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De novo variants in the<i>PSMC3</i>proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies

2021-12-07

Abstract excerpt

A critical step in preserving protein homeostasis by the ubiquitin-proteasome system (UPS) is the recognition, binding, unfolding, and translocation of protein substrates by AAA-ATPase proteasome subunits for degradation by 26S proteasomes. Here, we identified fourteen different de novo missense variants in the PSMC3 gene encoding the AAA-ATPase proteasome subunit Rpt5 in twenty-two unrelated heterozygous subjects...

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Identifiers and source

Literature Corpus work
0f926423-545b-5a78-a233-38576420d03b
DOI
10.1101/2021.12.07.21266342
Open publication

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