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Article

Impairment of DET1 causes neurological defects and lethality in mice and humans.

Proceedings of the National Academy of Sciences of the United States of America - 18 Feb 2025

Karayel Ozge, Soung Allison, Gurung Hem, Schubert Alexander F, Klaeger Susan, Kschonsak Marc, Al-Maraghi Aljazi, Bhat Ajaz A, Alshabeeb Akil Ammira S, Dugger Debra L, Webster Joshua D, French Dorothy M, Anand Dhullipala, Soni Naharmal, Fakhro Khalid A, Rose Christopher M, Harris Seth F, Ndoja Ada, Newton Kim, Dixit Vishva M

Abstract excerpt

COP1 and DET1 are components of an E3 ubiquitin ligase that is conserved from plants to humans. Mammalian COP1 binds to DET1 and is a substrate adaptor for the CUL4A-DDB1-RBX1 RING E3 ligase. Transcription factor substrates, including c-Jun, ETV4, and ETV5, are targeted for proteasomal degradation to effect rapid transcriptional changes in response to cues such as growth factor deprivation. Here, we link a...

Read the complete abstract on PubMed

Topics

Animals
Humans
Mice
DNA-Binding Proteins
Neurons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mutation

Nuclear Proteins

Microglia

Induced Pluripotent Stem Cells

Source

Open in PubMed Open full text

Identifiers

PMID: 39937864
DOI: 10.1073/pnas.2422631122
PMCID: PMC11848315

Genes

DET1
DDB1
COP1
ETV4
ETV5
CUL4A
DDA1
RBX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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