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

ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway.

Scientific reports - 25 Oct 2024

Lin Chuang-Yu, Liang Wen-Chen, Yu Yi-Chen, Chang Shin-Cheng, Lai Ming-Chi, Jong Yuh-Jyh

Abstract excerpt

The most common mutation in southern Chinese individuals with late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD; a fatty acid metabolism disorder) is c.250G > A (p.Ala84Thr) in the electron transfer flavoprotein dehydrogenase gene (ETFDH). Various phenotypes, including episodic weakness or rhabdomyolysis, exercise intolerance, and peripheral neuropathy, have been reported in both muscular and...

Read the complete abstract on PubMed

Topics

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

Share to Apoptosis
Share to Cell Line
Share to Electron-Transferring Flavoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Iron-Sulfur Proteins

Share to Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Share to Oxidoreductases Acting on CH-NH Group Donors

Share to Proto-Oncogene Proteins c-bcl-2

Share to Ubiquinone

Source

Open in PubMed Open full text

Identifiers

PMID: 39455656
DOI: 10.1038/s41598-024-75286-4
PMCID: PMC11511830

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway.PMID 39455656Read ↗

Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.Semantic proximity Read ↗

Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.Semantic proximity Read ↗

Protective Effect of Mitochondrial ND2 C5178A Gene Mutation on Cell and Mitochondrial Functions.Semantic proximity Read ↗

Reactive nitrogen species inhibit branched chain alpha-ketoacid dehydrogenase complex and impact muscle cell metabolismSemantic proximity Read ↗

BCL-2 family members in the development and degenerative pathologies of the nervous systemSemantic proximity Read ↗

Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid β-oxidation, and attenuates NLRP3 inflammasome activation.Semantic proximity Read ↗

Investigation of adult-onset multiple acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.Semantic proximity Read ↗

Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).Semantic proximity Read ↗

ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2.Semantic proximity Read ↗

Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.Semantic proximity Read ↗

The role of apoptosis in neuromuscular diseases and prospects for anti-apoptosis therapy.Semantic proximity Read ↗

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