Citations for
1MEIO2, NUBPL
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS.
Neurology 80(17):1577-1583. Epub 2013 Apr 3. 2013
2NUBPL
Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations.
Tenisch EV, Lebre AS, Grévent D, de Lonlay P, Rio M, Zilbovicius M, Funalot B, Desguerre I, Brunelle F, Rötig A, Munnich A, Boddaert N.
Neurology 79(4):391. doi: 10.1212/WNL.0b013e3182611232. No abstract available. 2012
3FOXRED1, MEIO, MEIO2, NUBPL
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK.
Nat Genet 42(10):851-8. Epub 2010 Sep 5. 2010
4NUBPL
Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.
Sheftel AD, Stehling O, Pierik AJ, Netz DJ, Kerscher S, Elsässer HP, Wittig I, Balk J, Brandt U, Lill R.
Mol Cell Biol 29(22):6059-73. Epub 2009 Sep 14. 2009
5AARSD1, ACSM2A, ACTL8, ADAD2, ADAM6, AGAP9, AHCTF1P, ALDH1L2, AMER1, AMN1, ANGEL2, ANKFN1, ANKHD1, ANKIB1, ANKMY2, ANKRD10, ANKRD18A, ANKRD19, ANKRD26, ANKRD27, ANKRD31, ANKRD33, ANKRD34A, ANKRD34C, ANKRD35, ANKRD50, ANKS6, ARMC5, ATAD2B, ATP5SL, ATP5Sl, BTBD11, C10orf139, C10orf31, C11orf37, C11orf39, C11orf44, C11orf55, C12orf27, C12orf35, C12orf40, C12orf47, C12orf50, C12orf55, C14orf105, C14orf180, C14orf181, C14orf70, C15orf28, C15orf37, C15orf53, C15orf54, C15orf56, C16orf13, C16orf59, C16orf68, C16orf81, C17orf47, C17orf53, C17orf55, C17orf56, C17orf65, C17orf66, C17orf69, C17orf72, C17orf76, C17orf77, C17orf78, C18orf15, C18orf26, C18orf33, C18orf62, C19orf46, C1orf112, C1orf125, C1orf127, C1orf131, C1orf132, C1orf62, C1orf83, C1orf92, C1orf96, C20orf152, C20orf175, C20orf200, C20orf46, C21orf125, C21orf130, C22orf37, C2orf37, C2orf54, C2orf61, C2orf67, C3orf30, C3orf41, C3orf44, C3orf56, C4orf21, C4orf30, C4orf32, C4orf35, C5orf17, C5orf30, C5orf34, C6orf103, C6orf140, C6orf147, C6orf214, C7orf40, C7orf42, C7orf52, C8orf31, C8orf34, C8orf47, C9orf106, C9orf139, C9orf66, C9orf73, C9orf97, CALML4, CBR4, CC2D2A, CCDC114, CCDC115, CCDC121, CCDC128, CCDC129, CCDC138, CCDC140, CCDC141, CCDC144B, CCDC148, CCDC43, CCDC57, CCDC63, CCDC65, CCDC69, CCDC79, CCDC83, CCDC87, CCDC93, CCDC97, CCNJ, CCNJL, CCT6AP1, CDC20B, CEP164, CEP170B, CKAP2L, CLEC4GP1, CNTD2, CNTNAP5, COA1, CROCCL1, CROCCL2, CXorf18, CXorf25, CXorf55, CXorf62, CYP4V2, DDX60, DEF8, DEPDC1B, DEPDC4, DHRS12, DIS3L, DNAAF3, DNHD1, DNHD1L, DNHL1, DTWD2, DUSP27, DZIP1L, ECHDC2, EHBP1L1, EOGT, EP400NL, FADS6, FAM108C1, FAM133A, FAM134A, FAM139A, FAM149A, FAM149B1, FAM153C, FAM173B, FAM182A, FAM21A, FAM21C, FAM45A, FAM66A, FAM66B, FAM66C, FAM66D, FAM66E, FAM71D, FAM71F1, FAM73A, FAM75C1, FAM78A, FAM87B, FAM90A1, FAM98A, FAM98B, FAM98C, FLAD1, FSD2, GAB4, GARNL3, GAS2L3, GK5, GLYATL1, GMPPA, GOLGA9P, GSTCD, H2BFM, HDX, HECTD2, HFM1, IFTAP, IGSF22, IGSF5, ISLR2, KANK2, KANK3, KANK4, KCTD19, KIAA0913, KIAA1324L, KIF24, KLHDC7A, KLHL26, L3MBTL4, LARP6, LBA1, LIME1, LINC00299, LOXHD1, LRRC36, LRRC37A4, MARCH9, MIB2, MOBKL1B, MOBKL2A, MOBKL2B, MOBKL2C, MORC4, MTURN, MYH15, N6AMT1, NAA30, NAG8, NDUFAF5, NKAIN3, NOXIN, NUBPL, OTOGL, OTOGL, PDZK1P1, PHF20L1, PIANP, PID1, PLCH1, POLR3D, PROX2, PRR10, RANBP6, RETREG3, RFPL4B, RIPPLY2, RITA1, SCIMP, SDE2, SETD4, SFXN4, SIRPD, SLC10A5, SLC25A29, SLC35E1, SLC35F1, SLC35F3, SLC38A10, SLC38A11, SLC38A7, SMAGP, SMG8, SMYD4, SNHG10, SNHG11, SNX30, STAG3L1, SWSAP1, TANC2, TBRG4, TDRD7, TMEM105, TMEM151B, TMEM222, TPD52L3, TRMT2B, TSGA10IP, TTC29, UAP1L1, VPS35L, WDR63, WDR90, WDTC1, ZBTB46, ZIK1, ZMAT1, ZMAT2, ZNF12, ZNF321, ZNF347, ZNF430, ZNF433, ZNF441, ZNF442, ZNF483, ZNF526, ZNF527, ZNF569, ZNF600, ZNF615, ZNF619, ZNF620, ZNF662, ZNFX1, ZYG11B, ZZZ3
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S.
Nat Genet 36(1):40-5. Epub 2003 Dec 21. 2004