2025年3月30日 · SDHD (Succinate Dehydrogenase Complex Subunit D) is a Protein Coding gene. Diseases associated with SDHD include Pheochromocytoma/Paraganglioma Syndrome …

Intriguingly a silent SNP (c.204C > T) in SDHD was significantly more common in HNPGL cases (6/34) than in controls (1/100, P = 0.0011). Combining our results with those from two other …

Isolated mitochondrial complex II deficiency is a rare cause of mitochondrial respiratory chain disease. To date biallelic variants in three genes encoding mitochondrial complex II molecular …

2021年5月20日 · Here we describe four Palestinian siblings presenting in childhood with clinical features indicative of mitochondrial disease and a likely pathogenic homozygous SDHD …

In addition to tumour type susceptibility differences for individual genes, we confirmed that the SDHD: p.Pro81Leu mutation has a distinct phenotype and identified increased age-related …

2009年4月28日 · The SNP (G691S) changes the nonpolar amino acid glycine into the polar amino acid serine. This alteration can substantially alter protein processing, folding, subcellular …

Our data suggest that mutations in PTEN, SDHB and SDHD reduce catalytic activity of SDH and result in succinate accumulation and identify a common biochemical alteration between these …

The SDHD gene was examined for single nucleotide polymorphisms (SNP) as well as for expression changes in the Longissimus dorsi muscle of commercial pigs with different …

2005年11月16日 · The SDHA, SDHB, SDHC and SDHD genes encode the subunits of succinate dehydrogenase (succinate: ubiquinone oxidoreductase), a component of both the Krebs cycle …

In addition to tumour type susceptibility differences for individual genes, we confirmed that the SDHD: p.Pro81Leu mutation has a distinct phenotype and identified increased age-related …