Sequence of L2HDH_HUMAN

L-2-hydroxyglutarate dehydrogenase

Q9H9P8

463

50316

563061

Rzem R.,Veiga-da-Cunha M.,Noel G.,Goffette S.,Nassogne M.-C.,Tabarki B.,Schoeller C.,Marquardt T.,Vikkula M.,van Schaftingen E.

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.

Proc. Natl. Acad. Sci. U.S.A.

101

16849-16854

2004

563062

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 T.-O.,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.

Complete sequencing and characterization of 21,243 full-length human cDNAs.

Nat. Genet.

36

40-45

2004

563063

Heilig R.,Eckenberg R.,Petit J.-L.,Fonknechten N.,Da Silva C.,Cattolico L.,Levy M.,Barbe V.,De Berardinis V.,Ureta-Vidal A.,Pelletier E.,Vico V.,Anthouard V.,Rowen L.,Madan A.,Qin S.,Sun H.,Du H.,Pepin K.,Artiguenave F.,Robert C.,Cruaud C.,Bruels T.,Jaillon O.,Friedlander L.,Samson G.,Brottier P.,Cure S.,Segurens B.,Aniere F.,Samain S.,Crespeau H.,Abbasi N.,Aiach N.,Boscus D.,Dickhoff R.,Dors M.,Dubois I.,Friedman C.,Gouyvenoux M.,James R.,Madan A.,Mairey-Estrada B.,Mangenot S.,Martins N.,Menard M.,Oztas S.,Ratcliffe A.,Shaffer T.,Trask B.,Vacherie B.,Bellemere C.,Belser C.,Besnard-Gonnet M.,Bartol-Mavel D.,Boutard M.,Briez-Silla S.,Combette S.,Dufosse-Laurent V.,Ferron C.,Lechaplais C.,Louesse C.,Muselet D.,Magdelenat G.,Pateau E.,Petit E.,Sirvain-Trukniewicz P.,Trybou A.,Vega-Czarny N.,Bataille E.,Bluet E.,Bordelais I.,Dubois M.,Dumont C.,Guerin T.,Haffray S.,Hammadi R.,Muanga J.,Pellouin V.,Robert D.,Wunderle E.,Gauguet G.,Roy A.,Sainte-Marthe L.,Verdier J.,Verdier-Discala C.,Hillier L.W.,Fulton L.,McPherson J.,Matsuda F.,Wilson R.,Scarpelli C.,Gyapay G.,Wincker P.,Saurin W.,Quetier F.,Waterston R.,Hood L.,Weissenbach J.

The DNA sequence and analysis of human chromosome 14.

Nature

421

601-607

2003

563064

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

563065

Rzem R.,Van Schaftingen E.,Veiga-da-Cunha M.

The gene mutated in L-2-hydroxyglutaric aciduria encodes L-2-hydroxyglutarate dehydrogenase.

Biochimie

88

113-116

2006

563066

Choudhary C.,Kumar C.,Gnad F.,Nielsen M.L.,Rehman M.,Walther T.C.,Olsen J.V.,Mann M.

Lysine acetylation targets protein complexes and co-regulates major cellular functions.

Science

325

834-840

2009

563067

Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.

Initial characterization of the human central proteome.

BMC Syst. Biol.

5

17-17

2011

563068

Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

J. Proteomics

96

253-262

2014

563069

Vaca Jacome A.S.,Rabilloud T.,Schaeffer-Reiss C.,Rompais M.,Ayoub D.,Lane L.,Bairoch A.,Van Dorsselaer A.,Carapito C.

N-terminome analysis of the human mitochondrial proteome.

Proteomics

15

2519-2524

2015

563070

Topcu M.,Jobard F.,Halliez S.,Coskun T.,Yalcinkayal C.,Gerceker F.O.,Wanders R.J.A.,Prud'homme J.-F.,Lathrop M.,Ozguc M.,Fischer J.

L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

Hum. Mol. Genet.

13

2803-2811

2004

563071

Vilarinho L.,Cardoso M.L.,Gaspar P.,Barbot C.,Azevedo L.,Diogo L.,Santos M.,Carrilho I.,Fineza I.,Kok F.,Chorao R.,Alegria P.,Martins E.,Teixeira J.,Cabral-Fernandes H.,Verhoeven N.M.,Salomons G.S.,Santorelli F.M.,Cabral P.,Amorim A.,Jakobs C.

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.

Hum. Mutat.

26

395-396

2005