Följ
Akira Ohtake
Akira Ohtake
Department of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University
Verifierad e-postadress på saitama-med.ac.jp
Titel
Citeras av
Citeras av
År
Analysis of the assembly profiles for mitochondrial-and nuclear-DNA-encoded subunits into complex I
M Lazarou, M McKenzie, A Ohtake, DR Thorburn, MT Ryan
Molecular and cellular biology 27 (12), 4228-4237, 2007
2932007
A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies
M Kohda, Y Tokuzawa, Y Kishita, H Nyuzuki, Y Moriyama, Y Mizuno, ...
PLoS genetics 12 (1), e1005679, 2016
2842016
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
DM Kirby, R Salemi, C Sugiana, A Ohtake, L Parry, KM Bell, EP Kirk, ...
The Journal of clinical investigation 114 (6), 837-845, 2004
2282004
Mutations of the mitochondrial ND1 gene as a cause of MELAS
DM Kirby, R McFarland, A Ohtake, C Dunning, MT Ryan, C Wilson, ...
Journal of medical genetics 41 (10), 784-789, 2004
2082004
Constitutively activated ALK2 and increased SMAD1/5 cooperatively induce bone morphogenetic protein signaling in fibrodysplasia ossificans progressiva
T Fukuda, M Kohda, K Kanomata, J Nojima, A Nakamura, J Kamizono, ...
Journal of Biological Chemistry 284 (11), 7149-7156, 2009
2032009
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
R McFarland, DM Kirby, KJ Fowler, A Ohtake, MT Ryan, DJ Amor, ...
Annals of Neurology: Official Journal of the American Neurological …, 2004
1892004
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease
DM Kirby, A Boneh, CW Chow, A Ohtake, MT Ryan, D Thyagarajan, ...
Annals of Neurology: Official Journal of the American Neurological …, 2003
1382003
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
R Kopajtich, TJ Nicholls, J Rorbach, MD Metodiev, P Freisinger, H Mandel, ...
The American Journal of Human Genetics 95 (6), 708-720, 2014
1372014
Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders
DR Thorburn, C Sugiana, R Salemi, DM Kirby, L Worgan, A Ohtake, ...
Biochimica et Biophysica Acta (BBA)-Bioenergetics 1659 (2-3), 121-128, 2004
1332004
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ...
Brain 140 (6), 1595-1610, 2017
1282017
Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease
K Asano, T Suzuki, A Saito, FY Wei, Y Ikeuchi, T Numata, R Tanaka, ...
Nucleic acids research 46 (4), 1565-1583, 2018
1192018
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary
T Tajima, A Ohtake, M Hoshino, S Amemiya, N Sasaki, K Ishizu, K Fujieda
The Journal of Clinical Endocrinology & Metabolism 94 (1), 314-319, 2009
1122009
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency
G Brea-Calvo, TB Haack, D Karall, A Ohtake, F Invernizzi, R Carrozzo, ...
The American Journal of Human Genetics 96 (2), 309-317, 2015
1082015
Deficiency of ECHS 1 causes mitochondrial encephalopathy with cardiac involvement
TB Haack, CB Jackson, K Murayama, LS Kremer, A Schaller, ...
Annals of clinical and translational neurology 2 (5), 492-509, 2015
1052015
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant,“Osaka,” in Asians
Y Okano, M Asada, A Fujimoto, A Ohtake, K Murayama, KJ Hsiao, ...
The American Journal of Human Genetics 68 (4), 1036-1042, 2001
932001
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
E Ogawa, M Shimura, T Fushimi, M Tajika, K Ichimoto, A Matsunaga, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2017
922017
Induction of protective immunity to cryptococcal infection in mice by a heat-killed, chitosan-deficient strain of Cryptococcus neoformans
R Upadhya, WC Lam, B Maybruck, CA Specht, SM Levitz, JK Lodge
MBio 7 (3), 10.1128/mbio. 00547-16, 2016
922016
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ...
Genome medicine 14 (1), 38, 2022
912022
Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy
R Kopajtich, K Murayama, AR Janecke, TB Haack, M Breuer, AS Knisely, ...
The American Journal of Human Genetics 99 (2), 414-422, 2016
842016
Guidance for pediatric familial hypercholesterolemia 2017
M Harada-Shiba, T Ohta, A Ohtake, M Ogura, K Dobashi, A Nohara, ...
Journal of Atherosclerosis and Thrombosis 25 (6), 539-553, 2018
812018
Systemet kan inte utföra åtgärden just nu. Försök igen senare.
Artiklar 1–20