Associated Papers
Cytoplasmic binding partners of the Integrator endonuclease INTS11 and its paralog CPSF73 are required for their nuclear function.
Lin MH et al.
Molecular Cell, 2024
Clinical characteristics of BRAT1-related disease: a systematic literature review.
Kong W et al.
Acta Neurologica Belgica, 2024
Neuronal differentiation requires BRAT1 complex to remove REST from chromatin.
Dokaneheifard S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
BRAT1 associates with INTS11/INTS9 heterodimer to regulate key neurodevelopmental genes.
Dokaneheifard S et al.
Biorxiv : the Preprint Server for Biology, 2023
Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
Li S et al.
Molecular Genetics & Genomic Medicine, 2023
BRAT1 links Integrator and defective RNA processing with neurodegeneration.
Cihlarova Z et al.
Nature Communications, 2022
Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.
Li W et al.
Pediatric Research, 2022
Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome.
Qi Y et al.
Frontiers in Genetics, 2022
A review of the clinical spectrum of BRAT1 disorders and case of developmental and epileptic encephalopathy surviving into adulthood.
Fowkes R et al.
Epilepsy & Behavior Reports, 2022
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia.
Mahjoub A et al.
Neurology. Genetics, 2019
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