Varaico: Literature-Extracted Genetic Variants

Gene:DNM1L
Variant:p.K38E
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DNM1L

NM_012062.5:p.K38E

Associated Papers

Tissue-specific modulation of mitochondrial DNA segregation by a defect in mitochondrial division.

Jokinen R et al.

Human Molecular Genetics, 2016

Loss of the Parkinson's disease-linked gene DJ-1 perturbs mitochondrial dynamics.

Irrcher I et al.

Human Molecular Genetics, 2010

Proteolytic processing of OPA1 links mitochondrial dysfunction to alterations in mitochondrial morphology.

Duvezin-Caubet S et al.

The Journal of Biological Chemistry, 2006

Activated mitofusin 2 signals mitochondrial fusion, interferes with Bax activation, and reduces susceptibility to radical induced depolarization.

Neuspiel M et al.

The Journal of Biological Chemistry, 2005

Identification and functional characterization of a novel human protein highly related to the yeast dynamin-like GTPase Vps1p.

Imoto M et al.

Journal of Cell Science, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."