Article

Molecular Consequences of Pathogenic SDHA Variants: From Defective Flavinylation and Assembly to Lipid Remodeling

2026-01-21

Abstract excerpt

<title>Abstract</title> <p>Background Succinate dehydrogenase (SDH), also known as complex II, connects the tricarboxylic acid cycle with oxidative phosphorylation, and mutations in its subunits are linked to mitochondrial disease and cancer. However, the molecular consequences of SDHA pathogenic variants remain poorly understood. Here, we generated a panel of patient-derived SDHA variants in an SDHA knockout HE...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: dddf3c6c-84ea-537b-ab53-a1269fdb6feb
DOI: 10.21203/rs.3.rs-8568560/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Molecular Consequences of Pathogenic SDHA Variants: From Defective Flavinylation and Assembly to Lipid RemodelingDOI 10.21203/rs.3.rs-8568560/v1Read

Metabolic Effects of Succinate Dehydrogenase Loss in CancerSemantic proximity Read

Succinate Dehydrogenase Complex: An Updated ReviewSemantic proximity Read

Succinate dehydrogenase complex subunit C: Role in cellular physiology and disease.Semantic proximity Read

Loss of SDHB reprograms energy metabolisms and inhibits high fat diet induced metabolic syndromesSemantic proximity Read

Genetic, epigenetic and biochemical regulation of succinate dehydrogenase functionSemantic proximity Read

Defective Function of α-Ketoglutarate Dehydrogenase Exacerbates Mitochondrial ATP Deficits during Complex I DeficiencySemantic proximity Read

Biochemical, Molecular, and Clinical Characterization of Succinate Dehydrogenase Subunit A Variants of Unknown Significance.Semantic proximity Read

Dual loss of succinate dehydrogenase (SDH) and complex I activity is necessary to recapitulate the metabolic phenotype of SDH mutant tumors.Semantic proximity Read

Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.Semantic proximity Read

Succinate dehydrogenase deficiency in human.Semantic proximity Read

Complex II subunit SDHD is critical for cell growth and metabolism, which can be partially restored with a synthetic ubiquinone analog.Semantic proximity Read

Succinic semialdehyde dehydrogenase deficiency: exploring the relationship between ALDH5A1 variants and molecular effect on SSADH.Semantic proximity Read