"Characterization and nucleotide sequence of the gene encoding the human pyruvate dehydrogenase alpha-subunit."
Koike K. , Urata Y. , Matsuo S. , Koike M.
Gene93:307-311(1990) [PubMed] [Europe PMC] [Abstract]

"Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit."
Ho L. , Wexler I.D. , Liu T.C. , Thekkumkara T.J. , Patel M.S.
Proc. Natl. Acad. Sci. U.S.A.86:5330-5334(1989) [PubMed] [Europe PMC] [Abstract]

Huh T.L. , Chi Y.T. , Casazza J.P. , Veech R.L. , Song B.J.
Submitted (1990-04) to the EMBL/GenBank/DDBJ databases

"The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA."
Dahl H.-H.M. , Hunt S.M. , Hutchison W.M. , Brown G.K.
J. Biol. Chem.262:7398-7403(1987) [PubMed] [Europe PMC] [Abstract]

"Structural organization of the gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex."
Maragos C. , Hutchinson W.M. , Hayasaki K. , Brown G.K. , Dahl H.-H.M.
J. Biol. Chem.264:12294-12298(1989) [PubMed] [Europe PMC] [Abstract]

"Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex."
de Meirleir L. , MacKay N. , Wah A.M.L.H. , Robinson B.H.
J. Biol. Chem.263:1991-1995(1988) [PubMed] [Europe PMC] [Abstract]

"Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase."
Koike K. , Ohta S. , Urata Y. , Kagawa Y. , Koike M.
Proc. Natl. Acad. Sci. U.S.A.85:41-45(1988) [PubMed] [Europe PMC] [Abstract]

Okajima K.
Submitted (2007-05) to the EMBL/GenBank/DDBJ databases

"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 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. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

Suzuki Y. , Sugano S. , Totoki Y. , Toyoda A. , Takeda T. , Sakaki Y. , Tanaka A. , Yokoyama S.
Submitted (2005-04) to the EMBL/GenBank/DDBJ databases

