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A rare genetic disorder provides insights into mechanisms of early-onset neurodegeneration

2023-05-24

Abstract excerpt

Xeroderma pigmentosum (XP) is characterized by defective repair of ultraviolet radiation(UVR)-induced DNA damage. Patients have UVR hypersensitivity and increased skin cancer risk. Effective photoprotection has reduced childhood cancer-related deaths, but revealed adolescence-onset neurodegeneration, arising through unknown mechanisms. Here, we investigate XP neurodegeneration using pluripotent stem cells derived...

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Identifiers and source

Literature Corpus work
94c0e7d9-a29b-5958-b7aa-baeec2492f40
DOI
10.1101/2023.05.22.23290124
Open publication

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A rare genetic disorder provides insights into mechanisms of early-onset neurodegenerationDOI 10.1101/2023.05.22.23290124
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