Yu-ichi Goto

Tsutomu Suzuki, K. Shinzawa-Itoh, Y. Nishida, 2020, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Profiles of blood biomarkers in alternating hemiplegia of childhood – Increased MMP-9 and decreased substance P indicates its pathophysiology

Yu‐ichi Goto, M. Sasaki, Yoshiaki Saito, 2012, Brain and Development.

Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: Comparison with the phenotype and the proportion of mutant genome

I. Nonaka, M. Ozawa, Yu-ichi Goto, 1998, Journal of the Neurological Sciences.

A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom

I. Nonaka, Y. Hayashi, Yu‐ichi Goto, 1995, Brain and Development.

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

J. Hayashi, I. Nonaka, A. Ogura, 2000, Nature Genetics.

Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy

Y. Katsumi, I. Nonaka, N. Murakami, 1995, Neuromuscular Disorders.

Apoptosis is suspended in muscle of mitochondrial encephalomyopathies

M. Nakagawa, J. Kira, I. Nonaka, 2002, Acta Neuropathologica.

MARINESCO‐SJOGREN SYNDROME: CAN THE DIAGNOSIS BE MADE PRIOR TO CATARACT FORMATION?

T. Matsuishi, I. Nonaka, H. Kato, 1997, Muscle & nerve.

Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome

H. Matsuda, I. Nonaka, Yu‐ichi Goto, 1996, Brain and Development.

Peracetylated N-Acetylmannosamine, a Synthetic Sugar Molecule, Efficiently Rescues Muscle Phenotype and Biochemical Defects in Mouse Model of Sialic Acid-deficient Myopathy*

I. Nonaka, Y. Hayashi, I. Nishino, 2011, The Journal of Biological Chemistry.

Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles*

I. Nonaka, Y. Hayashi, I. Nishino, 2004, Journal of Biological Chemistry.

Insertion near the mitochondrial tyrosine tRNA gene in patients with mitochondrial diseases

I. Nonaka, S. Horai, Yu-ichi Goto, 1994 .

Chronic progressive external ophthalmoplegia: A correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies

Ikuya Nonaka, I. Nonaka, S. Horai, 1990, Journal of the Neurological Sciences.

Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan

I. Nonaka, M. Sasaki, K. Sugai, 2016, Brain and Development.

Direct evidence for expression of type II flavoprotein subunit in human complex II (succinate-ubiquinone reductase).

M. Taniwaki, Yu‐ichi Goto, K. Kita, 2003, Biochemical and biophysical research communications.

Direct evidence for two distinct forms of the flavoprotein subunit of human mitochondrial complex II (succinate-ubiquinone reductase).

M. Taniwaki, K. Kita, E. Tomitsuka, 2003, Journal of biochemistry.

Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO)

R. Sakuta, I. Nonaka, S. Horai, 1994, Journal of the Neurological Sciences.

The manner in which DNA is packaged with TFAM has an impact on transcription activation and inhibition

H. Harashima, Yuma Yamada, Y. Matsushima, 2012, FEBS open bio.

Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.

I. Nonaka, Y. Hayashi, I. Nishino, 2011, Human molecular genetics.

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report

I. Nishino, H. Nakajima, S. Kamei, 2020, BMC Neurology.

Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1.

H. Sasaki, I. Yabe, Yu-ichi Goto, 2013, Parkinsonism & related disorders.

Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

N. Murase, R. Takahashi, R. Ohtani, 2019, Journal of Clinical Neuroscience.

Hypoparathyroidism and insulin‐dependent diabetes mellitus in a patient with Kearns–Sayre syndrome harbouring a mitochondrial DNA deletion

I. Nonaka, I. Nishino, N. Ohsawa, 1996, Clinical endocrinology.

An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype.

A. Mitsudome, S. Hirose, T. Kanaumi, 2006, Pediatric neurology.

Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2

I. Nonaka, H. Arai, K. Inui, 1997, Brain and Development.

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

I. Nonaka, Yu‐ichi Goto, S. Honzawa, 2004, Journal of Human Genetics.

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome

S. Saitoh, C. Sakai, E. Takeshita, 2014, Journal of Human Genetics.

ECHS1 Mutations Cause Combined Respiratory Chain Deficiency Resulting in Leigh Syndrome

Yuichi Matsushima, Masayuki Sasaki, Seiji Yamaguchi, 2015, Human mutation.

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

R. Casadio, P. Striano, E. Aronica, 2021, Brain : a journal of neurology.

Mitochondrial encephalomyopathy

Yu-ichi Goto, 2000, Nihon rinsho. Japanese journal of clinical medicine.

