Articles with "distinct ataxia" as a keyword



Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder.

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Published in 2024 at "Human molecular genetics"

DOI: 10.1093/hmg/ddae101

Abstract: The MRE11/RAD50/NBS1 (MRN) complex plays critical roles in cellular responses to DNA double-strand breaks. MRN is involved in end binding and processing, and it also induces cell cycle checkpoints by activating the ataxia-telangiectasia mutated (ATM)… read more here.

Keywords: disease; telangiectasia like; distinct ataxia; ataxia telangiectasia ... See more keywords