1:

Alberio S, Mineri R, Tiranti V, Zeviani M.

 
Abstract
Depletion of mtDNA: syndromes and genes.
Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. Epub 2006 Dec 5. Review.
PMID: 17280874 [PubMed - indexed for MEDLINE]
2:

Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M.

 
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Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
Am J Hum Genet. 2007 Jan;80(1):44-58. Epub 2006 Nov 15. Erratum in: Am J Hum Genet. 2007 Mar;80(3):580.
PMID: 17160893 [PubMed - indexed for MEDLINE]
3:

van Eijsden RG, Gerards M, Eijssen LM, Hendrickx AT, Jongbloed RJ, Wokke JH, Hintzen RQ, Rubio-Gozalbo ME, De Coo IF, Briem E, Tiranti V, Smeets HJ.

 
Abstract
Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.
Genet Med. 2006 Oct;8(10):620-7.
PMID: 17079878 [PubMed - indexed for MEDLINE]
4:

Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M.

 
Abstract
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
J Med Genet. 2007 Mar;44(3):173-80. Epub 2006 Oct 20.
PMID: 17056637 [PubMed - indexed for MEDLINE]
5:

Di Rocco M, Caruso U, Briem E, Rossi A, Allegri AE, Buzzi D, Tiranti V.

 
Abstract
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.
Mol Genet Metab. 2006 Dec;89(4):395-7. Epub 2006 Jul 7.
PMID: 16828325 [PubMed - indexed for MEDLINE]
6:

Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, 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.

 
Abstract
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
Nat Genet. 2006 May;38(5):570-5. Epub 2006 Apr 2.
PMID: 16582910 [PubMed - indexed for MEDLINE]
7:

Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M.

 
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ETHE1 mutations are specific to ethylmalonic encephalopathy.
J Med Genet. 2006 Apr;43(4):340-6. Epub 2005 Sep 23.
PMID: 16183799 [PubMed - indexed for MEDLINE]
8:

Carrara F, Chinnery PF, Man PY, Zeviani M, Tiranti V.

 
No Abstract
Pitfalls in restriction fragment length polymorphism analysis of Leber's hereditary optic neuropathy patients.
Mitochondrion. 2004 Jun;4(1):37-9. No abstract available.
PMID: 16120372 [PubMed]
9:

Limongelli A, Tiranti V.

 
Abstract
Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA.
Mitochondrion. 2002 Nov;2(1-2):39-46.
PMID: 16120307 [PubMed]
10:

Brunelle JK, Bell EL, Quesada NM, Vercauteren K, Tiranti V, Zeviani M, Scarpulla RC, Chandel NS.

 
Abstract
Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation.
Cell Metab. 2005 Jun;1(6):409-14.
PMID: 16054090 [PubMed - indexed for MEDLINE]
11:

Bugiani M, Tiranti V, Farina L, Uziel G, Zeviani M.

 
Free Full Text
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
J Med Genet. 2005 May;42(5):e28.
PMID: 15863660 [PubMed - indexed for MEDLINE]
12:

Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I, Viola AM.

 
Free Full Text
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. 2004 May 1;13(9):923-34. Epub 2004 Mar 11.
PMID: 15016764 [PubMed - indexed for MEDLINE]
13:

Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M.

 
Free in PMC
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
Am J Hum Genet. 2004 Feb;74(2):239-52. Epub 2004 Jan 19.
PMID: 14732903 [PubMed - indexed for MEDLINE]
14:

Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M.

 
Abstract
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Neurology. 2003 Apr 22;60(8):1354-6.
PMID: 12707443 [PubMed - indexed for MEDLINE]
15:

Agostino A, Invernizzi F, Tiveron C, Fagiolari G, Prelle A, Lamantea E, Giavazzi A, Battaglia G, Tatangelo L, Tiranti V, Zeviani M.

