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Article

Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.

Human molecular genetics - 1 Nov 2018

Whitley Brittany N, Lam Christina, Cui Hong, Haude Katrina, Bai Renkui, Escobar Luis, Hamilton Afifa, Brady Lauren, Tarnopolsky Mark A, Dengle Lauren, Picker Jonathan, Lincoln Sharyn, Lackner Laura L, Glass Ian A, Hoppins Suzanne

Abstract excerpt

Mitochondrial dynamics, including mitochondrial division, fusion and transport, are integral parts of mitochondrial and cellular function. DNM1L encodes dynamin-related protein 1 (Drp1), a member of the dynamin-related protein family that is required for mitochondrial division. Several de novo mutations in DNM1L are associated with a range of disease states. Here we report the identification of five patients with...

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Identifiers

PMID: 30085106
DOI: 10.1093/hmg/ddy287
PMCID: PMC6196655

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Source receipt: pubmed, retrieved 7 Sept 2026.

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