Search results for "BUB1"

showing 2 items of 2 documents

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

2022

Funder: Università degli Studi di Catania

BUB1B gene Epileptic seizure Microcephaly Mosaic variegated aneuploidy 1 (MVA1) syndrome Ovary cystMosaicismCell Cycle ProteinsOvary cystDermatologyGeneral MedicineSyndromeBUB1B geneProtein Serine-Threonine KinasesAneuploidyPsychiatry and Mental healthSeizuresMosaic variegated aneuploidy 1 (MVA1) syndromeMutationEpileptic seizureMicrocephalyHumansNeurology (clinical)Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
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An Attachment-Independent Biochemical Timer of the Spindle Assembly Checkpoint.

2017

The spindle assembly checkpoint (SAC) generates a diffusible protein complex that prevents anaphase until all chromosomes are properly attached to spindle microtubules. A key step in SAC initiation is the recruitment of MAD1 to kinetochores, which is generally thought to be governed by the microtubule-kinetochore (MT-KT) attachment status. However, we demonstrate that the recruitment of MAD1 via BUB1, a conserved kinetochore receptor, is not affected by MT-KT interactions in human cells. Instead, BUB1:MAD1 interaction depends on BUB1 phosphorylation, which is controlled by a biochemical timer that integrates counteracting kinase and phosphatase effects on BUB1 into a pulse-generating incohe…

0301 basic medicineMad1KinetochoreBUB1Nuclear ProteinsCell Cycle ProteinsCell BiologySpindle ApparatusBiologyProtein Serine-Threonine KinasesCell biologySpindle apparatus03 medical and health sciencesSpindle checkpoint030104 developmental biology0302 clinical medicineHEK293 CellsHumansTimerKinetochoresMolecular BiologyMitosis030217 neurology & neurosurgeryAnaphaseHeLa CellsMolecular cell
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