The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy

S. Kato, Y. Yoshimura, K. Sueoka, 2007, Journal of Assisted Reproduction and Genetics.

Frequent mutations in Japanese patients with acid maltase deficiency

I. Nonaka, S. Tsujino, H. Sugie, 2000, Neuromuscular Disorders.

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)

S. Tsuji, H. Shimazaki, Y. Fukuda, 2012, Journal of Medical Genetics.

Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy.

S. Aoki, I. Nonaka, I. Nishino, 2008, Internal medicine.

Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes

E. Nagata, I. Nishino, A. Mizuma, 2017, Internal medicine.

“All‐or‐none” cytochrome C oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: An ultrastructural—cytochemical study

I. Nonaka, T. Matsuoka, Yu-ichi Goto, 1993, Muscle & nerve.

Mitochondrial respiratory dysfunction disturbs neuronal and cardiac lineage commitment of human iPSCs

H. Hatakeyama, Yu‐ichi Goto, Mutsumi Yokota, 2017, Cell Death & Disease.

Leber's hereditary optic neuropathy with dystonia in a Japanese family

M. Uchino, Masaki Watanabe, S. Mita, 2006, Journal of the Neurological Sciences.

Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome

I. Nonaka, S. Horai, M. Makino, 1998, Neuromuscular Disorders.

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

S. Matsuda, Y. Fujino, K. Fujimoto, 2021, Journal of epidemiology.

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

Yu-ichi Goto, Hideyuki Hatakeyama, 2016, Stem cells.

Muscle histopathology in diabetes mellitus associated with mitochondrial tRNALeu(UUR) mutation at position 3243

I. Nonaka, N. Murakami, M. Taniyama, 1997, Journal of the Neurological Sciences.

Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.

N. Fuku, A. Ohtake, K. Murayama, 2010, Biochimica et biophysica acta.

Low dose resveratrol ameliorates mitochondrial respiratory dysfunction and enhances cellular reprogramming.

H. Hatakeyama, Yu‐ichi Goto, Y. Mizuguchi, 2017, Mitochondrion.

Germline mosaicism of a novel mutation in lysosome‐associated membrane protein‐2 deficiency (Danon disease)

I. Nishino, Kyoko Takano, S. Saitoh, 2002, Annals of neurology.

Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene

I. Nonaka, I. Nishino, T. Yamasoba, 2002, Neuromuscular Disorders.

Severe Central Nervous System Involvement in a Patient With Congenital Fiber-Type Disproportion Myopathy

I. Nonaka, E. Nakagawa, K. Sugai, 1996, Journal of child neurology.

Isolated mitochondrial stroke‐like episodes in an elderly patient with the MT‐ND3 gene mutation

I. Nakano, T. Ozawa, K. Sugaya, 2015 .

Progressive carotid artery stenosis with a novel tRNA phenylalanine mitochondrial DNA mutation

Zhaoxia Wang, A. Kurata, J. Hamada, 2009, Journal of the Neurological Sciences.

Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.

I. Nonaka, I. Nishino, N. Takahashi, 2005, The American journal of the medical sciences.

The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)

I. Nonaka, I. Nishino, S. Horai, 1996, Muscle & nerve.

Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions

I. Nishino, N. Matsumoto, T. Mizuguchi, 2021, Internal medicine.

A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy

I. Nonaka, S. Horai, J. Tohyama, 1992, Annals of neurology.

Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.

S. Dimauro, C. Liou, T. Fujii, 2010, Mitochondrion.

Progression in a Case of Kearns-Sayre Syndrome

Y. Ishikawa, Y. Ishikawa, R. Minami, 2000, Journal of child neurology.

Mitochondrial DNA mutation and Leigh's syndrome

R. Sakuta, I. Nonaka, H. Yoshinaga, 1992, Annals of neurology.

Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome

I. Nishino, T. Shimohata, Yusuke Manabe, 2019, Documenta Ophthalmologica.

Muscle histopathology in myoclonus epilepsy with ragged-red fibers (MERRF)

I. Nonaka, Yu‐ichi Goto, M. Yoneda, 1991, Journal of the Neurological Sciences.

Clinical and genetic features in a MELAS child with a 3271T>C mutation.

