Article

Functional effects of TBC1 domain containing kinase deletion in immortalized B cells and plasma cells

2023-10-25

Abstract excerpt

TBC1 domain containing kinase (TBCK) is a ubiquitous protein pseudokinase highly expressed in neurons and glial cells. Mutations in TBCK disrupt nervous system function and cause a characteristic syndrome of intellectual disability and hypotonia with various other comorbidities occurring in non-nervous tissues. Previous studies have shown a vacuolation defect present in B cells from individuals with TBCK mutations...

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Literature Corpus work: 4d6a5060-e382-5274-afe6-d043c4c62718
DOI: 10.1101/2023.10.23.563612

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