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 disease of type 2 A
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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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...
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A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot–Marie-Tooth disease of type 2 A
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TN_cdi_doaj_primary_oai_doaj_org_article_4f2da19216a84847b4bdc2c19dd9b62d
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4f2da19216a84847b4bdc2c19dd9b62d
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-025-93702-1