Sequence of D2HDH_HUMAN

Q8N465

521

56416

D-2-hydroxyglutarate dehydrogenase

Q8N465

521

56416

1047520

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

1047521

Hillier L.W.,Graves T.A.,Fulton R.S.,Fulton L.A.,Pepin K.H.,Minx P.,Wagner-McPherson C.,Layman D.,Wylie K.,Sekhon M.,Becker M.C.,Fewell G.A.,Delehaunty K.D.,Miner T.L.,Nash W.E.,Kremitzki C.,Oddy L.,Du H.,Sun H.,Bradshaw-Cordum H.,Ali J.,Carter J.,Cordes M.,Harris A.,Isak A.,van Brunt A.,Nguyen C.,Du F.,Courtney L.,Kalicki J.,Ozersky P.,Abbott S.,Armstrong J.,Belter E.A.,Caruso L.,Cedroni M.,Cotton M.,Davidson T.,Desai A.,Elliott G.,Erb T.,Fronick C.,Gaige T.,Haakenson W.,Haglund K.,Holmes A.,Harkins R.,Kim K.,Kruchowski S.S.,Strong C.M.,Grewal N.,Goyea E.,Hou S.,Levy A.,Martinka S.,Mead K.,McLellan M.D.,Meyer R.,Randall-Maher J.,Tomlinson C.,Dauphin-Kohlberg S.,Kozlowicz-Reilly A.,Shah N.,Swearengen-Shahid S.,Snider J.,Strong J.T.,Thompson J.,Yoakum M.,Leonard S.,Pearman C.,Trani L.,Radionenko M.,Waligorski J.E.,Wang C.,Rock S.M.,Tin-Wollam A.-M.,Maupin R.,Latreille P.,Wendl M.C.,Yang S.-P.,Pohl C.,Wallis J.W.,Spieth J.,Bieri T.A.,Berkowicz N.,Nelson J.O.,Osborne J.,Ding L.,Meyer R.,Sabo A.,Shotland Y.,Sinha P.,Wohldmann P.E.,Cook L.L.,Hickenbotham M.T.,Eldred J.,Williams D.,Jones T.A.,She X.,Ciccarelli F.D.,Izaurralde E.,Taylor J.,Schmutz J.,Myers R.M.,Cox D.R.,Huang X.,McPherson J.D.,Mardis E.R.,Clifton S.W.,Warren W.C.,Chinwalla A.T.,Eddy S.R.,Marra M.A.,Ovcharenko I.,Furey T.S.,Miller W.,Eichler E.E.,Bork P.,Suyama M.,Torrents D.,Waterston R.H.,Wilson R.K.

Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

Nature

434

724-731

2005

1047522

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

Genome Res.

14

2121-2127

2004

1047523

Achouri Y.,Noel G.,Vertommen D.,Rider M.H.,Veiga-Da-Cunha M.,van Schaftingen E.

Identification of a dehydrogenase acting on D-2-hydroxyglutarate.

Biochem. J.

381

35-42

2004

1047524

Struys E.A.,Salomons G.S.,Achouri Y.,van Schaftingen E.,Grosso S.,Craigen W.J.,Verhoeven N.M.,Jakobs C.

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

Am. J. Hum. Genet.

76

358-360

2005

1047525

Struys E.A.,Korman S.H.,Salomons G.S.,Darmin P.S.,Achouri Y.,van Schaftingen E.,Verhoeven N.M.,Jakobs C.

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Ann. Neurol.

58

626-630

2005

1047526

Misra V.K.,Struys E.A.,O'brien W.,Salomons G.S.,Glover T.,Jakobs C.,Innis J.W.

Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

Mol. Genet. Metab.

86

200-205

2005

1047527

Struys E.A.,Verhoeven N.M.,Salomons G.S.,Berthelot J.,Vianay-Saban C.,Chabrier S.,Thomas J.A.,Tsai A.C.-H.,Gibson K.M.,Jakobs C.

D-2-Hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?

Mol. Genet. Metab.

88

53-57

2006

1047528

Haliloglu G.,Temucin C.M.,Oguz K.K.,Celiker A.,Coskun T.,Sass J.O.,Fischer J.,Topcu M.

Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria.

J. Inherit. Metab. Dis.

32

0-0

2009

1047529

Kranendijk M.,Struys E.A.,Gibson K.M.,Wickenhagen W.V.,Abdenur J.E.,Buechner J.,Christensen E.,de Kremer R.D.,Errami A.,Gissen P.,Gradowska W.,Hobson E.,Islam L.,Korman S.H.,Kurczynski T.,Maranda B.,Meli C.,Rizzo C.,Sansaricq C.,Trefz F.K.,Webster R.,Jakobs C.,Salomons G.S.

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

Hum. Mutat.

31

279-283

2010

1047530

Yang J.,Zhu H.,Zhang T.,Ding J.

Structure, substrate specificity, and catalytic mechanism of human D-2-HGDH and insights into pathogenicity of disease-associated mutations.

Cell Discov.

7

3-3

2021