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Valeria Tiranti

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Valeria Tiranti; Massimo Zeviani
Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
Dario Brunetti; Anna Cozzi; Giulia d'Amati; Ilaria D'Amato; Sabrina Dusi; Carla Giordano; Susan Hayflick; Sonia Levi; Fabio Moda; Michela Morbin; Andrea Uggetti; Valeria Tiranti
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
Alessia Indrieri; Kerstin Kutsche; Isabelle Maystadt; Manuela Morleo; Roberta Tammaro; Valeria Tiranti; Vanessa Alexandra van Rahden; Massimo Zeviani; Alex Zvulunov; Ivan Conte; Ilaria D'Amato; Stephanie Demuth; Daniela Iaconis; Brunella Franco
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

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All Publications

2013: Valeria Tiranti; Massimo Zeviani
Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
Cold Spring Harbor perspectives in biology 2013;5(1):a011437.
2012: Dario Brunetti; Anna Cozzi; Giulia d'Amati; Ilaria D'Amato; Sabrina Dusi; Carla Giordano; Susan Hayflick; Sonia Levi; Fabio Moda; Michela Morbin; Andrea Uggetti; Valeria Tiranti
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
Human molecular genetics 2012;21(24):5294-305.
2012: Alessia Indrieri; Kerstin Kutsche; Isabelle Maystadt; Manuela Morleo; Roberta Tammaro; Valeria Tiranti; Vanessa Alexandra van Rahden; Massimo Zeviani; Alex Zvulunov; Ivan Conte; Ilaria D'Amato; Stephanie Demuth; Daniela Iaconis; Brunella Franco
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
American journal of human genetics 2012;91(5):942-9.
2012: Celeste Panteghini; Chiara Reale; Birgit Siegel; Alessandro Simonati; Enrico Bertini; Dario Brunetti; Luisa Chiapparini; Sabrina Dusi; Barbara Garavaglia; Nardo Nardocci; Paola Venco; Federica Zibordi; Giovanna Zorzi; Brigitte Siegel; Valeria Tiranti
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
Seminars in pediatric neurology 2012;19(2):75-81.
2012: Carla Giordano; Vincenzo Leuzzi; Maurizia Orlandi; Paola Papoff; Alberto Spalice; Valeria Tiranti; Carlo Viscomi; Alberto Burlina; Giulia d'Amati; Ivano Di Meo; Massimo Zeviani
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.
Journal of inherited metabolic disease 2012;35(3):451-8.
2012: Ornella Zollo; Valeria Tiranti; Neal Sondheimer
Transcriptional requirements of the distal heavy-strand promoter of mtDNA.
Proceedings of the National Academy of Sciences of the United States of America 2012;109(17):6508-12.
2012: Valerio Leoni; Vamsi K Mootha; Nardo Nardocci; M Rimoldi; Amanda L Souza; Laura Strittmatter; Enrico Bertini; Claudio Caccia; Emilio Ciusani; Clary B Clish; Amy Deik; Sabrina Dusi; Barbara Garavaglia; Paola Venco; Federica Zibordi; Giovanna Zorzi; Valeria Tiranti
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.
Molecular genetics and metabolism 2012;105(3):463-71.
2011: Monika B Hartig; Katharina Heim; Maja Hempel; Arcangela Iuso; Sergiusz Jozwiak; Elzbieta Jurkiewicz; Thomas Klopstock; Tomasz Kmiec; Malgorzata Krajewska-Walasek; Hans A Kretzschmar; Thomas Meitinger; Wolfgang Mueller-Felber; Konrad Oexle; Sabrina Dusi; Matthias Elstner; Thomas Gasser; Tobias Haack; Sigrun Roeber; Gerd Schmitz; Tim M Strom; Victoria Tarabin; Valeria Tiranti; Claudia Trenkwalder; Juliane Winkelmann; Holger Prokisch
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
American journal of human genetics 2011;89(4):543-50.
2011: Hibiki Kawamata; Jordi Magrané; Christos Chinopoulos; Valeria Tiranti; Giovanni Manfredi
adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.
Human molecular genetics 2011;20(15):2964-74.
2011: Ivano Di Meo; Gigliola Fagiolari; Alessandro Prelle; Carlo Viscomi; Massimo Zeviani; Valeria Tiranti
Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy.
