"An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease."
Yan S.D. , Fu J. , Soto C. , Chen X. , Zhu H. , Al-Mohanna F. , Collinson K. , Zhu A. , Stern E. , Saido T. , Tohyama M. , Ogawa S. , Roher A. , Stern D.
Nature389:689-695(1997) [PubMed] [Europe PMC] [Abstract]

Zhuchenko O.P. , Wehnert M. , Bailey J. , Sun Z.S. , Lee C.C.
Submitted (1997-01) to the EMBL/GenBank/DDBJ databases

"Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation."
Miller A.P. , Willard H.F.
Proc. Natl. Acad. Sci. U.S.A.95:8709-8714(1998) [PubMed] [Europe PMC] [Abstract]

"A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to an amyloid beta-peptide-binding protein involved in Alzheimer's disease."
He X.Y. , Schulz H. , Yang S.Y.
J. Biol. Chem.273:10741-10746(1998) [PubMed] [Europe PMC] [Abstract]

"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L. , Schick M. , Neubert P. , Schatten R. , Henze S. , Korn B.
Submitted (2004-06) 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]

"Expression, release and induction of endoplasmic reticulum-associated amyloid beta-binding protein in brain disease."
Deininger M.H. , Meyermann R. , Schluesener H.J.
Submitted (2002-03) to the EMBL/GenBank/DDBJ databases

"Expanded substrate screenings of human and Drosophila type 10 17beta-hydroxysteroid dehydrogenases (HSDs) reveal multiple specificities in bile acid and steroid hormone metabolism: characterization of multifunctional 3alpha/7alpha/7beta/17beta/20beta/21-HSD."
Shafqat N. , Marschall H.U. , Filling C. , Nordling E. , Wu X.Q. , Bjork L. , Thyberg J. , Martensson E. , Salim S. , Jornvall H. , Oppermann U.
Biochem. J.376:49-60(2003) [PubMed] [Europe PMC] [Abstract]

"The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior."
Lenski C. , Kooy R.F. , Reyniers E. , Loessner D. , Wanders R.J.A. , Winnepenninckx B. , Hellebrand H. , Engert S. , Schwartz C.E. , Meindl A. , Ramser J.
Am. J. Hum. Genet.80:372-377(2007) [PubMed] [Europe PMC] [Abstract]

"Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation."
Froyen G. , Corbett M. , Vandewalle J. , Jarvela I. , Lawrence O. , Meldrum C. , Bauters M. , Govaerts K. , Vandeleur L. , Van Esch H. , Chelly J. , Sanlaville D. , van Bokhoven H. , Ropers H.-H. , Laumonnier F. , Ranieri E. , Schwartz C.E. , Abidi F. , Tarpey P.S. , Futreal P.A. , Whibley A. , Raymond F.L. , Stratton M.R. , Fryns J.-P. , Scott R. , Peippo M. , Sipponen M. , Partington M. , Mowat D. , Field M. , Hackett A. , Marynen P. , Turner G. , Gecz J. more...
Am. J. Hum. Genet.82:432-443(2008) [PubMed] [Europe PMC] [Abstract]

"RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme."
Holzmann J. , Frank P. , Loeffler E. , Bennett K.L. , Gerner C. , Rossmanith W.
Cell135:462-474(2008) [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]

"Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics."
Kissinger C.R. , Rejto P.A. , Pelletier L.A. , Thomson J.A. , Showalter R.E. , Abreo M.A. , Agree C.S. , Margosiak S. , Meng J.J. , Aust R.M. , Vanderpool D. , Li B. , Tempczyk-Russell A. , Villafranca J.E.
J. Mol. Biol.342:943-952(2004) [PubMed] [Europe PMC] [Abstract]

"ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease."
Lustbader J.W. , Cirilli M. , Lin C. , Xu H.W. , Takuma K. , Wang N. , Caspersen C. , Chen X. , Pollak S. , Chaney M. , Trinchese F. , Liu S. , Gunn-Moore F. , Lue L.-F. , Walker D.G. , Kuppusamy P. , Zewier Z.L. , Arancio O. , Stern D. , Yan S.-S. , Wu H. more...
Science304:448-452(2004) [PubMed] [Europe PMC] [Abstract]

"2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene."
Ofman R. , Ruiter J.P.N. , Feenstra M. , Duran M. , Poll-The B.T. , Zschocke J. , Ensenauer R. , Lehnert W. , Sass J.O. , Sperl W. , Wanders R.J.A.
Am. J. Hum. Genet.72:1300-1307(2003) [PubMed] [Europe PMC] [Abstract]

"2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease."
Perez-Cerda C. , Garcia-Villoria J. , Ofman R. , Sala P.R. , Merinero B. , Ramos J. , Garcia-Silva M.T. , Beseler B. , Dalmau J. , Wanders R.J.A. , Ugarte M. , Ribes A.
Pediatr. Res.58:488-491(2005) [PubMed] [Europe PMC] [Abstract]

Perez-Cerda C. , Garcia-Villoria J. , Ofman R. , Sala P.R. , Merinero B. , Ramos J. , Garcia-Silva M.T. , Beseler B. , Dalmau J. , Wanders R.J. , Ugarte M. , Ribes A.
Pediatr. Res.59:162-162(2006)