 
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Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.
Hum Mol Genet. 2003 Feb 15;12(4):399-413.
PMID: 12566387 [PubMed - indexed for MEDLINE]
16:

Arenas J, Briem E, Dahl H, Hutchison W, Lewis S, Martin MA, Spelbrink H, Tiranti V, Jacobs H, Zeviani M.

 
No Abstract
The V368i mutation in Twinkle does not segregate with AdPEO.
Ann Neurol. 2003 Feb;53(2):278. No abstract available.
PMID: 12557300 [PubMed - indexed for MEDLINE]
17:

Testa D, Tiranti V, Girotti F.

 
Abstract
Unusual association of sporadic olivopontocerebellar atrophy and motor neuron disease.
Neurol Sci. 2002 Dec;23(5):243-5.
PMID: 12522682 [PubMed - indexed for MEDLINE]
18:

Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M.

 
Abstract
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
Ann Neurol. 2002 Aug;52(2):211-9.
PMID: 12210792 [PubMed - indexed for MEDLINE]
19:

Napoli L, Bordoni A, Zeviani M, Hadjigeorgiou GM, Sciacco M, Tiranti V, Terentiou A, Moggio M, Papadimitriou A, Scarlato G, Comi GP.

 
Abstract
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.
Neurology. 2001 Dec 26;57(12):2295-8.
PMID: 11756613 [PubMed - indexed for MEDLINE]
20:

Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V, Zeviani M.

 
Abstract
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.
Neuromuscul Disord. 2002 Jan;12(1):49-52.
PMID: 11731284 [PubMed - indexed for MEDLINE]
21:

Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M, Larsson C.

 
Abstract
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Nat Genet. 2001 Jul;28(3):223-31. Erratum in: Nat Genet 2001 Sep;29(1):100.
PMID: 11431692 [PubMed - indexed for MEDLINE]
22:

Hutchin TP, Navarro-Coy NC, Van Camp G, Tiranti V, Zeviani M, Schuelke M, Jaksch M, Newton V, Mueller RF.

 
Free Full Text
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.
Eur J Hum Genet. 2001 May;9(5):385-7.
PMID: 11378827 [PubMed - indexed for MEDLINE]
23:

Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C.

 
Abstract
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Hum Mutat. 2001 May;17(5):374-81.
PMID: 11317352 [PubMed - indexed for MEDLINE]
24:

Corona P, Antozzi C, Carrara F, D'Incerti L, Lamantea E, Tiranti V, Zeviani M.

 
Abstract
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
Ann Neurol. 2001 Jan;49(1):106-10.
PMID: 11198278 [PubMed - indexed for MEDLINE]
25:

Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G, Zeviani M.

 
Free Full Text
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.
Hum Mol Genet. 2000 Nov 1;9(18):2733-42.
PMID: 11063732 [PubMed - indexed for MEDLINE]
26:

Zeviani M, Corona P, Nijtmans L, Tiranti V.

 
Abstract
Nuclear gene defects in mitochondrial disorders.
Ital J Neurol Sci. 1999 Dec;20(6):401-8. Review.
PMID: 10937860 [PubMed - indexed for MEDLINE]
27:

Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, Keränen S, Peltonen L, Suomalainen A.

 
Free Full Text
Role of adenine nucleotide translocator 1 in mtDNA maintenance.
Science. 2000 Aug 4;289(5480):782-5.
PMID: 10926541 [PubMed - indexed for MEDLINE]
28:

Börner GV, Zeviani M, Tiranti V, Carrara F, Hoffmann S, Gerbitz KD, Lochmüller H, Pongratz D, Klopstock T, Melberg A, Holme E, Pääbo S.

 
Free Full Text
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.
Hum Mol Genet. 2000 Mar 1;9(4):467-75.
PMID: 10699170 [PubMed - indexed for MEDLINE]
29:

Tiranti V, Lamantea E, Uziel G, Zeviani M, Gasparini P, Marzella R, Rocchi M, Fried M.

