業績
論文
- Kishita Y, Sugiura A, Omichi N, Shimura M, Yatsuka Y, Nakamura K, Tanaka T, Kubota M, Murayama K, Ohtake A, Okazaki, Y. Variants in MICOS10Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome. Liver Int. 2024. プレスリリース
- Ozaki K, Yatsuka Y, Oyazato Y, Nishiyama A, Nitta KR, Kishita Y, Fushimi T, Shimura M, Noma S, Sugiyama Y, Tagami M, Fukunaga M, Kinoshita H, Hirata T, Suda W, Murakawa Y, Carninci P, Ohtake A, Murayama K, Okazaki Y. Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy. NPJ Genom Med. 2024 Oct 25;9(1):48. プレスリリース
- Borna NN, Kishita Y, Shimura M, Murayama K, Ohtake A, Okazaki Y. Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene. Mitochondrion. 76:101858. 2024
- Miyauchi A, Watanabe C, Yamada N, Jimbo EF, Kobayashi M, Ohishi N, Nagayoshi A, Aoki S, Kishita Y, Ohtake A, Ohno N, Takahashi M, Yamagata T, Osaka H. Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors. Sci Rep. 14(1):4820. 2024
- Omichi N, Kishita Y, Nakama M, Sasai H, Terazawa A, Kobayashi E, Fushimi T, Sugiyama Y, Ichimoto K, Nitta KR, Yatsuka Y, Ohtake A, Murayama K, Okazaki Y. Novel ITPA variants identified by whole genome sequencing and RNA sequencing. J Hum Genet. 68(9):649-652. 2023
- Kishita Y, Sugiura A, Onuki T, Ebihara T, Matsuhashi T, Shimura M, Fushimi T, Ichino N, Nagatakidani Y, Nishihata H, Nitta KR, Yatsuka Y, Imai-Okazaki A, Wu Y, Osaka H, Ohtake A, Murayama K, Okazaki Y. Strategic validation of variants of uncertain significance in ECHS1 genetic testing. J Med Genet. 60(10):1006-1015. 2023 プレプリント(medRxiv) プレスリリース
- Naganuma T, Imasawa T, Nukui I, Wakasugi M, Kitamura H, Yatsuka Y, Kishita Y, Okazaki Y, Murayama K, Jinguji Y. Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report. Mol Genet Metab Rep. 35:100963. 2023
- Watanabe C, Osaka H, Watanabe M, Miyauchi A, Jimbo EF, Tokuyama T, Uosaki H, Kishita Y, Okazaki Y, Onuki T, Ebihara T, Aizawa K, Murayama K, Ohtake A, Yamagata T. Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease. Mol Genet Metab Rep. 34:100951. 2023
- Shimozawa H, Sato T, Osaka H, Takeda A, Miyauchi A, Omika N, Yada Y, Kono Y, Murayama K, Okazaki Y, Kishita Y, Yamagata T. A Case of Infantile Mitochondrial Cardiomyopathy Treated with a Combination of Low-Dose Propranolol and Cibenzoline for Left Ventricular Outflow Tract Stenosis. Int Heart J. 63 (5):970-977. 2022
- Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Ichimoto K, Naruke Y, Akiyama N, Lim SC, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Okazaki A, Ohtake A, Okazaki Y, Murayama K. Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deleletion. Mol Genet Metab Rep. 33:100912. 2022
- Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Matsuhashi T, Ichimoto K, Matsunaga A, Akiyama N, Ogawa-Tominaga M, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Okazaki A, Ohtake A, Okazaki Y, Murayama K. Neonatal-Onset Mitochondrial Disease: Clinical Features, Molecular Diagnosis, and Prognosis. Arch Dis Child Fetal Neonatal Ed. 107(3):329-334. 2022 プレスリリース
- Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Med. 14(1):38. 2022
- Shimura M, Onuki T, Sugiyama Y, Matsuhashi T, Ebihara T, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Nitta KR, Imai-Okazaki A, Yatsuka Y, Kishita Y, Ohtake A, Okazaki Y, Murayama K. Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G>A. Mitochondrion. 63:1-8. 2022
- Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Muramatsu K. Valine metabolites analysis in ECHS1 deficiency. Mol Genet Metab Rep. 29:100809. 2021
- Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta KR, Yatsuka Y, Hirose S, Ideguchi H, Ohtake A, Murayama K, Okazaki Y. Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. Hum Mutat. 42(11):1422-1428. 2021 プレスリリース1 プレスリリース2
- Kinoshita S, Ando M, Ando J, Ishii M, Furukawa Y, Tomita O, Azusawa Y, Shirane S, Kishita Y, Yatsuka Y, Eguchi H, Okazaki Y, Komatsu N. Trigenic ADH5/ALDH2/ADGRV1mutations in myelodysplasia with Usher syndrome. Heliyon. 7(8):e07804. 2021
- Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Tominaga M, Ebihara T, Matsuhashi T, Tomoko Tsuruoka, Masakazu Kohda, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y. Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients. Int J Cardiol. S0167-5273(21)01080-9. 2021 プレスリリース