"The DNA sequence of the human X chromosome."
Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , Hurles M.E. , Andrews T.D. , Scott C.E. , Searle S. , Ramser J. , Whittaker A. , Deadman R. , Carter N.P. , Hunt S.E. , Chen R. , Cree A. , Gunaratne P. , Havlak P. , Hodgson A. , Metzker M.L. , Richards S. , Scott G. , Steffen D. , Sodergren E. , Wheeler D.A. , Worley K.C. , Ainscough R. , Ambrose K.D. , Ansari-Lari M.A. , Aradhya S. , Ashwell R.I. , Babbage A.K. , Bagguley C.L. , Ballabio A. , Banerjee R. , Barker G.E. , Barlow K.F. , Barrett I.P. , Bates K.N. , Beare D.M. , Beasley H. , Beasley O. , Beck A. , Bethel G. , Blechschmidt K. , Brady N. , Bray-Allen S. , Bridgeman A.M. , Brown A.J. , Brown M.J. , Bonnin D. , Bruford E.A. , Buhay C. , Burch P. , Burford D. , Burgess J. , Burrill W. , Burton J. , Bye J.M. , Carder C. , Carrel L. , Chako J. , Chapman J.C. , Chavez D. , Chen E. , Chen G. , Chen Y. , Chen Z. , Chinault C. , Ciccodicola A. , Clark S.Y. , Clarke G. , Clee C.M. , Clegg S. , Clerc-Blankenburg K. , Clifford K. , Cobley V. , Cole C.G. , Conquer J.S. , Corby N. , Connor R.E. , David R. , Davies J. , Davis C. , Davis J. , Delgado O. , Deshazo D. , Dhami P. , Ding Y. , Dinh H. , Dodsworth S. , Draper H. , Dugan-Rocha S. , Dunham A. , Dunn M. , Durbin K.J. , Dutta I. , Eades T. , Ellwood M. , Emery-Cohen A. , Errington H. , Evans K.L. , Faulkner L. , Francis F. , Frankland J. , Fraser A.E. , Galgoczy P. , Gilbert J. , Gill R. , Gloeckner G. , Gregory S.G. , Gribble S. , Griffiths C. , Grocock R. , Gu Y. , Gwilliam R. , Hamilton C. , Hart E.A. , Hawes A. , Heath P.D. , Heitmann K. , Hennig S. , Hernandez J. , Hinzmann B. , Ho S. , Hoffs M. , Howden P.J. , Huckle E.J. , Hume J. , Hunt P.J. , Hunt A.R. , Isherwood J. , Jacob L. , Johnson D. , Jones S. , de Jong P.J. , Joseph S.S. , Keenan S. , Kelly S. , Kershaw J.K. , Khan Z. , Kioschis P. , Klages S. , Knights A.J. , Kosiura A. , Kovar-Smith C. , Laird G.K. , Langford C. , Lawlor S. , Leversha M. , Lewis L. , Liu W. , Lloyd C. , Lloyd D.M. , Loulseged H. , Loveland J.E. , Lovell J.D. , Lozado R. , Lu J. , Lyne R. , Ma J. , Maheshwari M. , Matthews L.H. , McDowall J. , McLaren S. , McMurray A. , Meidl P. , Meitinger T. , Milne S. , Miner G. , Mistry S.L. , Morgan M. , Morris S. , Mueller I. , Mullikin J.C. , Nguyen N. , Nordsiek G. , Nyakatura G. , O'dell C.N. , Okwuonu G. , Palmer S. , Pandian R. , Parker D. , Parrish J. , Pasternak S. , Patel D. , Pearce A.V. , Pearson D.M. , Pelan S.E. , Perez L. , Porter K.M. , Ramsey Y. , Reichwald K. , Rhodes S. , Ridler K.A. , Schlessinger D. , Schueler M.G. , Sehra H.K. , Shaw-Smith C. , Shen H. , Sheridan E.M. , Shownkeen R. , Skuce C.D. , Smith M.L. , Sotheran E.C. , Steingruber H.E. , Steward C.A. , Storey R. , Swann R.M. , Swarbreck D. , Tabor P.E. , Taudien S. , Taylor T. , Teague B. , Thomas K. , Thorpe A. , Timms K. , Tracey A. , Trevanion S. , Tromans A.C. , d'Urso M. , Verduzco D. , Villasana D. , Waldron L. , Wall M. , Wang Q. , Warren J. , Warry G.L. , Wei X. , West A. , Whitehead S.L. , Whiteley M.N. , Wilkinson J.E. , Willey D.L. , Williams G. , Williams L. , Williamson A. , Williamson H. , Wilming L. , Woodmansey R.L. , Wray P.W. , Yen J. , Zhang J. , Zhou J. , Zoghbi H. , Zorilla S. , Buck D. , Reinhardt R. , Poustka A. , Rosenthal A. , Lehrach H. , Meindl A. , Minx P.J. , Hillier L.W. , Willard H.F. , Wilson R.K. , Waterston R.H. , Rice C.M. , Vaudin M. , Coulson A. , Nelson D.L. , Weinstock G. , Sulston J.E. , Durbin R.M. , Hubbard T. , Gibbs R.A. , Beck S. , Rogers J. , Bentley D.R. more...
Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Experimental determination of organelle targeting-peptide cleavage sites using transient expression of green fluorescent protein translational fusions."
Candat A. , Poupart P. , Andrieu J.P. , Chevrollier A. , Reynier P. , Rogniaux H. , Avelange-Macherel M.H. , Macherel D.
Anal. Biochem.434:44-51(2013) [PubMed] [Europe PMC] [Abstract]

"X chromosome evidence for ancient human histories."
Harris E.E. , Hey J.
Proc. Natl. Acad. Sci. U.S.A.96:3320-3324(1999) [PubMed] [Europe PMC] [Abstract]

"Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein."
Ito M. , Huq A.H. , Naito E. , Saijo T. , Takeda E. , Kuroda Y.
J. Inherit. Metab. Dis.15:848-856(1992) [PubMed] [Europe PMC] [Abstract]

