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Items: 17

1.

Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6.

Acosta Lopez MJ, Trevisson E, Canton M, Vazquez-Fonseca L, Morbidoni V, Baschiera E, Frasson C, Pelosi L, Rascalou B, Desbats MA, Alcázar-Fabra M, Ríos JJ, Sánchez-García A, Basso G, Navas P, Pierrel F, Brea-Calvo G, Salviati L.

Oxid Med Cell Longev. 2019 Jul 10;2019:3904905. doi: 10.1155/2019/3904905. eCollection 2019.

2.

Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina.

Montioli R, Desbats MA, Grottelli S, Doimo M, Bellezza I, Borri Voltattorni C, Salviati L, Cellini B.

Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3629-3638. doi: 10.1016/j.bbadis.2018.08.032. Epub 2018 Aug 26.

PMID:
30251682
3.

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.

Cerqua C, Morbidoni V, Desbats MA, Doimo M, Frasson C, Sacconi S, Baldoin MC, Sartori G, Basso G, Salviati L, Trevisson E.

Biochim Biophys Acta Bioenerg. 2018 Apr;1859(4):244-252. doi: 10.1016/j.bbabio.2018.01.004. Epub 2018 Feb 3.

4.

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.

Vazquez Fonseca L, Doimo M, Calderan C, Desbats MA, Acosta MJ, Cerqua C, Cassina M, Ashraf S, Hildebrandt F, Sartori G, Navas P, Trevisson E, Salviati L.

Hum Mutat. 2018 Mar;39(3):406-414. doi: 10.1002/humu.23376. Epub 2017 Dec 18.

5.

Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence.

Tezze C, Romanello V, Desbats MA, Fadini GP, Albiero M, Favaro G, Ciciliot S, Soriano ME, Morbidoni V, Cerqua C, Loefler S, Kern H, Franceschi C, Salvioli S, Conte M, Blaauw B, Zampieri S, Salviati L, Scorrano L, Sandri M.

Cell Metab. 2017 Jun 6;25(6):1374-1389.e6. doi: 10.1016/j.cmet.2017.04.021. Epub 2017 May 25.

6.

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients.

Borgia D, Malena A, Spinazzi M, Desbats MA, Salviati L, Russell AP, Miotto G, Tosatto L, Pegoraro E, Sorarù G, Pennuto M, Vergani L.

Hum Mol Genet. 2017 Mar 15;26(6):1087-1103. doi: 10.1093/hmg/ddx019.

7.

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.

Desbats MA, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M, Sacconi S, Hirano M, Basso G, Pierrel F, Navas P, Salviati L, Trevisson E.

Hum Mol Genet. 2016 Oct 1;25(19):4256-4265. doi: 10.1093/hmg/ddw257. Epub 2016 Aug 4.

PMID:
27493029
8.

Coenzyme Q biosynthesis in health and disease.

Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E, Salviati L.

Biochim Biophys Acta. 2016 Aug;1857(8):1079-1085. doi: 10.1016/j.bbabio.2016.03.036. Epub 2016 Apr 7. Review.

9.

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.

Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L.

Eur J Hum Genet. 2015 Sep;23(9):1254-8. doi: 10.1038/ejhg.2014.277. Epub 2015 Jan 7.

10.

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.

Nguyen TP, Casarin A, Desbats MA, Doimo M, Trevisson E, Santos-Ocaña C, Navas P, Clarke CF, Salviati L.

Biochim Biophys Acta. 2014 Nov;1841(11):1628-38. doi: 10.1016/j.bbalip.2014.08.007. Epub 2014 Aug 23.

11.

Genetics of coenzyme q10 deficiency.

Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L.

Mol Syndromol. 2014 Jul;5(3-4):156-62. doi: 10.1159/000362826.

12.

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L.

J Inherit Metab Dis. 2015 Jan;38(1):145-56. doi: 10.1007/s10545-014-9749-9. Epub 2014 Aug 5. Review.

PMID:
25091424
13.

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Doimo M, Desbats MA, Baldoin MC, Lenzini E, Basso G, Murphy E, Graziano C, Seri M, Burlina A, Sartori G, Trevisson E, Salviati L.

Hum Mutat. 2013 Jan;34(1):229-36. doi: 10.1002/humu.22233. Epub 2012 Oct 17.

PMID:
23076989
14.

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.

15.

Visualization by BiFC of different C/EBPβ dimers and their interaction with HP1α reveals a differential subnuclear distribution of complexes in living cells.

Susperreguy S, Prendes LP, Desbats MA, Charó NL, Brown K, MacDougald OA, Kerppola T, Schwartz J, Piwien-Pilipuk G.

Exp Cell Res. 2011 Apr 1;317(6):706-23. doi: 10.1016/j.yexcr.2010.11.008. Epub 2010 Nov 28.

16.

RNA granules: the good, the bad and the ugly.

Thomas MG, Loschi M, Desbats MA, Boccaccio GL.

Cell Signal. 2011 Feb;23(2):324-34. doi: 10.1016/j.cellsig.2010.08.011. Epub 2010 Sep 8. Review.

17.

Mammalian Staufen 1 is recruited to stress granules and impairs their assembly.

Thomas MG, Martinez Tosar LJ, Desbats MA, Leishman CC, Boccaccio GL.

J Cell Sci. 2009 Feb 15;122(Pt 4):563-73. doi: 10.1242/jcs.038208.

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