Article

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

2024-01-09

Abstract excerpt

<h4>SUMMARY</h4> SPOUT1/CENP-32 encodes a putative SPOUT RNA methyltransferase previously identified as a mitotic chromosome associated protein. SPOUT1/CENP-32 depletion leads to centrosome detachment from the spindle poles and chromosome misalignment. Aided by gene matching platforms, we identified 24 individuals with neurodevelopmental delays from 18 families with bi-allelic variants in SPOUT1/CENP-32 detected b...

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Literature Corpus work: df09a0a8-b88a-56c2-85d3-b56db631e829
DOI: 10.1101/2024.01.09.23300329

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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSDOI 10.1101/2024.01.09.23300329Read

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