Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 293

1.

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.

Trifunov S, Pyle A, Valentino ML, Liguori R, Yu-Wai-Man P, Burté F, Duff J, Kleinle S, Diebold I, Rugolo M, Horvath R, Carelli V.

Sci Rep. 2018 Aug 3;8(1):11682. doi: 10.1038/s41598-018-30143-z.

2.

Clinical syndromes associated with mtDNA mutations: where we stand after 30 years.

Carelli V, La Morgia C.

Essays Biochem. 2018 Jul 20;62(3):235-254. doi: 10.1042/EBC20170097. Print 2018 Jul 20. Review.

PMID:
30030360
3.

Corrigendum to: "Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III." [Biochim. Biophys. Acta 2018;1859(3):182-190.].

Tropeano CV, Fiori J, Carelli V, Caporali L, Daldal F, Ghelli AM, Rugolo M.

Biochim Biophys Acta. 2018 Jun 26. pii: S0005-2728(18)30158-0. doi: 10.1016/j.bbabio.2018.06.010. [Epub ahead of print] No abstract available.

PMID:
29909117
4.

Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria.

Ayeni FA, Biagi E, Rampelli S, Fiori J, Soverini M, Audu HJ, Cristino S, Caporali L, Schnorr SL, Carelli V, Brigidi P, Candela M, Turroni S.

Cell Rep. 2018 Jun 5;23(10):3056-3067. doi: 10.1016/j.celrep.2018.05.018.

5.

Peripapillary vessel density changes in Leber's hereditary optic neuropathy: a new biomarker.

Balducci N, Cascavilla ML, Ciardella A, La Morgia C, Triolo G, Parisi V, Bandello F, Sadun AA, Carelli V, Barboni P.

Clin Exp Ophthalmol. 2018 May 22. doi: 10.1111/ceo.13326. [Epub ahead of print]

PMID:
29790285
6.

The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects.

Giorgio V, Schiavone M, Galber C, Carini M, Da Ros T, Petronilli V, Argenton F, Carelli V, Acosta Lopez MJ, Salviati L, Prato M, Bernardi P.

Biochim Biophys Acta. 2018 Sep;1859(9):901-908. doi: 10.1016/j.bbabio.2018.04.006. Epub 2018 Apr 22. Review.

PMID:
29694828
7.

Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations.

Chen Q, Kirk K, Shurubor YI, Zhao D, Arreguin AJ, Shahi I, Valsecchi F, Primiano G, Calder EL, Carelli V, Denton TT, Beal MF, Gross SS, Manfredi G, D'Aurelio M.

Cell Metab. 2018 May 1;27(5):1007-1025.e5. doi: 10.1016/j.cmet.2018.03.002. Epub 2018 Apr 12.

PMID:
29657030
8.

Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases.

Strobbe D, Caporali L, Iommarini L, Maresca A, Montopoli M, Martinuzzi A, Achilli A, Olivieri A, Torroni A, Carelli V, Ghelli A.

Neurobiol Dis. 2018 Jun;114:129-139. doi: 10.1016/j.nbd.2018.02.010. Epub 2018 Feb 24.

PMID:
29486301
9.

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models.

Iannielli A, Bido S, Folladori L, Segnali A, Cancellieri C, Maresca A, Massimino L, Rubio A, Morabito G, Caporali L, Tagliavini F, Musumeci O, Gregato G, Bezard E, Carelli V, Tiranti V, Broccoli V.

Cell Rep. 2018 Feb 20;22(8):2066-2079. doi: 10.1016/j.celrep.2018.01.089.

10.

OPA1: How much do we know to approach therapy?

Del Dotto V, Fogazza M, Lenaers G, Rugolo M, Carelli V, Zanna C.

Pharmacol Res. 2018 May;131:199-210. doi: 10.1016/j.phrs.2018.02.018. Epub 2018 Feb 15. Review.

PMID:
29454676
11.

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

Caporali L, Iommarini L, La Morgia C, Olivieri A, Achilli A, Maresca A, Valentino ML, Capristo M, Tagliavini F, Del Dotto V, Zanna C, Liguori R, Barboni P, Carbonelli M, Cocetta V, Montopoli M, Martinuzzi A, Cenacchi G, De Michele G, Testa F, Nesti A, Simonelli F, Porcelli AM, Torroni A, Carelli V.

