Varaico: Literature-Extracted Genetic Variants

Gene:MFN1
Variant:p.K88T
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MFN1

NM_033540.3:p.K88T

Associated Papers

A dominant negative mitofusin causes mitochondrial perinuclear clusters because of aberrant tethering.

Sloat SR et al.

Life Science Alliance, 2023

FUNDC2 promotes liver tumorigenesis by inhibiting MFN1-mediated mitochondrial fusion.

Li S et al.

Nature Communications, 2022

Mitochondrial-derived vesicles compensate for loss of LC3-mediated mitophagy.

Towers CG et al.

Developmental Cell, 2021

Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamily.

Stafa K et al.

Human Molecular Genetics, 2014

Mitofusin 1 inhibits an apoptosis-associated amino-terminal conformational change in Bax, but not its mitochondrial translocation, in a GTPase-dependent manner.

Ryu SW et al.

Cancer Letters, 2012

Mitochondrial dynamics in cell death and neurodegeneration.

Cho DH et al.

Cellular and Molecular Life Sciences : Cmls, 2010

GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.

Niemann A et al.

Neurobiology of Disease, 2009

Mitochondrial dynamics in mammalian health and disease.

Liesa M et al.

Physiological Reviews, 2009

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.

Niemann A et al.

The Journal of Cell Biology, 2005

Disruption of fusion results in mitochondrial heterogeneity and dysfunction.

Chen H et al.

The Journal of Biological Chemistry, 2005

Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells.

Santel A et al.

Journal of Cell Science, 2003

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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."