Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity

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Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity

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作者：Jonathan A. Stefely¹ ; ² ; ¹⁸ ; Floriana Licitra³ ; ⁴ ; ⁵ ; ¹⁸ ; Leila Laredj³ ; ⁴ ; ⁵ ; Andrew G. Reidenbach¹ ; ² ; Zachary A. Kemmerer¹ ; ² ; Anais Grangeray⁴ ; ⁶ ; Tiphaine Jaeg-Ehret³ ; ⁴ ; ⁵ ; Catherine E. Minogue⁷ ; Arne Ulbrich⁷ ; Paul D. Hutchins⁷ ; Emily M. Wilkerson⁷ ; Zheng Ruan⁸ ; ⁹ ; Deniz Aydin¹⁰ ; ¹¹ ; Alexander S. Hebert¹² ; Xiao Guo¹ ; ⁷ ; Elyse C. Freiberger² ; Laurence Reutenauer³ ; ⁴ ; ⁵ ; Adam Jochem¹ ; Maya Chergova³ ; ⁴ ; ⁵ ; Isabel E. Johnson¹ ; ² ; Danielle C. Lohman¹ ; ² ; Matthew J.P. Rush⁷ ; Nicholas W. Kwiecien⁷ ; Pankaj K. Singh³ ; ⁴ ; ⁵ ; Anna I. Schlagowski¹³ ; Brendan J. Floyd¹ ; ² ; Ulrika Forsman¹⁴ ; Pavel J. Sindelar¹⁴ ; ¹⁵ ; Michael S. Westphall¹² ; Fabien Pierrel¹⁴ ; ¹⁶ ; Joffrey Zoll¹³ ; Matteo Dal Peraro¹⁰ ; ¹¹ ; Natarajan Kannan⁸ ; ⁹ ; Craig A. Bingman² ; Joshua J. Coon⁷ ; ¹² ; ¹⁷ ; Philippe Isope⁴ ; ⁶ ; Hé ; lè ; ne Puccio³ ; ⁴ ; ⁵ ; ^{hpuccio@igbmc.fr" class="auth_mail" title="E-mail the corresponding author} ; David J. Pagliarini¹ ; ² ; ^{dpagliarini@morgridge.org" class="auth_mail" title="E-mail the corresponding author}
刊名：Molecular Cell
出版年：2016
出版时间：18 August 2016
年：2016
卷：63
期：4
页码：608-620
全文大小：5052 K

文摘

class="label">•: Coq8a^–/– mice recapitulate the most frequent form of human genetic CoQ deficiency
class="label">•: COQ8A maintains a mammalian coenzyme Q (ubiquinone) biosynthesis complex
class="label">•: COQ8 stabilizes complex Q through unorthodox kinase-like mechanisms
class="label">•: COQ8 binds lipid CoQ intermediates with a conserved structural feature (KxGQ domain)

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