Varaico: Literature-Extracted Genetic Variants

Gene:MFN1
Variant:p.T109A
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MFN1

NM_033540.3:p.T109A

Associated Papers

A catalytic domain variant of mitofusin requiring a wildtype paralog for function uncouples mitochondrial outer-membrane tethering and fusion.

Engelhart EA et al.

The Journal of Biological Chemistry, 2019

Structural basis for GTP hydrolysis and conformational change of MFN1 in mediating membrane fusion.

Yan L et al.

Nature Structural & Molecular Biology, 2018

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

Defective mitochondrial function and motility due to mitofusin 1 overexpression in insulin secreting cells.

Park KS et al.

The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2012

Dynamin-related protein 1 and mitochondrial fragmentation in neurodegenerative diseases.

Reddy PH et al.

Brain Research Reviews, 2011

Loss of MARCH5 mitochondrial E3 ubiquitin ligase induces cellular senescence through dynamin-related protein 1 and mitofusin 1.

Park YY et al.

Journal of Cell Science, 2010

Mitochondrial dynamics in mammalian health and disease.

Liesa M et al.

Physiological Reviews, 2009

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."