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Effect of Pathogenic Mutations on the Formation of High-Order Dynamin 2 Assemblies in Living Cells.

Biochemistry - 5 Nov 2024

Hedde Per Niklas, Zhu Songning, Barylko Barbara, Chiu Chi-Li, Nelson Luke T, Digman Michelle A, Albanesi Joseph P, James Nicholas G, Jameson David M

Abstract excerpt

Mutations in dynamin 2 (DNM2) have been associated with two distinct movement disorders: Charcot-Marie-Tooth neuropathies (CMT) and centronuclear myopathy (CNM). Most of these mutations are clustered in the pleckstrin homology domain (PHD), which engages in intramolecular interactions that limit dynamin self-assembly and GTPase activation. CNM mutations interfere with these intramolecular interactions and...

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PMID: 39390788
DOI: 10.1021/acs.biochem.4c00262

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Effect of Pathogenic Mutations on the Formation of High-Order Dynamin 2 Assemblies in Living Cells.PMID 39390788Read ↗

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