Antioxidants & redox signaling 2011;15(2):353-62.
2010: Carlo Viscomi; Alberto B Burlina; Imad Dweikat; Mario Savoiardo; Costanza Lamperti; Tatjana Hildebrandt; Valeria Tiranti; Massimo Zeviani
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.
Nature medicine 2010;16(8):869-71.
2009: Lucia Valente; Daniela Piga; Eleonora Lamantea; Franco Carrara; Graziella Uziel; Paola Cudia; Anna Zani; Laura Farina; Lucia Morandi; Marina Mora; Antonella Spinazzola; Massimo Zeviani; Valeria Tiranti
Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
Biochimica et biophysica acta 2009;1787(5):491-501.
2009: Valeria Tiranti; Carlo Viscomi; Tatjana Hildebrandt; Ivano Di Meo; Rossana Mineri; Cecilia Tiveron; Michael D Levitt; Alessandro Prelle; Gigliola Fagiolari; Marco Rimoldi; Massimo Zeviani
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
Nature medicine 2009;15(2):200-5.
2009: Erika Fernandez-Vizarra; Valeria Tiranti; Lucia Valente; Angela Berardinelli; Massimo Zeviani
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
BMJ case reports 2009;2009():.
2009: Rossana Mineri; Norman Pavelka; Erika Fernandez-Vizarra; Paola Ricciardi-Castagnoli; Massimo Zeviani; Valeria Tiranti
How do human cells react to the absence of mitochondrial DNA?
PloS one 2009;4(5):e5713.
2009: Erika Fernández-Vizarra; Valeria Tiranti; Massimo Zeviani
Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects.
Biochimica et biophysica acta 2009;1793(1):200-11.
2008: Rob M Verdijk; Ronald de Krijger; Kees Schoonderwoerd; Valeria Tiranti; Hubert Smeets; Lutgarde C P Govaerts; René de Coo
Phenotypic consequences of a novel SCO2 gene mutation.
American journal of medical genetics. Part A 2008;146A(21):2822-7.
2008: Daniele Ghezzi; Ann Saada (Reisch); Pio D'Adamo; Erika Fernandez-Vizarra; Paolo Gasparini; Valeria Tiranti; Orly Elpeleg; Massimo Zeviani
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.
American journal of human genetics 2008;83(3):415-23.
2008: Rossana Mineri; M Rimoldi; A B Burlina; S Koskull; C Perletti; B Heese; U von Döbeln; Paolo Mereghetti; Ivano Di Meo; Federica Invernizzi; Massimo Zeviani; Graziella Uziel; Valeria Tiranti
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
Journal of medical genetics 2008;45(7):473-8.
2008: Cetin Okuyaz; Fatih Süheyl Ezgü; Gürsel Biberoglu; Massimo Zeviani; Valeria Tiranti; Esat Yilgör
Severe infantile hypotonia with ethylmalonic aciduria: case report.
Journal of child neurology 2008;23(6):703-5.
2008: Andreas Wiedmer; Pu Wang; Jing Zhou; Andrew J Rennekamp; Valeria Tiranti; Massimo Zeviani; Paul M Lieberman
Epstein-Barr virus immediate-early protein Zta co-opts mitochondrial single-stranded DNA binding protein to promote viral and inhibit mitochondrial DNA replication.
Journal of virology 2008;82(9):4647-55.
2007: Erika Fernandez-Vizarra; Angela Berardinelli; Lucia Valente; Valeria Tiranti; Massimo Zeviani
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Journal of medical genetics 2007;44(3):173-80.
2007: Simona Alberio; Rossana Mineri; Valeria Tiranti; Massimo Zeviani
Depletion of mtDNA: syndromes and genes.
Mitochondrion 2007;7(1-2):6-12.
2007: Lucia Valente; Valeria Tiranti; René Massimiliano Marsano; Edoardo Malfatti; Erika Fernandez-Vizarra; Claudia Donnini; Paolo Mereghetti; Luca De Gioia; Alberto Burlina; Claudio Castellan; Giacomo P Comi; Salvatore Savasta; Iliana Ferrero; Massimo Zeviani
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
American journal of human genetics 2007;80(1):44-58.
2006: Maja Di Rocco; Ubaldo Caruso; Egill Briem; Andrea Rossi; A E M Allegri; Davide Buzzi; Valeria Tiranti
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.
