Hirano, Michio

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., et al. (2000) · Nature

Glycogen Storage Diseases and MyoclonusLysosomal Storage Disorders Research

Cited by 959

Human mitochondrial DNA: roles of inherited and somatic mutations

Schon, E. A., DiMauro, S., & Hirano, M. (2012) · Nature Reviews Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 757

Diagnosis and management of mitochondrial disease: a consensus statement from the mitochondrial medicine society

Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R., Anselm, I., Cohen, B. H., Falk, M. J., Greene, C., et al. (2015) · Genetics in Medicine

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 607

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Suomalainen, A., Elo, J. M., Pietiläinen, K. H., Hakonen, A. H., Sevastianova, K., Korpela, M., Isohanni, P., Marjavaara, S. K., Tyni, T., Kiuru-Enari, S., et al. (2011) · The Lancet Neurology

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 427

Early‐onset familial parkinsonism due to POLG mutations

Davidzon, G., Greene, P., Mancuso, M., Klos, K. J., Ahlskog, J. E., Hirano, M., & DiMauro, S. (2006) · Annals of Neurology

Parkinson's Disease Mechanisms and TreatmentsMitochondrial Function and Pathology

Cited by 239

Heterogeneity of Coenzyme Q10Deficiency: Patient Study and Literature Review

Emmanuele, V., López, L. C., Berardo, A., Naini, A., Tadesse, S., Wen, B., D’Agostino, E., Solomon, M., DiMauro, S., Quinzii, C., et al. (2012) · Archives of Neurology

Coenzyme Q10 studies and effectsMetabolism and Genetic Disorders

Cited by 214

A functionally dominant mitochondrial DNA mutation

Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., et al. (2008) · Human Molecular Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 113

Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA

Hirano, M., Marti, R., Ferreiro-Barros, C., Vilà, M. R., Tadesse, S., Nishigaki, Y., Nishino, I., & Vu, T. H. (2001) · Seminars in Cell & Developmental Biology

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 109

Inhibition of NAPDH Oxidase 2 (NOX2) Prevents Oxidative Stress and Mitochondrial Abnormalities Caused by Saturated Fat in Cardiomyocytes

Joseph, L. C., Barca, E., Subramanyam, P., Komrowski, M., Pajvani, U., Colecraft, H. M., Hirano, M., & Morrow, J. P. (2016) · PLOS ONE

Mitochondrial Function and PathologyCardiac Ischemia and Reperfusion

Cited by 99

Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome

Siegmund, S. E., Yang, H., Sharma, R., Javors, M., Skinner, O., Mootha, V., Hirano, M., & Schon, E. A. (2017) · Human Molecular Genetics

Mitochondrial Function and PathologyGenetics, Aging, and Longevity in Model Organisms

Cited by 92

Advancements in the pathophysiology of Friedreich’s Ataxia and new prospects for treatments

Babady, N. E., Carelle, N., Wells, R. D., Rouault, T. A., Hirano, M., Lynch, D. R., Delatycki, M. B., Wilson, R. B., Isaya, G., & Puccio, H. (2007) · Molecular Genetics and Metabolism

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 73

Human aging DNA methylation signatures are conserved but accelerated in cultured fibroblasts

Sturm, G., Cardenas, A., Bind, M.-A., Horvath, S., Wang, S., Wang, Y., Hägg, S., Hirano, M., & Picard, M. (2019) · Epigenetics

Epigenetics and DNA MethylationTelomeres, Telomerase, and Senescence

Cited by 61

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base

Camp, K. M., Krotoski, D., Parisi, M. A., Gwinn, K. A., Cohen, B. H., Cox, C. S., Enns, G. M., Falk, M. J., Goldstein, A. C., Gopal-Srivastava, R., et al. (2016) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 59

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

Rodríguez Cruz, P. M., Cossins, J., de Paula Estephan, E., Munell, F., Selby, K., Hirano, M., Maroofin, R., Mehrjardi, M. Y. V., Chow, G., Carr, A., et al. (2019) · Brain

Myasthenia Gravis and ThymomaMuscle Physiology and Disorders

Cited by 51

Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript

Alemi, M., Prigione, A., Wong, A., Schoenfeld, R., DiMauro, S., Hirano, M., Taroni, F., & Cortopassi, G. (2007) · Free Radical Biology and Medicine

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 50

Hypermetabolism and energetic constraints in mitochondrial disorders

Sercel, A. J., Sturm, G., Gallagher, D., St-Onge, M.-P., Kempes, C. P., Pontzer, H., Hirano, M., & Picard, M. (2024) · Nature Metabolism

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 34

Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma

Opial, D., Boehnke, M., Tadesse, S., Lietz-Partzsch, A., Flammer, J., Munier, F., Mermoud, A., Hirano, M., Flückiger, F., & Mojon, D. S. (2001) · Graefe's Archive for Clinical and Experimental Ophthalmology

Glaucoma and retinal disordersMitochondrial Function and Pathology

Cited by 32