Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency

@article{Shirao2010MolecularPO,
  title={Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency},
  author={Kenichiro Shirao and Satoshi Okada and Go Tajima and Miyuki Tsumura and Keiichi Hara and Shin’ichiro Yasunaga and Motoaki Ohtsubo and Ikue Hata and Nobuo Sakura and Yosuke Shigematsu and Yoshihiro Takihara and Masao Kobayashi},
  journal={Human Genetics},
  year={2010},
  volume={127},
  pages={619-628}
}
Short-chain acyl-CoA dehydrogenase (SCAD) is a mitochondrial enzyme involved in the β-oxidation of fatty acids. Genetic defect of SCAD was documented to cause clinical symptoms such as progressive psychomotor retardation, muscle hypotonia, and myopathy in early reports. However, clinical significance of SCAD deficiency (SCADD) has been getting ambiguous, for some variants in the ACADS gene, which encodes the SCAD protein, has turned out to be widely prevailed among general populations… CONTINUE READING

References

Publications referenced by this paper.
Showing 1-10 of 39 references

127:619–628 mutation in individuals of Ashkenazi Jewish origin

Hum Genet
Mol Genet Metab • 2010

Loss of PINK1 function promotes mitophagy through eVects on oxidative stress and mitochondrial Wssion

RK Dagda, SJ 3rdCherra, +3 authors CT Chu
J Biol Chem • 2009
View 2 Excerpts

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