Discover Community Create You

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

Defective nucleotide-dependent assembly and membrane fusion in Mfn2 CMT2A variants improved by Bax.

Life science alliance - 1 May 2020

Samanas Nyssa B, Engelhart Emily A, Hoppins Suzanne

Abstract excerpt

Mitofusins are members of the dynamin-related protein family of large GTPases that harness the energy from nucleotide hydrolysis to remodel membranes. Mitofusins possess four structural domains, including a GTPase domain, two extended helical bundles (HB1 and HB2), and a transmembrane region. We have characterized four Charcot-Marie-Tooth type 2A-associated variants with amino acid substitutions in Mfn2 that are...

Read the complete abstract on PubMed

Topics

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

Share to bcl-2-Associated X Protein
Share to Charcot-Marie-Tooth Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP Phosphohydrolases

Share to Membrane Fusion

Share to Mitochondria

Share to Mitochondrial Proteins

Share to Nucleotides

Share to Protein Domains

Source

Open in PubMed Open full text

Identifiers

PMID: 32245838
DOI: 10.26508/lsa.201900527
PMCID: PMC7136618

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Defective nucleotide-dependent assembly and membrane fusion in Mfn2 CMT2A variants improved by Bax.PMID 32245838Read ↗

Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.Semantic proximity Read ↗

Structural basis for GTP hydrolysis and conformational change of MFN1 in mediating membrane fusion.Semantic proximity Read ↗

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

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

A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth type 2ASemantic proximity Read ↗

CMT2A-linked mitochondrial hyperfusion-driving mutant MFN2 perturbs ER-mitochondrial associations and Ca2+ homeostasis.Semantic proximity Read ↗

A loss-of-function mutation in the GTPase domain of <i>MFN2</i> , perverting mitochondrial dynamics, is associated with dilated cardiomyopathySemantic proximity Read ↗

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

Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.Semantic proximity Read ↗

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

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

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

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