A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot–Marie-Tooth disease of type 2 A

Abstract Charcot–Marie-Tooth Disease (CMT) is an inherited peripheral neuropathy with two main forms: demyelinating CMT1 and axonal CMT2. The most frequent subtype of CMT2 (CMT2A) is linked to mutations of MFN2, encoding a ubiquitously expressed GTP-binding protein anchored to the mitochondrial oute...

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Bibliographic Details
Published in:Scientific Reports
Main Authors: Chloe Barsa, Julian Perrin, Claudine David, Arnaud Mourier, Manuel Rojo
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Subjects:
Mitochondrial fusion
Mitochondrial dynamics
Charcot–Marie-Tooth disease
CMT2A
MFN2
Single nucleotide variants
Online Access:https://doi.org/10.1038/s41598-025-93702-1

Internet

https://doi.org/10.1038/s41598-025-93702-1

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