Citations for
1DNAJC30, LHONAR
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
Stenton SL, Tesarova M, Sheremet NL, Catarino CB, Carelli V, Ciara E, Curry K, Engvall M, Fleming LR, Freisinger P, Iwanicka-Pronicka K, Jurkiewicz E, Klopstock T, Koenig MK, Kolářová H, Kousal B, Krylova T, La Morgia C, Nosková L, Piekutowska-Abramczuk D, Russo SN, Stránecký V, Tóthová I, Träisk F, Prokisch H.
Brain Jun 3;145(5):1624-1631. doi: 10.1093/brain/awac052 2022
2DNAJC30, LHONAR
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
Kieninger S, Xiao T, Weisschuh N, Kohl S, Rüther K, Kroisel PM, Brockmann T, Knappe S, Kellner U, Lagrčze W, Mazzola P, Haack TB, Wissinger B, Tonagel F.
J Med Genet. Jan 28:jmedgenet-2021-108235. doi: 10.1136/jmedgenet-2021-108235. Online ahead of print 2022
3DNAJC30, LHONAR
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H.
J Clin Invest. Mar 15;131(6):e138267. doi: 10.1172/JCI138267 2021
4DNAJC30, LHONAR
DNAJC30 biallelic mutations extend mitochondrial complex I-deficient phenotypes to include recessive Leber's hereditary optic neuropathy. 2021. PMID:
Wiggs JL.
J Clin Invest. Mar 15;131(6):e147734. doi: 10.1172/JCI147734 2021
5DNAJC30, WBS
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development. 2018 PMID:
Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvath TL, Sestan N.
Cell Nov 1;175(4):1088-1104.e23. doi: 10.1016/j.cell.2018.09.014. 2018
6ABHD11, DNAJC30, NSUN5, NSUN5C, SPDYE1, WBSCR16, WBSCR17, WBSCR18, WBSCR23
Identification of additional transcripts in the Williams-Beuren syndrome critical region.
Merla G, Ucla C, Guipponi M, Reymond A.
Hum Genet 110(5):429-38. Epub 2002 Mar 28. 2002