W. Liang, Y. Jong, Hsiao-Feng Chou, 2008, Pediatric neurology.

Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A comparative study

R. Sakuta, I. Nonaka, S. Horai, 1993, Journal of the Neurological Sciences.

Mitochondrial myopathy with progressive decrease in mitochondrial tRNALeu(UUR) mutant genomes

I. Nonaka, Y. Kawakami, O. Fujino, 1994, Annals of neurology.

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

Y. Sunada, Yu‐ichi Goto, T. Murakami, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Magnetic resonance imaging findings in Leigh syndrome with a novel compound heterozygous SURF1 gene mutation

R. Koide, E. Isozaki, Younhee Kim, 2016 .

Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia

I. Nishino, Yu‐ichi Goto, S. Ueno, 2006, Journal of Human Genetics.

Dentatorubral-pallidoluysian atrophy (DRPLA) presenting with psychosis.

S. Tsuji, T. Asada, K. Arima, 2001, The Journal of neuropsychiatry and clinical neurosciences.

Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction.

J. Hayashi, S. Ohta, A. Kikuchi, 1991, Proceedings of the National Academy of Sciences of the United States of America.

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

Y. Goto, I. Nonaka, S. Horai, 1991, Biochimica et biophysica acta.

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.

H. Fukuyama, Y. Nagahama, J. Kimura, 1995, Biochemical and biophysical research communications.

Creutzfeldt‐Jakob disease cluster in an Australian rural city

I. Nishino, Kyoko Takano, S. Saitoh, 2002, Annals of neurology.

A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

R. Sakuta, Y. Goto, I. Nonaka, 1994, The New England journal of medicine.

A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome

I. Nonaka, K. Inui, H. Tsukamoto, 2002, Neuromuscular Disorders.

Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

Toshihiro Tanaka, H. Tanabe, A. Sano, 1999, American journal of human genetics.

A case of chronic progressive external ophthalmoplegia presenting with central neurogenic hyperventilation

N. Hattori, T. Tsunemi, Tomoyo Shimada, 2022, Brain Disorders.

Clinical implications of duplicated mtDNA in Pearson syndrome.

Y. Goto, N. Sakura, H. Kihara, 2001, American journal of medical genetics.

National Center Biobank Network

Y. Omae, K. Tokunaga, Yu-ichi Goto, 2022, Human Genome Variation.

Mitochondrial abnormalities in selenium‐deficient myopathy

I. Nonaka, I. Nishino, Y. Yokoyama, 1998, Muscle & nerve.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)

Y. Goto, I. Nonaka, S. Horai, 1992, Neurology.

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome.

S. Horai, N. Itami, N. Kajii, 1990, The Journal of pediatrics.

Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA

N. Chihara, K. Sugaya, S. Matsubara, 2011, Neurological Sciences.

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes

Y. Hayashi, I. Nishino, S. Noguchi, 2008, Muscle & nerve.

Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers (MERRF): a single-photon emission computed tomographic (SPECT) and electrophysiological study

I. Nonaka, Yu‐ichi Goto, Soichiro Tanaka, 1997, Brain and Development.

The association between haematological manifestation and mtDNA deletions in Pearson syndrome

Y. Goto, I. Nonaka, N. Sakura, 1997, Journal of Inherited Metabolic Disease.

A novel homoplasmic mitochondrial DNA mutation (m.13376T>C, p.I347T) of MELAS presenting characteristic medial temporal lobe atrophy

K. Abe, Yu‐ichi Goto, J. Wada, 2020, Journal of the Neurological Sciences.

Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes.

Yu‐ichi Goto, S. Yonemitsu, Y. Koga, 2016, The Tohoku journal of experimental medicine.

Marked left ventricular hypertrophy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.

I. Nonaka, I. Nishino, N. Takahashi, 2008, International journal of cardiology.

Mutant mtDNA at 1555 A to G in 12S rRNA gene and hypersusceptibility of mitochondrial translation to streptomycin can be co-transferred to rho 0 HeLa cells.

J. Hayashi, D. Takai, Yoshitomo Oka, 1996, Biochemical and biophysical research communications.

Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency: muscle culture study

A. Kikuchi, Y. Goto, I. Nonaka, 2004, Acta Neuropathologica.

CO2-sensitive tRNA modification associated with human mitochondrial disease

Tsutomu Suzuki, Y. Sakaguchi, S. Nakagawa, 2018, Nature Communications.

Expression of MyoD and myogenin in dystrophic mice, mdx and dy, during regeneration

Y. Goto, I. Nonaka, N. Murakami, 2000, Acta Neuropathologica.

Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function.

R. Sakuta, J. Hayashi, S. Ohta, 1993, Biochemical and biophysical research communications.