Molecular genetics and metabolism 2006;89(4):395-7.
2006: Rudy van Eijsden; Mike Gerards; Lars M T Eijssen; A T M Hendrickx; Roselie J Jongbloed; J H J Wokke; Rogier Q Hintzen; M Estela Rubio-Gozalbo; I F M de Coo; Egill Briem; Valeria Tiranti; H J M Smeets
Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(10):620-7.
2006: antonella spinazzola; Carlo Viscomi; Erika Fernandez-Vizarra; Franco Carrara; Pio D'Adamo; Sarah Calvo; René Massimiliano Marsano; Claudia Donnini; Hans Weiher; Pietro Strisciuglio; Rossella Parini; Emmanuelle Sarzi; Alicia Chan; Salvatore DiMauro; Agnès Rötig; Paolo Gasparini; Iliana Ferrero; Vamsi K Mootha; Valeria Tiranti; Massimo Zeviani
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
Nature genetics 2006;38(5):570-5.
2006: Valeria Tiranti; Egill Briem; Eleonora Lamantea; Rossana Mineri; Elena Papaleo; Luca De Gioia; Fabio Forlani; P Rinaldo; P Dickson; B Abu-Libdeh; L Cindro-Heberle; M Owaidha; R M Jack; E Christensen; A Burlina; Massimo Zeviani
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Journal of medical genetics 2006;43(4):340-6.
2005: Joslyn K Brunelle; Eric L Bell; Nancy M Quesada; Kristel Vercauteren; Valeria Tiranti; Massimo Zeviani; Richard C Scarpulla; Navdeep S Chandel
Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation.
Cell metabolism 2005;1(6):409-14.
2005: Massimiliano Bugiani; Valeria Tiranti; Laura Farina; Graziella Uziel; Massimo Zeviani
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
Journal of medical genetics 2005;42(5):e28.
2004: Franco Carrara; P F Chinnery; P Yu Wai Man; M Zeviani; Valeria Tiranti
Pitfalls in restriction fragment length polymorphism analysis of Leber's hereditary optic neuropathy patients.
Mitochondrion 2004;4(1):37-9.
2004: Flavia Fontanesi; Luigi Palmieri; Pasquale Scarcia; Tiziana Lodi; Claudia Donnini; Anna Limongelli; Valeria Tiranti; Massimo Zeviani; Iliana Ferrero; Anna Maria Viola
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.
Human molecular genetics 2004;13(9):923-34.
2004: Valeria Tiranti; Pio D'Adamo; Egill Briem; Gianfrancesco Ferrari; Rossana Mineri; Eleonora Lamantea; Hanna Mandel; Paolo Balestri; Maria-Teresa Garcia-Silva; Brigitte Vollmer; Piero Rinaldo; Si Houn Hahn; James Leonard; Shamima Rahman; Carlo Dionisi Vici; Barbara Garavaglia; Paolo Gasparini; Massimo Zeviani
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
American journal of human genetics 2004;74(2):239-52.
2003: Alessandro Agostino; L Valletta; P F Chinnery; G Ferrari; Franco Carrara; R W Taylor; A M Schaefer; D M Turnbull; Valeria Tiranti; Massimo Zeviani
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Neurology 2003;60(8):1354-6.
2003: Alessandro Agostino; Federica Invernizzi; Cecilia Tiveron; Gigliola Fagiolari; Alessandro Prelle; Eleonora Lamantea; Alessio Giavazzi; Giorgio Battaglia; Laura Tatangelo; Valeria Tiranti; Massimo Zeviani
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.
Human molecular genetics 2003;12(4):399-413.
2003: Joaquín Arenas; Egill Briem; Henrik Dahl; Wendy Hutchison; Sharon Lewis; Miguel A Martin; Hans Spelbrink; Valeria Tiranti; Howy Jacobs; Massimo Zeviani
The V368i mutation in Twinkle does not segregate with AdPEO.
Annals of neurology 2003;53(2):278.
2002: Anna Limongelli; Valeria Tiranti
Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA.
Mitochondrion 2002;2(1-2):39-46.
2002: Eleonora Lamantea; Valeria Tiranti; Andreina Bordoni; Antonio Toscano; Francesco Bono; Serenella Servidei; Alex Papadimitriou; Hans Spelbrink; Laura Silvestri; Giorgio Casari; Giacomo P Comi; Massimo Zeviani
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
Annals of neurology 2002;52(2):211-9.