 
Free Full Text
Leigh syndrome transmitted by uniparental disomy of chromosome 9.
J Med Genet. 1999 Dec;36(12):927-8. No abstract available.
PMID: 10636738 [PubMed - indexed for MEDLINE]
30:

Tiranti V, Galimberti C, Nijtmans L, Bovolenta S, Perini MP, Zeviani M.

 
Free Full Text
Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.
Hum Mol Genet. 1999 Dec;8(13):2533-40.
PMID: 10556302 [PubMed - indexed for MEDLINE]
31:

Toompuu M, Tiranti V, Zeviani M, Jacobs HT.

 
Free Full Text
Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids.
Hum Mol Genet. 1999 Nov;8(12):2275-83.
PMID: 10545608 [PubMed - indexed for MEDLINE]
32:

Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M, Meitinger T.

 
Abstract
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
Ann Neurol. 1999 Aug;46(2):161-6.
PMID: 10443880 [PubMed - indexed for MEDLINE]
33:

Tiranti V, Carrara F, Confalonieri P, Mora M, Maffei RM, Lamantea E, Zeviani M.

 
Abstract
A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus.
Neuromuscul Disord. 1999 Mar;9(2):66-71.
PMID: 10220860 [PubMed - indexed for MEDLINE]
34:

Rovio A, Tiranti V, Bednarz AL, Suomalainen A, Spelbrink JN, Lecrenier N, Melberg A, Zeviani M, Poulton J, Foury F, Jacobs HT.

 
Free Full Text
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
Eur J Hum Genet. 1999 Feb-Mar;7(2):140-6.
PMID: 10196696 [PubMed - indexed for MEDLINE]
35:

Verhoeven K, Ensink RJ, Tiranti V, Huygen PL, Johnson DF, Schatteman I, Van Laer L, Verstreken M, Van de Heyning P, Fischel-Ghodsian N, Zeviani M, Cremers CW, Willems PJ, Van Camp G.

 
Free Full Text
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.
Eur J Hum Genet. 1999 Jan;7(1):45-51.
PMID: 10094190 [PubMed - indexed for MEDLINE]
36:

Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M.

 
Abstract
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 Dec 15;54(3):494-504.
PMID: 9878253 [PubMed - indexed for MEDLINE]
37:

Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M.

 
Free in PMC
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
Am J Hum Genet. 1998 Dec;63(6):1609-21.
PMID: 9837813 [PubMed - indexed for MEDLINE]
38:

Zeviani M, Tiranti V, Piantadosi C.

 
Abstract
Mitochondrial disorders.
Medicine (Baltimore). 1998 Jan;77(1):59-72. Review.
PMID: 9465864 [PubMed - indexed for MEDLINE]
39:

Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, Gasparini P, Zeviani M.

 
Abstract
A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
Ann Neurol. 1998 Jan;43(1):98-101.
PMID: 9450773 [PubMed - indexed for MEDLINE]
40:

Prats E, Noël M, Létourneau J, Tiranti V, Vaqué J, Debón R, Zeviani M, Cornudella L, Ruiz-Carrillo A.

 
Abstract
Characterization and expression of the mouse endonuclease G gene.
DNA Cell Biol. 1997 Sep;16(9):1111-22.
PMID: 9324313 [PubMed - indexed for MEDLINE]
41:

Zeviani M, Fernandez-Silva P, Tiranti V.

 
Abstract
Disorders of mitochondria and related metabolism.
Curr Opin Neurol. 1997 Apr;10(2):160-7. Review.
PMID: 9146998 [PubMed - indexed for MEDLINE]
42:

Tiranti V, Savoia A, Forti F, D'Apolito MF, Centra M, Rocchi M, Zeviani M.

 
Free Full Text
Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database.
Hum Mol Genet. 1997 Apr;6(4):615-25.
PMID: 9097968 [PubMed - indexed for MEDLINE]
43:

Munaro M, Tiranti V, Sandonà D, Lamantea E, Uziel G, Bisson R, Zeviani M.

