排序方式: 共有3条查询结果,搜索用时 15 毫秒
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Meriem El Ghachi Nicole Howe Rodolphe Auger Alexandre Lambion Annick Guiseppi François Delbrassine Guillaume Manat Sophie Roure Sabine Peslier Eric Sauvage Lutz Vogeley Juan-Carlos Rengifo-Gonzalez Paulette Charlier Dominique Mengin-Lecreulx Maryline Foglino Thierry Touzé Martin Caffrey Frédéric Kerff 《Cellular and molecular life sciences : CMLS》2017,74(12):2319-2332
Type 2 phosphatidic acid phosphatases (PAP2s) can be either soluble or integral membrane enzymes. In bacteria, integral membrane PAP2s play major roles in the metabolisms of glycerophospholipids, undecaprenyl-phosphate (C55-P) lipid carrier and lipopolysaccharides. By in vivo functional experiments and biochemical characterization we show that the membrane PAP2 coded by the Bacillus subtilis yodM gene is the principal phosphatidylglycerol phosphate (PGP) phosphatase of B. subtilis. We also confirm that this enzyme, renamed bsPgpB, has a weaker activity on C55-PP. Moreover, we solved the crystal structure of bsPgpB at 2.25 Å resolution, with tungstate (a phosphate analog) in the active site. The structure reveals two lipid chains in the active site vicinity, allowing for PGP substrate modeling and molecular dynamic simulation. Site-directed mutagenesis confirmed the residues important for substrate specificity, providing a basis for predicting the lipids preferentially dephosphorylated by membrane PAP2s. 相似文献
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Moreira MC Klur S Watanabe M Németh AH Le Ber I Moniz JC Tranchant C Aubourg P Tazir M Schöls L Pandolfo M Schulz JB Pouget J Calvas P Shizuka-Ikeda M Shoji M Tanaka M Izatt L Shaw CE M'Zahem A Dunne E Bomont P Benhassine T Bouslam N Stevanin G Brice A Guimarães J Mendonça P Barbot C Coutinho P Sequeiros J Dürr A Warter JM Koenig M 《Nature genetics》2004,36(3):225-227
Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination. 相似文献
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Stevanin G Santorelli FM Azzedine H Coutinho P Chomilier J Denora PS Martin E Ouvrard-Hernandez AM Tessa A Bouslam N Lossos A Charles P Loureiro JL Elleuch N Confavreux C Cruz VT Ruberg M Leguern E Grid D Tazir M Fontaine B Filla A Bertini E Durr A Brice A 《Nature genetics》2007,39(3):366-372
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed 12 ARHSP-TCC families, refined the SPG11 candidate interval and identified ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland. The mutations were either nonsense or insertions and deletions leading to a frameshift, suggesting a loss-of-function mechanism. The identification of the function of the gene will provide insight into the mechanisms leading to the degeneration of the corticospinal tract and other brain structures in this frequent form of ARHSP. 相似文献
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