2002: Eleonora Lamantea; Franco Carrara; Caterina Mariotti; Lucia Morandi; Valeria Tiranti; Massimo Zeviani
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.
Neuromuscular disorders : NMD 2002;12(1):49-52.
2001: Laura Napoli; Andreina Bordoni; M Zeviani; Georgios M Hadjigeorgiou; Monica Sciacco; Valeria Tiranti; AE Terentiou; Maurizio Moggio; Alexandros Papadimitriou; Guglielmo Scarlato; Giacomo P Comi
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.
Neurology 2001;57(12):2295-8.
2001: Johannes N Spelbrink; FY Li; Valeria Tiranti; Kaisu Nikali; Qiu-Ping Yuan; M Tariq; Sjoerd Wanrooij; Nuria Garrido; G Comi; L Morandi; L Santoro; A Toscano; G M Fabrizi; Hannu Somer; Rebecca Croxen; David Beeson; Joanna Poulton; Anu Suomalainen; Howard T Jacobs; Massimo Zeviani; Catharina Larsson
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Nature genetics 2001;28(3):223-31.
2001: Tim Hutchin; N C Navarro-Coy; Guy Van Camp; Valeria Tiranti; Massimo Zeviani; M Schuelke; M Jaksch; VE Newton; Robert F Mueller
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.
European journal of human genetics : EJHG 2001;9(5):385-7.
2001: P Corona; Carlo Antozzi; Franco Carrara; L D'Incerti; Eleonora Lamantea; Valeria Tiranti; Massimo Zeviani
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
Annals of neurology 2001;49(1):106-10.
2000: Valeria Tiranti; P Corona; M Greco; J W Taanman; Franco Carrara; Eleonora Lamantea; Leo G J Nijtmans; Graziella Uziel; Massimo Zeviani
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.
Human molecular genetics 2000;9(18):2733-42.
2000: Jyrki A Kaukonen; J K Juselius; Valeria Tiranti; Aija Kyttälä; M Zeviani; G P Comi; Sirkka Keränen; Leena Peltonen; Anu Suomalainen
Role of adenine nucleotide translocator 1 in mtDNA maintenance.
Science (New York, N.Y.) 2000;289(5480):782-5.
2000: G V Börner; Massimo Zeviani; Valeria Tiranti; Franco Carrara; S Hoffmann; Klaus-Dieter Gerbitz; H Lochmüller; D Pongratz; Thomas Klopstock; Atle Melberg; Elisabeth Holme; S Pääbo
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.
Human molecular genetics 2000;9(4):467-75.
1999: Massimo Zeviani; P Corona; Leo G J Nijtmans; Valeria Tiranti
Nuclear gene defects in mitochondrial disorders.
Italian journal of neurological sciences 1999;20(6):401-8.
1999: Valeria Tiranti; Eleonora Lamantea; Graziella Uziel; M Zeviani; P Gasparini; R Marzella; M Rocchi; M Fried
Leigh syndrome transmitted by uniparental disomy of chromosome 9.
Journal of medical genetics 1999;36(12):927-8.
1999: Valeria Tiranti; C Galimberti; Leo G J Nijtmans; S Bovolenta; M P Perini; Massimo Zeviani
Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.
Human molecular genetics 1999;8(13):2533-40.
1999: Marina Toompuu; Valeria Tiranti; M Zeviani; Howard T Jacobs
Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids.
Human molecular genetics 1999;8(12):2275-83.
1999: Valeria Tiranti; Michaela Jaksch; Sabine Hofmann-Thiel; C Galimberti; K Hoertnagel; L Lulli; Peter Freisinger; Laurence A Bindoff; Klaus-Dieter Gerbitz; G P Comi; Graziella Uziel; Massimo Zeviani; Thomas Meitinger
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
Annals of neurology 1999;46(2):161-6.
1999: Valeria Tiranti; Franco Carrara; Paolo Confalonieri; Marina Mora; R M Maffei; Eleonora Lamantea; Massimo Zeviani
A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus.
Neuromuscular disorders : NMD 1999;9(2):66-71.
