| Neuronal differentiation requires BRAT1 complex to remove REST from chromatin. | Neuronal differentiation requires BRAT1 complex to remove REST from chromatin.
Dokaneheifard S, Gomes Dos Santos H, Guiselle Valencia M, Arigela H, Edupuganti RR, Shiekhattar R., | 06/12/2024 |
| BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J., Free PMC Article | 09/6/2023 |
| Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. | Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, Cilio MR., Free PMC Article | 03/27/2023 |
| Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome. | Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
Li S, Yu S, Zhang Y, Wang Y, Jiang X, Wu C., Free PMC Article | 01/21/2023 |
| BRAT1 links Integrator and defective RNA processing with neurodegeneration. | BRAT1 links Integrator and defective RNA processing with neurodegeneration.
Cihlarova Z, Kubovciak J, Sobol M, Krejcikova K, Sachova J, Kolar M, Stanek D, Barinka C, Yoon G, Caldecott KW, Hanzlikova H., Free PMC Article | 09/3/2022 |
| Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. | Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Nuovo S, Baglioni V, De Mori R, Tardivo S, Caputi C, Ginevrino M, Micalizzi A, Masuelli L, Federici G, Casella A, Lorefice E, Anello D, Tolve M, Farini D, Bertini E, Zanni G, Travaglini L, Vasco G, Sette C, Carducci C, Valente EM, Leuzzi V. | 07/16/2022 |
| A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal. | A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal.
Pourahmadiyan A, Heidari M, Shojaaldini Ardakani H, Noorian S, Savad S. | 04/30/2022 |
| Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome. | Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.
Li W, Wu S, Xu H, Zhao X, Pan Y, Huang H, Lv H, Zhu X, Liu Y. | 04/16/2022 |
| BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. | BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
Scheffer IE, Boysen KE, Schneider AL, Myers CT, Mehaffey MG, Rochtus AM, Yuen YP, Ronen GM, Chak WK, Gill D, Poduri A, Mefford HC. | 12/19/2020 |
| A first reported case of Chinese origin was identified with a BRAT1 mutation linked to lethal neonatal rigidity and multifocal seizure syndrome. | BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.
Van Ommeren RH, Gao AF, Blaser SI, Chitayat DA, Hazrati LN. | 10/5/2019 |
| The neuropathology is extensively discussed and hypotheses put forward that may shed light on etiology of brain symptomatology within the context of BRAT1 mutations | Clinico-pathological correlation in case of BRAT1 mutation.
Szymańska K, Laure-Kamionowska M, Szczałuba K, Koppolu A, Furmanek M, Kuśmierska K, Boniel S, Płoski R, Rydzanicz M. | 06/1/2019 |
| Using primary fibroblasts and neurons reprogrammed from induced pluripotent stem cells derived from familial Alzheimer's disease (FAD) patients, studied role of BRCA1 protein underlying molecular neurodegeneration. Whole-transcriptome approach showed disturbances in cell cycle and DNA damage response in FAD fibroblasts; increased BRCA1 Ser1524 phosphorylated and abnormal PSEN1 ubiquitination and subcellular distribution. | Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer's Disease.
Wezyk M, Szybinska A, Wojsiat J, Szczerba M, Day K, Ronnholm H, Kele M, Berdynski M, Peplonska B, Fichna JP, Ilkowski J, Styczynska M, Barczak A, Zboch M, Filipek-Gliszczynska A, Bojakowski K, Skrzypczak M, Ginalski K, Kabza M, Makalowska I, Barcikowska-Kotowicz M, Wojda U, Falk A, Zekanowski C. | 03/30/2019 |
| Biallelic sequence variants in BRAT1 have been reported to cause a variety of ocular and systemic manifestations, but to our knowledge, this is the first report of inner retinal dysfunction manifest as selective loss of full-field ERG scotopic and photopic b-wave amplitudes. | Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.
Oatts JT, Duncan JL, Hoyt CS, Slavotinek AM, Moore AT. | 12/2/2017 |
| our data expand the clinical symptoms and demonstrate variability in the natural clinical course of BRAT1-associated phenotypes. Patients with early onset seizures, postnatal microcephaly, feeding problems, and muscular hypertonia or contractures should hence be screened for BRAT1 mutations. | 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. | 10/21/2017 |
| compared with RMFSL, BRAT1 mutations can result in both moderately severe presentations evident by later-onset epilepsy and survival past infancy, as well as milder presentations that include intellectual disability, ataxia/dyspraxia, and cerebellar atrophy. | 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., Free PMC Article | 10/21/2017 |
| we report two affected siblings with compound heterozygous truncating mutations in BRAT1 and intra-familial phenotypic heterogeneity, with a less severe disease course in the female sibling. This phenotypic variability should be taken into account when treating patients with BRAT1-associated neurodegenerative disease. | BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.
Smith NJ, Lipsett J, Dibbens LM, Heron SE. | 10/21/2017 |
| We conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalopathy with epilepsy. | 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. | 09/10/2016 |
| Our results further support that mutations of BRAT1 could lead to epileptic encephalopathy. | 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. | 08/22/2015 |
| Ndfip1 is required during stress for ubiquitinating and trafficking BRAT1 into the nucleus. | 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., Free PMC Article | 05/30/2015 |
| Findings suggest novel roles of BRAT1 in cell proliferation and mitochondrial functions. | BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction.
So EY, Ouchi T., Free PMC Article | 04/11/2015 |
| Data on crystal structure of BRCA1 binding with phosphopeptides suggest that C-terminal domain of BRCA1 interacts with BAAT1 and ATRIP with preferences for specific side chains; in BAAT1, phospho-Ser269 and Phe272 are the main interacting residues. | Structural basis for the BRCA1 BRCT interaction with the proteins ATRIP and BAAT1.
Liu X, Ladias JA. | 02/15/2014 |
| Study identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS. | 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., Free PMC Article | 07/14/2012 |