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Items: 12

1.

Transcriptional programming of lipid and amino acid metabolism by the skeletal muscle circadian clock.

Dyar KA, Hubert MJ, Mir AA, Ciciliot S, Lutter D, Greulich F, Quagliarini F, Kleinert M, Fischer K, Eichmann TO, Wright LE, Peña Paz MI, Casarin A, Pertegato V, Romanello V, Albiero M, Mazzucco S, Rizzuto R, Salviati L, Biolo G, Blaauw B, Schiaffino S, Uhlenhaut NH.

PLoS Biol. 2018 Aug 10;16(8):e2005886. doi: 10.1371/journal.pbio.2005886. eCollection 2018 Aug. Erratum in: PLoS Biol. 2018 Sep 26;16(9):e3000035.

2.

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells.

Spinazzi M, Casarin A, Pertegato V, Salviati L, Angelini C.

Nat Protoc. 2012 May 31;7(6):1235-46. doi: 10.1038/nprot.2012.058.

PMID:
22653162
3.

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.

Casarin A, Giorgi G, Pertegato V, Siviero R, Cerqua C, Doimo M, Basso G, Sacconi S, Cassina M, Rizzuto R, Brosel S, M Davidson M, Dimauro S, Schon EA, Clementi M, Trevisson E, Salviati L.

Orphanet J Rare Dis. 2012 Apr 19;7:21.

4.

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C, Navas P.

J Med Genet. 2012 Mar;49(3):187-91. doi: 10.1136/jmedgenet-2011-100394.

5.

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.

Spinazzi M, Casarin A, Pertegato V, Ermani M, Salviati L, Angelini C.

Mitochondrion. 2011 Nov;11(6):893-904. doi: 10.1016/j.mito.2011.07.006. Epub 2011 Aug 9.

PMID:
21855655
6.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F.

J Clin Invest. 2011 May;121(5):2013-24. doi: 10.1172/JCI45693. Epub 2011 Apr 11.

7.

Is CFTR 621+3 A>G a cystic fibrosis causing mutation?

Forzan M, Salviati L, Pertegato V, Casarin A, Bruson A, Trevisson E, Di Gianantonio E, Clementi M.

J Hum Genet. 2010 Jan;55(1):23-6. doi: 10.1038/jhg.2009.115. Epub 2009 Nov 6.

PMID:
19893581
8.

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.

Trevisson E, Burlina A, Doimo M, Pertegato V, Casarin A, Cesaro L, Navas P, Basso G, Sartori G, Salviati L.

J Biol Chem. 2009 Oct 16;284(42):28926-34. doi: 10.1074/jbc.M109.050195. Epub 2009 Aug 24.

9.

A toolkit for real-time detection of cAMP: insights into compartmentalized signaling.

Berrera M, Dodoni G, Monterisi S, Pertegato V, Zamparo I, Zaccolo M.

Handb Exp Pharmacol. 2008;(186):285-98. doi: 10.1007/978-3-540-72843-6_12. Review.

PMID:
18491057
10.

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.

Casarin A, Jimenez-Ortega JC, Trevisson E, Pertegato V, Doimo M, Ferrero-Gomez ML, Abbadi S, Artuch R, Quinzii C, Hirano M, Basso G, Ocaña CS, Navas P, Salviati L.

Biochem Biophys Res Commun. 2008 Jul 18;372(1):35-9. doi: 10.1016/j.bbrc.2008.04.172. Epub 2008 May 12.

11.

Unitary permeability of gap junction channels to second messengers measured by FRET microscopy.

Hernandez VH, Bortolozzi M, Pertegato V, Beltramello M, Giarin M, Zaccolo M, Pantano S, Mammano F.

Nat Methods. 2007 Apr;4(4):353-8. Epub 2007 Mar 11.

PMID:
17351620
12.

PGE(1) stimulation of HEK293 cells generates multiple contiguous domains with different [cAMP]: role of compartmentalized phosphodiesterases.

Terrin A, Di Benedetto G, Pertegato V, Cheung YF, Baillie G, Lynch MJ, Elvassore N, Prinz A, Herberg FW, Houslay MD, Zaccolo M.

J Cell Biol. 2006 Nov 6;175(3):441-51.

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