نتایج جستجو برای: respiratory chain complex

تعداد نتایج: 1238547  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1989
J M Shoffner M T Lott A S Voljavec S A Soueidan D A Costigan D C Wallace

The muscle mitochondria of a patient with Kearns-Sayre/chronic external ophthalmoplegia plus syndrome were found to be completely deficient in respiratory complex I activity and partially deficient in complex IV and V activities. Treatment of the patient with coenzyme Q10 and succinate resulted in clinical improvement of respiratory function, consistent with the respiratory deficiencies. Restri...

2016
Masakazu Kohda Yoshimi Tokuzawa Yoshihito Kishita Hiromi Nyuzuki Yohsuke Moriyama Yosuke Mizuno Tomoko Hirata Yukiko Yatsuka Yzumi Yamashita-Sugahara Yutaka Nakachi Hidemasa Kato Akihiko Okuda Shunsuke Tamaru Nurun Nahar Borna Kengo Banshoya Toshiro Aigaki Yukiko Sato-Miyata Kohei Ohnuma Tsutomu Suzuki Asuteka Nagao Hazuki Maehata Fumihiko Matsuda Koichiro Higasa Masao Nagasaki Jun Yasuda Masayuki Yamamoto Takuya Fushimi Masaru Shimura Keiko Kaiho-Ichimoto Hiroko Harashima Taro Yamazaki Masato Mori Kei Murayama Akira Ohtake Yasushi Okazaki Gregory S. Barsh

Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutations in about 1,500 nuclear encoded mitochondrial proteins may cause mitochondrial dysfunction of energy production and mitochondrial disorders. Mo...

Journal: :Biochemical Society transactions 1985
J A Morgan-Hughes D J Hayes M Cooper J B Clark

Deficiencies of the mitochondrial respiratory chain or the phosphorylation system are becoming increasingly recognized causes of myopathy and multisystem disease in man. In biochemical terms, the ones most clearly defined have been associated with impaired activities of NADH : ubiquinone reductase (Morgan-Hughes el al., 1979, 1984; Land et al., 1981; Moreadith etal., 1984), ubiquino1:cytochrome...

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