AOA2

AOA2

Abbreviation for:
ataxia with oculomotor apraxia type 2
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The focus of this ERC proposal is: (i) to determine the mechanism of action and high-resolution structure of the BRCA2 tumour suppressor, and to provide a detailed picture of the interplay between BRCA2, PALB2, RAD51AP1 and the RAD51 paralogs, in terms of RAD51 filament assembly, using biochemical, electron microscopic and cell biological approaches, (ii) to determine the biological role of a unique structure-selective tri-nuclease complex (SLX1-SLX4-MUS81-EME1-XPF-ERCC1), with particular emphasis on its roles in DNA crosslink repair and Fanconi anemia, and (iii) to understand the actions of Senataxin, which is defective in AOA2, in protecting against genome instability in neuronal cells.
62507_83156delins25) was perfectly coincident with that previously described in an unrelated AOA2 patient (31), confirming that deleterious copy-number changes are not infrequent occurrences in SETX(32).
By detecting a wide heterozygous intragenic deletion in SETX, we confirmed the clinical diagnosis of AOA2 for patient no.