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A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot–Marie-Tooth dis...

A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot–Marie-Tooth dis...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4f2da19216a84847b4bdc2c19dd9b62d

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

About this item

Full title

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

Publisher

London: Nature Publishing Group UK

Journal title

Scientific reports, 2025-03, Vol.15 (1), p.9971-13, Article 9971

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

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 outer membrane and essential for mitochondrial fusion. T...

Alternative Titles

Full title

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

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_4f2da19216a84847b4bdc2c19dd9b62d

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4f2da19216a84847b4bdc2c19dd9b62d

Other Identifiers

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-025-93702-1

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