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

doi:10.1016/j.molcel.2016.06.030

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Article

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

Molecular cell - 18 Aug 2016

Stefely Jonathan A, Licitra Floriana, Laredj Leila, Reidenbach Andrew G, Kemmerer Zachary A, Grangeray Anais, Jaeg-Ehret Tiphaine, Minogue Catherine E, Ulbrich Arne, Hutchins Paul D, Wilkerson Emily M, Ruan Zheng, Aydin Deniz, Hebert Alexander S, Guo Xiao, Freiberger Elyse C, Reutenauer Laurence, Jochem Adam, Chergova Maya, Johnson Isabel E, Lohman Danielle C, Rush Matthew J P, Kwiecien Nicholas W, Singh Pankaj K, Schlagowski Anna I, Floyd Brendan J, Forsman Ulrika, Sindelar Pavel J, Westphall Michael S, Pierrel Fabien, Zoll Joffrey, Dal Peraro Matteo, Kannan Natarajan, Bingman Craig A, Coon Joshua J, Isope Philippe, Puccio Hélène, Pagliarini David J

Abstract excerpt

The UbiB protein kinase-like (PKL) family is widespread, comprising one-quarter of microbial PKLs and five human homologs, yet its biochemical activities remain obscure. COQ8A (ADCK3) is a mammalian UbiB protein associated with ubiquinone (CoQ) biosynthesis and an ataxia (ARCA2) through unclear means. We show that mice lacking COQ8A develop a slowly progressive cerebellar ataxia linked to Purkinje cell...

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PMID: 27499294
DOI: 10.1016/j.molcel.2016.06.030
PMCID: PMC5012427

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