Article

Multifaceted fusion defects converge on altered mitochondrial distribution and increased mutant mitofusin level in CMT2A models

2025-03-17

Abstract excerpt

Charcot-Marie-Tooth type 2A neuropathy (CMT2A) is caused by a hundred different missense mutations in the mitofusin MFN2, a mitochondrial fusion factor. It is well established that different CMT2A alleles expressed in mitofusin deficient cells can exhibit varying levels of fusion activity. However, most CMT2A mutations are dominant. Therefore, to picture the complexity of CMT2A pathogenesis, it is crucial to defin...

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Literature Corpus work: e9153e4c-b59b-5772-889e-343d56760113
DOI: 10.1101/2025.03.14.642792

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