"Mutagenesis studies of the phosphorylation sites of recombinant human pyruvate dehydrogenase. Site-specific regulation."
Korotchkina L.G. , Patel M.S.
J. Biol. Chem.270:14297-14304(1995) [PubMed] [Europe PMC] [Abstract]

"Site specificity of four pyruvate dehydrogenase kinase isoenzymes toward the three phosphorylation sites of human pyruvate dehydrogenase."
Korotchkina L.G. , Patel M.S.
J. Biol. Chem.276:37223-37229(2001) [PubMed] [Europe PMC] [Abstract]

"Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components."
Hiromasa Y. , Fujisawa T. , Aso Y. , Roche T.E.
J. Biol. Chem.279:6921-6933(2004) [PubMed] [Europe PMC] [Abstract]

"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V. , Blagoev B. , Gnad F. , Macek B. , Kumar C. , Mortensen P. , Mann M.
Cell127:635-648(2006) [PubMed] [Europe PMC] [Abstract]

"Phosphoproteome of resting human platelets."
Zahedi R.P. , Lewandrowski U. , Wiesner J. , Wortelkamp S. , Moebius J. , Schuetz C. , Walter U. , Gambaryan S. , Sickmann A.
J. Proteome Res.7:526-534(2008) [PubMed] [Europe PMC] [Abstract]

"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H. , Olsen J.V. , Bairlein M. , Gnad F. , Oppermann F.S. , Korner R. , Greff Z. , Keri G. , Stemmann O. , Mann M.
Mol. Cell31:438-448(2008) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Dephoure N. , Zhou C. , Villen J. , Beausoleil S.A. , Bakalarski C.E. , Elledge S.J. , Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A.105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S. , Helbig A.O. , Slijper M. , Krijgsveld J. , Heck A.J. , Mohammed S.
Anal. Chem.81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C. , Kumar C. , Gnad F. , Nielsen M.L. , Rehman M. , Walther T.C. , Olsen J.V. , Mann M.
Science325:834-840(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V. , Vermeulen M. , Santamaria A. , Kumar C. , Miller M.L. , Jensen L.J. , Gnad F. , Cox J. , Jensen T.S. , Nigg E.A. , Brunak S. , Mann M.
Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T. , Prokhorova T.A. , Akimov V. , Henningsen J. , Johansen P.T. , Kratchmarova I. , Kassem M. , Mann M. , Olsen J.V. , Blagoev B.
Sci. Signal.4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]

"Structural basis for flip-flop action of thiamin pyrophosphate-dependent enzymes revealed by human pyruvate dehydrogenase."
Ciszak E.M. , Korotchkina L.G. , Dominiak P.M. , Sidhu S. , Patel M.S.
J. Biol. Chem.278:21240-21246(2003) [PubMed] [Europe PMC] [Abstract]

"Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene."
Dahl H.-H.M. , Brown G.K. , Brown R.M. , Hansen L.L. , Kerr D.S. , Wexler I.D. , Patel M.S. , de Meirleir L. , Lissens W. , Chun K. , McKay N. , Robinson B.H.
Hum. Mutat.1:97-102(1992) [PubMed] [Europe PMC] [Abstract]

"Phosphorylation of serine 264 impedes active site accessibility in the E1 component of the human pyruvate dehydrogenase multienzyme complex."
Seifert F. , Ciszak E. , Korotchkina L. , Golbik R. , Spinka M. , Dominiak P. , Sidhu S. , Brauer J. , Patel M.S. , Tittmann K.
Biochemistry46:6277-6287(2007) [PubMed] [Europe PMC] [Abstract]

"Structural basis for inactivation of the human pyruvate dehydrogenase complex by phosphorylation: role of disordered phosphorylation loops."
Kato M. , Wynn R.M. , Chuang J.L. , Tso S.C. , Machius M. , Li J. , Chuang D.T.
Structure16:1849-1859(2008) [PubMed] [Europe PMC] [Abstract]

"Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency."
Hansen L.L. , Brown G.K. , Kirby D.M. , Dahl H.-H.M.
J. Inherit. Metab. Dis.14:140-151(1991) [PubMed] [Europe PMC] [Abstract]

"Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit."
De Meirleir L. , Lissens W. , Vamos E. , Liebaers I.
Hum. Genet.88:649-652(1992) [PubMed] [Europe PMC] [Abstract]

"X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation."
Dahl H.-H.M. , Hansen L.L. , Brown R.M. , Danks D.M. , Rogers J.G. , Brown G.K.
J. Inherit. Metab. Dis.15:835-847(1992) [PubMed] [Europe PMC] [Abstract]

"Molecular genetic characterization of an X-linked form of Leigh's syndrome."
Matthews P.M. , Marchington D.R. , Squier M. , Land J. , Brown R.M. , Brown G.K.
Ann. Neurol.33:652-655(1993) [PubMed] [Europe PMC] [Abstract]

"Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex."
Chun K. , McKay N. , Petrova-Benedict R. , Robinson B.H.
Hum. Mol. Genet.2:449-454(1993) [PubMed] [Europe PMC] [Abstract]

"Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients."
Matthews P.M. , Brown R.M. , Otero L.J. , Marchington D.R. , LeGris M. , Howes R. , Meadows L.S. , Shevell M. , Scriver C.R. , Brown G.K.
Brain117:435-443(1994) [PubMed] [Europe PMC] [Abstract]

"Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit."
Hansen L.L. , Horn N. , Dahl H.-H.M. , Kruse T.A.
Hum. Mol. Genet.3:1021-1022(1994) [PubMed] [Europe PMC] [Abstract]

"Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit."
Dahl H.-H.M. , Brown G.K.
Hum. Mutat.3:152-155(1994) [PubMed] [Europe PMC] [Abstract]

"Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia."
Awata H. , Endo F. , Tanoue A. , Kitano A. , Matsuda I.
J. Inherit. Metab. Dis.17:189-195(1994) [PubMed] [Europe PMC] [Abstract]

"Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex."
Chun K. , MacKay N. , Petrova-Benedict R. , Federico A. , Fois A. , Cole D.E.C. , Robertson E. , Robinson B.H.
Am. J. Hum. Genet.56:558-569(1995) [PubMed] [Europe PMC] [Abstract]

"An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein."
Takakubo F. , Cartwright P. , Hoogenraad N. , Thorburn D.R. , Collins F. , Lithgow T. , Dahl H.-H.M.
Am. J. Hum. Genet.57:772-780(1995) [PubMed] [Europe PMC] [Abstract]

"Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit."
Hemalatha S.G. , Kerr D.S. , Wexler I.D. , Lusk M.M. , Kaung M. , Du Y. , Kolli M. , Schelper R.L. , Patel M.S.
Hum. Mol. Genet.4:315-318(1995) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency."
Lissens W. , de Meirleir L. , Seneca S. , Benelli C. , Marsac C. , Poll-The B.T. , Briones P. , Ruitenbeek W. , van Diggelen O. , Chaigne D. , Ramaekers V. , Liebaers I.
Hum. Mutat.7:46-51(1996) [PubMed] [Europe PMC] [Abstract]

"Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS)."
Tripatara A. , Kerr D.S. , Lusk M.M. , Kolli M. , Tan J. , Patel M.S.
Hum. Mutat.8:180-182(1996) [PubMed] [Europe PMC] [Abstract]

"Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency."
Naito E. , Ito M. , Yokota I. , Saijo T. , Matsuda J. , Osaka H. , Kimura S. , Kuroda Y.
J. Inherit. Metab. Dis.20:539-548(1997) [PubMed] [Europe PMC] [Abstract]

"Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity."
Otero L.J. , Brown R.M. , Brown G.K.
Hum. Mutat.12:114-121(1998) [PubMed] [Europe PMC] [Abstract]

"Diagnostic exome sequencing in persons with severe intellectual disability."
de Ligt J. , Willemsen M.H. , van Bon B.W. , Kleefstra T. , Yntema H.G. , Kroes T. , Vulto-van Silfhout A.T. , Koolen D.A. , de Vries P. , Gilissen C. , del Rosario M. , Hoischen A. , Scheffer H. , de Vries B.B. , Brunner H.G. , Veltman J.A. , Vissers L.E.
N. Engl. J. Med.367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]