Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion Lumos
ORGANISM(S): Mus Musculus (mouse)
TISSUE(S): Cerebellum
DISEASE(S): Neurodevelopmental Abnormality
SUBMITTER: Brandon Gassaway
LAB HEAD: Steven Gygi
PROVIDER: PXD016683 | Pride | 2023-03-10
REPOSITORIES: Pride
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Ferguson Cole J CJ Urso Olivia O Bodrug Tatyana T Gassaway Brandon M BM Watson Edmond R ER Prabu Jesuraj R JR Lara-Gonzalez Pablo P Martinez-Chacin Raquel C RC Wu Dennis Y DY Brigatti Karlla W KW Puffenberger Erik G EG Taylor Cora M CM Haas-Givler Barbara B Jinks Robert N RN Strauss Kevin A KA Desai Arshad A Gabel Harrison W HW Gygi Steven P SP Schulman Brenda A BA Brown Nicholas G NG Bonni Azad A
Molecular cell 20211222 1
Neurodevelopmental cognitive disorders provide insights into mechanisms of human brain development. Here, we report an intellectual disability syndrome caused by the loss of APC7, a core component of the E3 ubiquitin ligase anaphase promoting complex (APC). In mechanistic studies, we uncover a critical role for APC7 during the recruitment and ubiquitination of APC substrates. In proteomics analyses of the brain from mice harboring the patient-specific APC7 mutation, we identify the chromatin-ass ...[more]