Citations for
1IDH3A, RP90
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
Peter VG, Nikopoulos K, Quinodoz M, Granse L, Farinelli P, Superti-Furga A, Andréasson S, Rivolta C.
Ophthalmic Genet. Apr;40(2):177-181. doi: 10.1080/13816810.2019.1605391. Epub 2019 Apr 23. 2019
2IDH3A, RP90
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma
Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM
Ophthalmology Jul;124(7):992-1003. doi: 10.1016/j.ophtha.2017.03.010. Epub 2017 Apr 13 2017
3IDH3A
Cerebrospinal fluid metabolomics identifies a key role of isocitrate dehydrogenase in bipolar disorder: evidence in support of mitochondrial dysfunction hypothesis.
Yoshimi N, Futamura T, Bergen SE, Iwayama Y, Ishima T, Sellgren C, Ekman CJ, Jakobsson J, Pålsson E, Kakumoto K, Ohgi Y, Yoshikawa T, Landén M, Hashimoto K.
Mol Psychiatry. Nov;21(11):1504-1510. doi: 10.1038/mp.2015.217. Epub 2016 Jan 19 2016
4IDH3A, IDH3B
Identification and functional characterization of a novel, tissue-specific NAD(+)-dependent isocitrate dehydrogenase beta subunit isoform.
Kim YO, Koh HJ, Kim SH, Jo SH, Huh JW, Jeong KS, Lee IJ, Song BJ, Huh TL.
J Biol Chem 274(52):36866-75. 1999
5IDH3A
Assignment of the human mitochondrial NAD+-specific isocitrate dehydrogenase alpha subunit (IDH3A) gene to 15q25.1-q25.2 by in situ hybridization.
Huh TL, et al.
Genomics 31 : 295-296. 1996
6IDH2, IDH3A
Assignment of the human mitochondrial NADP+-specific isocitrate dehydrogenase (IDH2) gene to 15q26.1 by in situ hybridization.
Oh IU, et al.
Genomics 38 : 104-106. 1996
7IDH3A
Characterization of a cDNA clone for human NAD+ -specific isocitrate dehydrogenase alpha-subunit and structural comparison with its isoenzymes from different species.
Kim YO, et al.
Biochem J 308 : 63-68. 1995