PLoS Genet. 2018 Feb 14;14(2):e1007210. doi: 10.1371/journal.pgen.1007210. eCollection 2018 Feb.

12.

Eight human OPA1 isoforms, long and short: What are they for?

Del Dotto V, Fogazza M, Carelli V, Rugolo M, Zanna C.

Biochim Biophys Acta. 2018 Apr;1859(4):263-269. doi: 10.1016/j.bbabio.2018.01.005. Epub 2018 Jan 31. Review.

PMID:
29382469
13.

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

Gramegna LL, Pisano A, Testa C, Manners DN, D'Angelo R, Boschetti E, Giancola F, Pironi L, Caporali L, Capristo M, Valentino ML, Plazzi G, Casali C, Dotti MT, Cenacchi G, Hirano M, Giordano C, Parchi P, Rinaldi R, De Giorgio R, Lodi R, Carelli V, Tonon C.

AJNR Am J Neuroradiol. 2018 Jan 18. doi: 10.3174/ajnr.A5507. [Epub ahead of print]

PMID:
29348134
14.

Patterns of Retinal Ganglion Cell Damage in Neurodegenerative Disorders: Parvocellular vs Magnocellular Degeneration in Optical Coherence Tomography Studies.

La Morgia C, Di Vito L, Carelli V, Carbonelli M.

Front Neurol. 2017 Dec 22;8:710. doi: 10.3389/fneur.2017.00710. eCollection 2017. Review.

15.

Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III.

Tropeano CV, Fiori J, Carelli V, Caporali L, Daldal F, Ghelli AM, Rugolo M.

Biochim Biophys Acta. 2018 Mar;1859(3):182-190. doi: 10.1016/j.bbabio.2017.12.003. Epub 2017 Dec 18. Erratum in: Biochim Biophys Acta. 2018 Jun 26;:.

16.

DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.

Caporali L, Bello L, Tagliavini F, La Morgia C, Maresca A, Di Vito L, Liguori R, Valentino ML, Cecchin D, Pegoraro E, Carelli V.

Brain. 2018 Jan 1;141(1):e3. doi: 10.1093/brain/awx301. No abstract available.

PMID:
29228108
17.

Management of ophthalmologic manifestations of mitochondrial diseases.

Newman NJ, Yu-Wai-Man P, Sadun AA, Karanjia R, Carelli V.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.171. Epub 2017 Oct 26. No abstract available.

PMID:
29215643
18.

The Photopic Negative Response: An Objective Measure of Retinal Ganglion Cell Function in Patients With Leber's Hereditary Optic Neuropathy.

Karanjia R, Berezovsky A, Sacai PY, Cavascan NN, Liu HY, Nazarali S, Moraes-Filho MN, Anderson K, Tran JS, Watanabe SE, Moraes MN, Sadun F, DeNegri AM, Barboni P, do Val Ferreira Ramos C, La Morgia C, Carelli V, Belfort R Jr, Coupland SG, Salomao SR, Sadun AA.

Invest Ophthalmol Vis Sci. 2017 May 1;58(6):BIO300-BIO306. doi: 10.1167/iovs.17-21773.

PMID:
29049835
19.

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

Carelli V, Carbonelli M, de Coo IF, Kawasaki A, Klopstock T, Lagrèze WA, La Morgia C, Newman NJ, Orssaud C, Pott JWR, Sadun AA, van Everdingen J, Vignal-Clermont C, Votruba M, Yu-Wai-Man P, Barboni P.

J Neuroophthalmol. 2017 Dec;37(4):371-381. doi: 10.1097/WNO.0000000000000570.

PMID:
28991104
20.

Optic neuropathies: the tip of the neurodegeneration iceberg.

Carelli V, La Morgia C, Ross-Cisneros FN, Sadun AA.

Hum Mol Genet. 2017 Oct 1;26(R2):R139-R150. doi: 10.1093/hmg/ddx273. Review.

Supplemental Content

Loading ...
Support Center