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Article

Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations.

Scientific reports - 3 Aug 2016

Bianchi Sarah, van Riel Wilhelmina E, Kraatz Sebastian H W, Olieric Natacha, Frey Daniel, Katrukha Eugene A, Jaussi Rolf, Missimer John, Grigoriev Ilya, Olieric Vincent, Benoit Roger M, Steinmetz Michel O, Akhmanova Anna, Kammerer Richard A

Abstract excerpt

Tight regulation of kinesin activity is crucial and malfunction is linked to neurological diseases. Point mutations in the KIF21A gene cause congenital fibrosis of the extraocular muscles type 1 (CFEOM1) by disrupting the autoinhibitory interaction between the motor domain and a regulatory region in the stalk. However, the molecular mechanism underlying the misregulation of KIF21A activity in CFEOM1 is not...

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Source

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Identifiers

PMID: 27485312
DOI: 10.1038/srep30668
PMCID: PMC4971492

Genes

KIF27
KIF7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations.PMID 27485312Read ↗

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