Publications

Found 209 results
Filters: Keyword is Molecular Sequence Data  [Clear All Filters]
2006
Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RMassimilia, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V & Zeviani M (2006) MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 38, 570-5
Longley MJ, Clark S, Man CYu Wai, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC & Chinnery PF (2006) Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 78, 1026-34
2005
Minczuk M, Lilpop J, Boros J & Stepien PP (2005) The 5' region of the human hSUV3 gene encoding mitochondrial DNA and RNA helicase: promoter characterization and alternative pre-mRNA splicing. Biochim Biophys Acta 1729, 81-7
Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I & Zeviani M (2005) Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet 14, 3079-88
Meulener M, Whitworth AJ, Armstrong-Gold CE, Rizzu P, Heutink P, Wes PD, Pallanck LJ & Bonini NM (2005) Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease. Curr Biol 15, 1572-7
Monné M, Chan KWai, Slotboom D-J & Kunji ERS (2005) Functional expression of eukaryotic membrane proteins in Lactococcus lactis. Protein Sci 14, 3048-56
Montanini L, Regna-Gladin C, Eoli M, Albarosa R, Carrara F, Zeviani M, Bruzzone MGrazia, Broggi G, Boiardi A & Finocchiaro G (2005) Instability of mitochondrial DNA and MRI and clinical correlations in malignant gliomas. J Neurooncol 74, 87-9
Bustos DM & Velours J (2005) The modification of the conserved GXXXG motif of the membrane-spanning segment of subunit g destabilizes the supramolecular species of yeast ATP synthase. J Biol Chem 280, 29004-10
Chan KWai, Slotboom D-J, Cox S, T Embley M, Fabre O, van der Giezen M, Harding M, Horner DS, Kunji ERS, León-Avila G & Tovar J (2005) A novel ADP/ATP transporter in the mitosome of the microaerophilic human parasite Entamoeba histolytica. Curr Biol 15, 737-42
Maguire ML, Guler-Gane G, Nietlispach D, Raine ARC, Zorn AM, Standart N & R Broadhurst W (2005) Solution structure and backbone dynamics of the KH-QUA2 region of the Xenopus STAR/GSG quaking protein. J Mol Biol 348, 265-79
Carbajo RJ, Kellas FA, Runswick MJ, Montgomery MG, Walker JE & Neuhaus D (2005) Structure of the F1-binding domain of the stator of bovine F1Fo-ATPase and how it binds an alpha-subunit. J Mol Biol 351, 824-38
Murata T, Yamato I, Kakinuma Y, Leslie AGW & Walker JE (2005) Structure of the rotor of the V-Type Na+-ATPase from Enterococcus hirae. Science 308, 654-9
Meier T, Polzer P, Diederichs K, Welte W & Dimroth P (2005) Structure of the rotor ring of F-Type Na+-ATPase from Ilyobacter tartaricus. Science 308, 659-62
Yasukawa T, Kirino Y, Ishii N, Holt IJ, Jacobs HT, Makifuchi T, Fukuhara N, Ohta S, Suzuki T & Watanabe K (2005) Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases. FEBS Lett 579, 2948-52
2004
R Curtis K & Brand MD (2004) Analysing microarray data using modular regulation analysis. Bioinformatics 20, 1272-84
Ross MF, Filipovska A, Smith RAJ, Gait MJ & Murphy MP (2004) Cell-penetrating peptides do not cross mitochondrial membranes even when conjugated to a lipophilic cation: evidence against direct passage through phospholipid bilayers. Biochem J 383, 457-68
Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva M-T, Vollmer B, Rinaldo P, Hahn SHoun, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P & Zeviani M (2004) Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 74, 239-52
Beer SM, Taylor ER, Brown SE, Dahm CC, Costa NJ, Runswick MJ & Murphy MP (2004) Glutaredoxin 2 catalyzes the reversible oxidation and glutathionylation of mitochondrial membrane thiol proteins: implications for mitochondrial redox regulation and antioxidant DEFENSE. J Biol Chem 279, 47939-51
Fiermonte G, De Leonardis F, Todisco S, Palmieri L, Lasorsa FMassimo & Palmieri F (2004) Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution. J Biol Chem 279, 30722-30
Kim WK, Bolser DM & Park JH (2004) Large-scale co-evolution analysis of protein structural interlogues using the global protein structural interactome map (PSIMAP). Bioinformatics 20, 1138-50
Chen R, Fearnley IM, Palmer DN & Walker JE (2004) Lysine 43 is trimethylated in subunit C from bovine mitochondrial ATP synthase and in storage bodies associated with batten disease. J Biol Chem 279, 21883-7
Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon J-M, Roostalu U, Loogväli E-L, Kivisild T, Bandelt H-J, Richards M, Villems R, A Santachiara-Benerecetti S, Semino O & Torroni A (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75, 910-8
Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I & Viola AMaria (2004) Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. Hum Mol Genet 13, 923-34
Chen R, Fearnley IM, Peak-Chew SY & Walker JE (2004) The phosphorylation of subunits of complex I from bovine heart mitochondria. J Biol Chem 279, 26036-45
Kunji ERS (2004) The role and structure of mitochondrial carriers. FEBS Lett 564, 239-44

Pages