Found 19 results
Filters: Keyword is Amino Acid Substitution  [Clear All Filters]
Narendra DP, Wang C, Youle RJ & Walker JE (2013) PINK1 rendered temperature sensitive by disease-associated and engineered mutations. Hum Mol Genet 22, 2572-89
Haack TB, Haberberger B, Frisch E-M, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T & Prokisch H (2012) Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet 49, 277-83
Indrieri A, van Rahden VAlexandra, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M & Franco B (2012) Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet 91, 942-9
Monné M, Miniero DValeria, Daddabbo L, Robinson AJ, Kunji ERS & Palmieri F (2012) Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site. J Biol Chem 287, 7925-34
Crichton PG, Albury MS, Affourtit C & Moore AL (2010) Mutagenesis of the Sauromatum guttatum alternative oxidase reveals features important for oxygen binding and catalysis. Biochim Biophys Acta 1797, 732-7
Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P & Zeviani M (2008) Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 82, 1281-9
Marongiu R, Ghezzi D, Ialongo T, Soleti F, Elia A, Cavone S, Albanese A, Altavista MConcetta, Barone P, Brusa L, Cortelli P, Petrozzi L, Scaglione C, Stanzione P, Tinazzi M, Zeviani M, Dallapiccola B, Bentivoglio ARita, Valente EMaria & Garavaglia B (2006) Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease. Mov Disord 21, 1232-5
Cappello ARita, Curcio R, Miniero DValeria, Stipani I, Robinson AJ, Kunji ERS & Palmieri F (2006) Functional and structural role of amino acid residues in the even-numbered transmembrane alpha-helices of the bovine mitochondrial oxoglutarate carrier. J Mol Biol 363, 51-62
Iwaki M, Yakovlev G, Hirst J, Osyczka A, P Dutton L, Marshall D & Rich PR (2005) Direct observation of redox-linked histidine protonation changes in the iron-sulfur protein of the cytochrome bc1 complex by ATR-FTIR spectroscopy. Biochemistry 44, 4230-7
Kujoth GC, Hiona A, Pugh TD, Someya S, Panzer K, Wohlgemuth SE, Hofer T, Seo AY, Sullivan R, Jobling WA, Morrow JD, Van Remmen H, Sedivy JM, Yamasoba T, Tanokura M, Weindruch R, Leeuwenburgh C & Prolla TA (2005) Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science 309, 481-4
Leggate EJ & Hirst J (2005) Roles of the disulfide bond and adjacent residues in determining the reduction potentials and stabilities of respiratory-type Rieske clusters. Biochemistry 44, 7048-58
Camba R, Jung Y-S, Hunsicker-Wang LM, Burgess BK, C Stout D, Hirst J & Armstrong FA (2003) Mechanisms of redox-coupled proton transfer in proteins: role of the proximal proline in reactions of the [3Fe-4S] cluster in Azotobacter vinelandii ferredoxin I. Biochemistry 42, 10589-99
Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V & Zeviani M (2003) Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 60, 1354-6
Corona P, Lamantea E, Greco M, Carrara F, Agostino A, Guidetti D, Dotti MT, Mariotti C & Zeviani M (2002) Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. Ann Neurol 51, 118-22
Jones PC (2001) Introduction of a carboxyl group in the first transmembrane helix of Escherichia coli F1Fo ATPase subunit c and cytoplasmic pH regulation. J Bacteriol 183, 1524-30
Hirst J, Wilcox SK, Ai J, Moënne-Loccoz P, Loehr TM & Goodin DB (2001) Replacement of the axial histidine ligand with imidazole in cytochrome c peroxidase. 2. Effects on heme coordination and function. Biochemistry 40, 1274-83
Hirst J, Wilcox SK, Williams PA, Blankenship J, McRee DE & Goodin DB (2001) Replacement of the axial histidine ligand with imidazole in cytochrome c peroxidase. 1. Effects on structure. Biochemistry 40, 1265-73
Tozawa K, Broadhurst RW, Raine AR, Fuller C, Alvarez A, Guillen G, Padron G & Perham RN (2001) Solution structure of the lipoyl domain of the chimeric dihydrolipoyl dehydrogenase P64K from Neisseria meningitidis. Eur J Biochem 268, 4908-17
Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, Keränen S, Peltonen L & Suomalainen A (2000) Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289, 782-5