Article

Biallelic<i>PARP1</i>Mutations Associated with Childhood-Onset Neurodegeneration

2023-06-09

Abstract excerpt

<h4>Summary</h4> PARP1 is the primary human sensor protein for DNA single-strand breaks, reduced repair of which results in neurodevelopmental and/or progressive neurodegenerative disease typified by cerebellar ataxia, and oculomotor apraxia. Here, we report the first such disease associated with hereditary mutations in PARP1 . The affected individual possesses biallelic mutations in the second DNA strand-break se...

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Literature Corpus work: 3106c0d1-735a-53b5-b546-2ac0f3b94c40
DOI: 10.1101/2023.06.09.23291078

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