1999: Anja T Rovio; Valeria Tiranti; AL Bednarz; Anu Suomalainen; Johannes N Spelbrink; N Lecrenier; Atle Melberg; Massimo Zeviani; Joanna Poulton; Françoise Foury; Howard T Jacobs
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
European journal of human genetics : EJHG 1999;7(2):140-6.
1998: Vittoria Petruzzella; Valeria Tiranti; P Fernandez; P Ianna; Rosalba Carrozzo; Massimo Zeviani
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
Genomics 1998;54(3):494-504.
1998: Valeria Tiranti; K Hoertnagel; Rosalba Carrozzo; C Galimberti; M Munaro; M Granatiero; L Zelante; P Gasparini; R Marzella; M Rocchi; M P Bayona-Bafaluy; J A Enriquez; Graziella Uziel; E Bertini; Carlo Dionisi Vici; B Franco; Thomas Meitinger; Massimo Zeviani
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
American journal of human genetics 1998;63(6):1609-21.
1998: Massimo Zeviani; Valeria Tiranti; C Piantadosi
Mitochondrial disorders.
Medicine 1998;77(1):59-72.
1998: Valeria Tiranti; L D'Agruma; Davide Pareyson; Marina Mora; Franco Carrara; L Zelante; P Gasparini; Massimo Zeviani
A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
Annals of neurology 1998;43(1):98-101.
1997: Valeria Tiranti; Anna Savoia; F Forti; Maria D'Apolito; Marta Centra; M Rocchi; Massimo Zeviani
Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database.
Human molecular genetics 1997;6(4):615-25.
1997: M Munaro; Valeria Tiranti; D Sandonà; Eleonora Lamantea; Graziella Uziel; R Bisson; Massimo Zeviani
A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.
Human molecular genetics 1997;6(2):221-8.
1995: Valeria Tiranti; M Munaro; Dorianna Sandonà; Eleonora Lamantea; M Rimoldi; S DiDonato; R Bisson; Massimo Zeviani
Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants.
Human molecular genetics 1995;4(11):2017-23.
1995: C Mariotti; Graziella Uziel; Franco Carrara; Marina Mora; A Prelle; Valeria Tiranti; S DiDonato; Massimo Zeviani
Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.
Journal of neurology 1995;242(9):547-56.
1995: G M Fabrizi; Valeria Tiranti; C Mariotti; G C Guazzi; Alessandro Malandrini; S DiDonato; Massimo Zeviani
Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.
Journal of neurology 1995;242(8):490-6.
1995: Valeria Tiranti; Patrick Chariot; F Carella; Antonio Toscano; Paola Soliveri; Paolo Girlanda; Franco Carrara; G M Fratta; F M Reid; C Mariotti; M Zeviani
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.
Human molecular genetics 1995;4(8):1421-7.
1995: Valeria Tiranti; E Rossi; M Rocchi; S DiDonato; O Zuffardi; Massimo Zeviani
The gene (NFE2L1) for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32.
Genomics 1995;27(3):555-7.
1995: Massimo Zeviani; P Amati; G Comi; G Fratta; C Mariotti; Valeria Tiranti
Searching for genes affecting the structural integrity of the mitochondrial genome.
Biochimica et biophysica acta 1995;1271(1):153-8.
1995: Valeria Tiranti; E Rossi; A Ruiz-Carrillo; G Rossi; M Rocchi; S DiDonato; O Zuffardi; Massimo Zeviani
Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis.
Genomics 1995;25(2):559-64.
1994: C Mariotti; Valeria Tiranti; Franco Carrara; B Dallapiccola; S DiDonato; Massimo Zeviani
Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.
The Journal of clinical investigation 1994;93(3):1102-7.
1993: Valeria Tiranti; M Rocchi; S DiDonato; Massimo Zeviani
Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB).
Gene 1993;126(2):219-25.
1993: Massimo Zeviani; F Muntoni; N Savarese; G Serra; Valeria Tiranti; Franco Carrara; C Mariotti; S DiDonato
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.
European journal of human genetics : EJHG 1993;1(1):80-7.
1991: Valeria Tiranti; B Barat-Gueride; Janetta Bijl; S DiDonato; Massimo Zeviani
A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis.
Nucleic acids research 1991;19(15):4291.
1991: Massimo Zeviani; Cinzia Gellera; Carlo Antozzi; M Rimoldi; Lucia Morandi; F Villani; Valeria Tiranti; S DiDonato
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR).
Lancet 1991;338(8760):143-7.