 
Free Full Text
A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.
Hum Mol Genet. 1997 Feb;6(2):221-8.
PMID: 9063742 [PubMed - indexed for MEDLINE]
44:

Tiranti V, Munaro M, Sandonà D, Lamantea E, Rimoldi M, DiDonato S, Bisson R, Zeviani M.

 
Abstract
Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants.
Hum Mol Genet. 1995 Nov;4(11):2017-23.
PMID: 8589677 [PubMed - indexed for MEDLINE]
45:

Mariotti C, Uziel G, Carrara F, Mora M, Prelle A, Tiranti V, DiDonato S, Zeviani M.

 
Abstract
Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.
J Neurol. 1995 Sep;242(9):547-56.
PMID: 8551315 [PubMed - indexed for MEDLINE]
46:

Fabrizi GM, Tiranti V, Mariotti C, Guazzi GC, Malandrini A, DiDonato S, Zeviani M.

 
Abstract
Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.
J Neurol. 1995 Aug;242(8):490-6.
PMID: 8530975 [PubMed - indexed for MEDLINE]
47:

Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C, et al.

 
Abstract
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.
Hum Mol Genet. 1995 Aug;4(8):1421-7.
PMID: 7581383 [PubMed - indexed for MEDLINE]
48:

Tiranti V, Rossi E, Rocchi M, DiDonato S, Zuffardi O, Zeviani M.

 
No Abstract
The gene (NFE2L1) for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32.
Genomics. 1995 Jun 10;27(3):555-7. No abstract available.
PMID: 7558044 [PubMed - indexed for MEDLINE]
49:

Zeviani M, Amati P, Comi G, Fratta G, Mariotti C, Tiranti V.

 
Abstract
Searching for genes affecting the structural integrity of the mitochondrial genome.
Biochim Biophys Acta. 1995 May 24;1271(1):153-8. Review.
PMID: 7599202 [PubMed - indexed for MEDLINE]
50:

Tiranti V, Rossi E, Ruiz-Carrillo A, Rossi G, Rocchi M, DiDonato S, Zuffardi O, Zeviani M.

 
Abstract
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 Jan 20;25(2):559-64.
PMID: 7789991 [PubMed - indexed for MEDLINE]
51:

Curth U, Urbanke C, Greipel J, Gerberding H, Tiranti V, Zeviani M.

 
Abstract
Single-stranded-DNA-binding proteins from human mitochondria and Escherichia coli have analogous physicochemical properties.
Eur J Biochem. 1994 Apr 1;221(1):435-43.
PMID: 8168532 [PubMed - indexed for MEDLINE]
52:

Mariotti C, Tiranti V, Carrara F, Dallapiccola B, DiDonato S, Zeviani M.

 
Free in PMC
Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.
J Clin Invest. 1994 Mar;93(3):1102-7.
PMID: 8132749 [PubMed - indexed for MEDLINE]
53:

Tiranti V, Rocchi M, DiDonato S, Zeviani M.

 
Abstract
Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB).
Gene. 1993 Apr 30;126(2):219-25.
PMID: 8482537 [PubMed - indexed for MEDLINE]
54:

Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S.

 
Abstract
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.
Eur J Hum Genet. 1993;1(1):80-7. Erratum in: Eur J Hum Genet 1993;1(2):124.
PMID: 8069654 [PubMed - indexed for MEDLINE]
55:

Tiranti V, Barat-Gueride B, Bijl J, DiDonato S, Zeviani M.

 
Free in PMC
A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis.
Nucleic Acids Res. 1991 Aug 11;19(15):4291. No abstract available.
PMID: 1870981 [PubMed - indexed for MEDLINE]
 
56:

Zeviani M, Gellera C, Antozzi C, Rimoldi M, Morandi L, Villani F, Tiranti V, DiDonato S.

 
Abstract
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR).
Lancet. 1991 Jul 20;338(8760):143-7.
PMID: 1677065 [PubMed - indexed for MEDLINE]