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Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.

Oatts JT, Duncan JL, Hoyt CS, Slavotinek AM, Moore AT.

Ophthalmic Genet. 2017 Dec;38(6):559-561. doi: 10.1080/13816810.2017.1290118. Epub 2017 Mar 2.


BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.

Smith NJ, Lipsett J, Dibbens LM, Heron SE.

Am J Med Genet A. 2016 Nov;170(11):3033-3038. doi: 10.1002/ajmg.a.37853. Epub 2016 Aug 2.


BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Horn D, Weschke B, Knierim E, Fischer-Zirnsak B, Stenzel W, Schuelke M, Zemojtel T.

Am J Med Genet A. 2016 Sep;170(9):2274-81. doi: 10.1002/ajmg.a.37798. Epub 2016 Jun 9. Review.


BRAT1 mutations present with a spectrum of clinical severity.

Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S.

Am J Med Genet A. 2016 Sep;170(9):2265-73. doi: 10.1002/ajmg.a.37783. Epub 2016 Jun 9. Review.


Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

van de Pol LA, Wolf NI, van Weissenbruch MM, Stam CJ, Weiss JM, Waisfisz Q, Kevelam SH, Bugiani M, van de Kamp JM, van der Knaap MS.

Neuropediatrics. 2015 Dec;46(6):392-400. doi: 10.1055/s-0035-1564791. Epub 2015 Nov 4.


Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.

Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N, Matsumoto N.

J Hum Genet. 2014 Dec;59(12):687-90. doi: 10.1038/jhg.2014.91. Epub 2014 Oct 16.


BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction.

So EY, Ouchi T.

BMC Cancer. 2014 Jul 29;14:548. doi: 10.1186/1471-2407-14-548.


Structural basis for the BRCA1 BRCT interaction with the proteins ATRIP and BAAT1.

Liu X, Ladias JA.

Biochemistry. 2013 Oct 29;52(43):7618-27. doi: 10.1021/bi400714v. Epub 2013 Oct 16.


The Potential Role of BRCA1-Associated ATM Activator-1 (BRAT1) in Regulation of mTOR.

So EY, Ouchi T.

J Cancer Biol Res. 2013 Jul-Aug;1(1). pii: 1001.


ATM activation by ionizing radiation requires BRCA1-associated BAAT1.

Aglipay JA, Martin SA, Tawara H, Lee SW, Ouchi T.

J Biol Chem. 2006 Apr 7;281(14):9710-8. Epub 2006 Feb 1.


Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit.

So EY, Ouchi T.

Exp Ther Med. 2011 May;2(3):443-447. Epub 2011 Mar 21.


Genetic mapping and exome sequencing identify variants associated with five novel diseases.

Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA.

PLoS One. 2012;7(1):e28936. doi: 10.1371/journal.pone.0028936. Epub 2012 Jan 17.


Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage response.

Low LH, Chow YL, Li Y, Goh CP, Putz U, Silke J, Ouchi T, Howitt J, Tan SS.

J Biol Chem. 2015 Mar 13;290(11):7141-50. doi: 10.1074/jbc.M114.613687. Epub 2015 Jan 28.


HSP90 Shapes the Consequences of Human Genetic Variation.

Karras GI, Yi S, Sahni N, Fischer M, Xie J, Vidal M, D'Andrea AD, Whitesell L, Lindquist S.

Cell. 2017 Feb 23;168(5):856-866.e12. doi: 10.1016/j.cell.2017.01.023. Epub 2017 Feb 16.


VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells.

Yu CC, Yang JC, Chang YC, Chuang JG, Lin CW, Wu MS, Chow LP.

PLoS One. 2013;8(1):e55724. doi: 10.1371/journal.pone.0055724. Epub 2013 Jan 31.


A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP.

Nat Biotechnol. 2006 Oct;24(10):1285-92. Epub 2006 Sep 10.


ATPase-Modulated Stress Granules Contain a Diverse Proteome and Substructure.

Jain S, Wheeler JR, Walters RW, Agrawal A, Barsic A, Parker R.

Cell. 2016 Jan 28;164(3):487-98. doi: 10.1016/j.cell.2015.12.038. Epub 2016 Jan 14.


Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA, Butte NF.

PLoS One. 2012;7(12):e51954. doi: 10.1371/journal.pone.0051954. Epub 2012 Dec 14.


Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.

Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S.

Genome Res. 2004 Sep;14(9):1711-8.


A high-throughput approach for measuring temporal changes in the interactome.

Kristensen AR, Gsponer J, Foster LJ.

Nat Methods. 2012 Sep;9(9):907-9. doi: 10.1038/nmeth.2131. Epub 2012 Aug 5.

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