Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro.

Journal of the peripheral nervous system : JPNS - 1 Sept 2023

Stavropoulos Filippos, Georgiou Elena, Schiza Natasa, Bell Shaughn, Baloh Robert H, Kleopa Kleopas A, Sargiannidou Irene

Abstract excerpt

BACKGROUND AND AIMS: Mitofusin 1 (MFN1) and MFN2 are outer mitochondrial membrane fusogenic proteins regulating mitochondrial network morphology. MFN2 mutations cause Charcot-Marie-Tooth type 2A (CMT2A), an axonal neuropathy characterized by mitochondrial fusion defects, which in the case of a GTPase domain mutant, were rescued following wild-type MFN1/2 (MFN1/2WT ) overexpression. In this study, we compared the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Charcot-Marie-Tooth Disease
Share to GTP Phosphohydrolases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondria

Share to Mitochondrial Dynamics

Share to Mitochondrial Proteins

Share to Mutation

Share to Neuroblastoma

Source

Identifiers

PMID: 37220142
DOI: 10.1111/jns.12564

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro.PMID 37220142Read ↗

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.Semantic proximity Read ↗

Combined RNA interference and gene replacement therapy targeting MFN2 for the treatment of Charcot-Marie-Tooth type 2ASemantic proximity Read ↗

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.Semantic proximity Read ↗

Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.Semantic proximity Read ↗

Gene therapy-mediated overexpression of wild-type MFN2 improves Charcot-Marie-Tooth disease type 2ASemantic proximity Read ↗

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.Semantic proximity Read ↗

Non-coding exon splicing orchestrates tissue-specific expression of two functionally distinct mitochondrial isoforms of Mitofusin 2Semantic proximity Read ↗

Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults.Semantic proximity Read ↗

CMT2A-linked MFN2 mutation, T206I promotes mitochondrial hyperfusion and predisposes cells towards mitophagy.Semantic proximity Read ↗

Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A.Semantic proximity Read ↗

Mitofusin 2 Dysfunction and Disease in Mice and MenSemantic proximity Read ↗

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.