- Kishita Y, Ishikawa K, Nakada K, Hayashi JI, Fushimi T, Shimura M, Kohda M, Ohtake A, Murayama K, Okazaki Y. A high mutation load of m.14597A>G in MT‐ND6 causes Leigh syndrome. Sci Rep. 11(1):11123. 2021
- Akiyama N, Shimura M, Yamazaki T, Harashima H, Fushimi T, Tsuruoka T, Ebihara T, Ichimoto K, Matsunaga A, Saito-Tsuruoka M, Yatsuka Y, Kishita Y, Kohda M, Namba A, Kamei Y, Okazaki Y, Kosugi S, Ohtake A, Murayama K. Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan. Sci Rep. 11(1):3531. 2021 プレスリリース1 プレスリリース2
- Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SS, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Vermeulen RJ, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann M, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus. Med (N Y). 2(1):49-73. 2021 プレスリリース1 プレスリリース2
- Borna NN, Kishita Y, Sakai N, Hamada Y, Kamagata K, Kohda M, Ohtake A, Murayama K, Okazaki Y. Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL. Genes (Basel). 11(11):E1325. 2020
- Maeoka Y, Doi T, Aizawa M, Miyasako K, Hirashio S, Masuda Y, Kishita Y, Okazaki Y, Murayama K, Imasawa T, Hara S, Masaki T. A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes. BMC Nephrol. 221(1):376. 2020
- Kishita Y, Shimura M, Kohda M, Akita M, Imai-Okazaki A, Yatsuka Y, Nakajima Y, Ito T, Ohtake A, Murayama K, Okazaki Y. A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. Mol Genet Genomic Med. e1427. 2020
- Shimura M, Kuranobu N, Ogawa-Tominaga M, Akiyama N, Sugiyama Y, Ebihara T, Fushimi T, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Umetsu S, Inui A, Fujisawa T, Tanikawa K, Ito R, Fukuda A, Murakami J, Kaji S, Kasahara M, Shiraki K, Ohtake A, Okazaki Y, Murayama K. Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation. Orphanet J Rare Dis. 15(1):169. 2020 プレスリリース
- Borna NN, Kishita Y, Abe J, Furukawa T, Ogawa-Tominaga M, Fushimi T, Imai-Okazaki A, Takeda A, Ohtake A, Murayama K, Okazaki Y. NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness. Brain. 143(7):e54. 2020
- Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Clin Genet. 98(2):155-165. 2020 プレスリリース
- Ohnuma K, Kishita Y, Nyuzuki H, Kohda M, Ohtsu Y, Takeo S, Asano T, Sato-Miyata Y, Ohtake A, Murayama K, Okazaki Y, Aigaki T. Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila. FEBS Lett. 594(13): 2168-2181. 2020
- Ogawa E, Fushimi T, Ogawa-Tominaga M, Shimura M, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Kishita Y, Kohda M, Imai-Okazaki A, Okazaki Y, Morioka I, Ohtake A, Murayama K. Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis. J Inherit Metab Dis. 43(4):819-826. 2020 プレスリリース
- Yao Y, Nishimura M, Murayama K, Kuranobu N, Tojo S, Beppu M, Ishige T, Itoga S, Tsuchida S, Mori M, Takayanagi M, Yokoyama M, Yamagata K, Kishita Y, Okazaki Y, Nomura F, Matsushita K, Tanaka T. A simple method for sequencing the whole human mitochondrial genome directly from samples and its application to genetic testing. Sci Rep. 9(1):17411. 2019
- Takada R, Tozawa T, Kondo H, Kizaki Z, Kishita Y, Okazaki Y, Murayama K, Ohtake A, Chiyonobu T. Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrum. Brain Dev. 42(1):69-72. 2020
- Shimura M, Nozawa N, Ogawa-Tominaga M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Ishii T, Takahashi K, Tanaka T, Nakajima M, Okazaki Y, Ohtake A, Murayama K. Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases. Sci Rep. 9(1):10549. 2019 プレスリリース
- Hirono K, Ichida F, Nishio N, Ogawa-Tominaga M, Fushimi T, Feichtinger RG, Mayr JA, Kohda M, Kishita Y, Okazaki Y, Ohtake A, Murayama K. Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report. Clin Case Rep. 7(3):553-557. 2019
- Imai-Okazaki A, Kishita Y, Kohda M, Mizuno Y, Fushimi T, Matsunaga A, Yatsuka Y, Hirata T, Harashima H, Takeda A, Nakaya A, Sakata Y, Kogaki S, Ohtake A, Murayama K, Okazaki Y. Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background. Int J Cardiol. 279:115-121. 2019
- Borna NN, Kishita Y, Kohda M, Lim SC, Shimura M, Wu Y, Mogushi K, Yatsuka Y, Harashima H, Hisatomi Y, Fushimi T, Ichimoto K, Murayama K, Ohtake A, Okazaki Y. Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. Neurogenetics. 20(1):9-25. 2019 プレスリリース
- Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesais A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. Am J Hum Genet. 103(2):221-231. 2018 プレスリリース
- Miyauchi A, Osaka H, Nagashima M, Kuwajima M, Monden Y, Kohda M, Kishita Y, Okazaki Y, Murayama K, Ohtake A, Yamagata T. Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation. Brain Dev. 40(6):498-502. 2018
- Asano K, Suzuki T, Saito A, Wei FY, Ikeuchi Y, Numata T, Tanaka R, Yamane Y, Yamamoto T, Goto T, Kishita Y, Murayama K, Ohtake A, Okazaki Y, Tomizawa K, Sakaguchi Y, Suzuki T. Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease. Nucleic Acids Res. 46(4):1565-1583. 2018
- Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y. Barth Syndrome: Different Approaches to Diagnosis. J Pediatr. 193:256-260. 2018
- Feichtinger RG, Oláhová M, Kishita Y (Equally first author), Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D’Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 101(4):525-538. 2017
- Ogawa E, Shimura M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Mori M, Kohda M, Kishita Y, Okazaki Y, Takahashi S, Ohtake A, Murayama K. Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients. J Inherit Metab Dis. 40(5):685-693. 2017
- Odahara M, Kishita Y, Sekine Y. MSH1 maintains organelle genome stability and genetically interacts with RECA and RECG in the moss Physcomitrella patens. Plant J. 91(3):455-465. 2017
- Borna NN, Kishita Y, Ishikawa K, Nakada K, Hayashi JI, Tokuzawa Y, Kohda M, Nyuzuki H, Yamashita-Sugahara Y, Nasu T, Takeda A, Murayama K, Ohtake A, Okazaki Y. A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy. J Hum Genet. 62(5):539-547. 2017
- Zaha K, Matsumoto H, Itoh M, Saitsu H, Kato K, Kato M, Ogata S, Murayama K, Kishita Y, Mizuno Y, Kohda M, Nishino I, Ohtake A, Okazaki Y, Matsumoto N, Nonoyama S. DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst. Clin Genet. 90:472-474. 2016
- Imai A, Kishita Y, Nakayama Y, Fujita S, Futatani T, Kohda M, Yatsuka Y, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y. Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy. Int J Cardiol. 221:446-9. 2016
- Imai A, Fujita S, Kishita Y, Kohda M, Tokuzawa Y, Hirata T, Mizuno Y, Harashima H, Nakaya A, Sakata Y, Takeda A, Mori M, Murayama K, Ohtake A, Okazaki Y. Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein. Int J Cardiol. 207:203-5. 2016
- Kohda M, Tokuzawa Y, Kishita Y (Equally first author), Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y. A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. PLOS Genet. 12(1):e1005679. 2016 プレスリリース
- Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A. Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26. Am J Hum Genet. 97(5):761-8. 2015
- Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kölker S, Prokisch H, Klopstock T. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann Clin Transl Neurol. 2(5):492-509. 2015
- Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet. 95(6):708-20. 2014
- Ohtake A, Murayama K, Mori M, Harashima H, Yamazaki T, Tamaru S, Yamashita Y, Kishita Y, Nakachi Y, Kohda M, Tokuzawa Y, Mizuno Y, Moriyama Y, Kato H, Okazaki Y. Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification. Biochim Biophys Acta. 1840(4):1355-9. 2014
- Cheng Z, Tsuda M, Kishita Y, Sato Y, Aigaki T. Impaired energy metabolism in a Drosophila model of mitochondrial aconitase deficiency. Biochem Biophys Res Commun. 433(1):145-50. 2013
- Kishita Y, Tsuda M, Aigaki T. Impaired fatty acid oxidation in a Drosophila model of mitochondrial trifunctional protein (MTP) deficiency. Biochem Biophys Res Commun. 419(2):344-9. 2012
- Tsuda M, Ootaka R, Ohkura C, Kishita Y, Seong KH, Matsuo T, Aigaki T. Loss of Trx-2 enhances oxidative stress-dependent phenotypes in Drosophila. FEBS Lett. 584(15):3398-401. 2010
その他(日本語)
木下善仁、mRNAの制御機構の解明と治療薬・ワクチンへの活用、第1章,第3節 RNAシーケンスを用いた遺伝子欠損の発見、技術情報協会、2023年2月28日
木下善仁、ミトコンドリア鉄硫黄クラスター合成系と疾患、ファルマシア、2023 年 59 巻 3 号 p. 201-205
木下 善仁, 岡﨑 康司、ミトコンドリアと病気、遺伝子医学MOOK35号、48-54
木下 善仁, 津田 学, 相垣 敏郎、TCA回路を中心とした代謝調節と寿命制御 、基礎老化研究 32(3) 21 – 23
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