BRAT1

Publications

Aglipay et al. ATM Activation by Ionizing Radiation Requires BRCA1-associated BAAT1. J Biol Chem. 2006;281(14):9710-8. PMID:16452482.

Mundy SA et al. BRAT1-related disease- identification of a patient without early lethality. Am J Med Genet A. 2016;170(3):699-702. PMID:26494257.

Puffenberger EG et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS ONE. 2012;7(1):e28936. PMID:22279524.

Saitsu H et al. Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. J Hum Genet. 2014;59(12):687-90. PMID:25319849.

Saunders CJ et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 2012;4(154):154ra135. PMID:23035047.

So EY et al. BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction. 2014 Jul 29;14:548. PMID:25070371.

So EY et al. Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit. Exp Ther Med. 2011;2(3):443-447. PMID:22977523.

Srivastava S et al. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016;170(9):2265-73. PMID:27282546.

Straussberg R et al. Lethal neonatal rigidity and multifocal seizure syndrome-report of another family with a BRAT1 mutation. Eur J Paediatr Neurol. 2015;19(2):240-2. PMID:25500575.

van de Pol LA et al. Early-onset severe encephalopathy with epilepsy: The BRAT1 gene should Be added to the list of causes. Neuropediatrics. 2015;46(6):392-400. PMID:26535877.