebrospinal fluid is a candidate biomarker for depressive and manic symptoms: A pilot study

Brain and behavior, 2021-04, Vol.11 (4), p.e02075-n/a

2021

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Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Brain (London, England : 1878), 2021-06, Vol.144 (5), p.1451-1466

2021

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DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A

Journal of human genetics, 2021-04, Vol.66 (4), p.419-429

2021

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Higd1a is a positive regulator of cytochrome c oxidase

Proceedings of the National Academy of Sciences - PNAS, 2015-02, Vol.112 (5), p.1553-1558

2015

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Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

BMC medical genomics, 2023-03, Vol.16 (1), p.43-43, Article 43

2023

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Plasma Nervonic Acid Is a Potential Biomarker for Major Depressive Disorder: A Pilot Study

The international journal of neuropsychopharmacology, 2018-03, Vol.21 (3), p.207-215

2018

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National Center Biobank Network

Human genome variation, 2022-11, Vol.9 (1), p.38-38, Article 38

2022

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Higd1a improves respiratory function in the models of mitochondrial disorder

The FASEB journal, 2020-01, Vol.34 (1), p.1859-1871

2020

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LOX-1 mediates inflammatory activation of microglial cells through the p38-MAPK/NF-κB pathways under hypoxic-ischemic conditions

Cell communication and signaling, 2023-06, Vol.21 (1), p.126-126, Article 126

2023

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Concise Review: Heteroplasmic Mitochondrial DNA Mutations and Mitochondrial Diseases: Toward iPSC‐Based Disease Modeling, Drug Discovery, and Regenerative Therapeutics

Mitochondrial Lon protease regulates mitochondrial DNA copy number and transcription by selective degradation of mitochondrial transcription factor A (TFAM)

Estimation of the Number of Patients With Mitochondrial Diseases: A Descriptive Study Using a Nationwide Database in Japan

CO2-sensitive tRNA modification associated with human mitochondrial disease

Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice

ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency

Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial

5-HT1A Receptor Agonist Treatment Partially Ameliorates Rett Syndrome Phenotypes in mecp2-Null Mice by Rescuing Impairment of Neuron Transmission and the CREB/BDNF Signaling Pathway

Plasma Metabolites Predict Severity of Depression and Suicidal Ideation in Psychiatric Patients-A Multicenter Pilot Analysis

Investigating DNA Methylation of SHATI/NAT8L Promoter Sites in Blood of Unmedicated Patients with Major Depressive Disorder

Mitochondrial respiratory dysfunction caused by a heteroplasmic mitochondrial DNA mutation blocks cellular reprogramming

Whole genome sequencing of 45 Japanese patients with intellectual disability

Chemical reversal of abnormalities in cells carrying mitochondrial DNA mutations

Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions

Hydrogen sulfide increases glutathione production and suppresses oxidative stress in mitochondria

Nervonic acid level in cerebrospinal fluid is a candidate biomarker for depressive and manic symptoms: A pilot study

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A

Higd1a is a positive regulator of cytochrome c oxidase

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome

Plasma Nervonic Acid Is a Potential Biomarker for Major Depressive Disorder: A Pilot Study

National Center Biobank Network

Higd1a improves respiratory function in the models of mitochondrial disorder

LOX-1 mediates inflammatory activation of microglial cells through the p38-MAPK/NF-κB pathways under hypoxic-ischemic conditions

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