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Items: 22

1.

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
2.

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.

Al-Behadili A, Uhler JP, Berglund AK, Peter B, Doimo M, Reyes A, Wanrooij S, Zeviani M, Falkenberg M.

Nucleic Acids Res. 2018 Oct 12;46(18):9471-9483. doi: 10.1093/nar/gky708.

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.

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.

Nasca A, Rizza T, Doimo M, Legati A, Ciolfi A, Diodato D, Calderan C, Carrara G, Lamantea E, Aiello C, Di Nottia M, Niceta M, Lamperti C, Ardissone A, Bianchi-Marzoli S, Iarossi G, Bertini E, Moroni I, Tartaglia M, Salviati L, Carrozzo R, Ghezzi D.

Orphanet J Rare Dis. 2017 May 12;12(1):89. doi: 10.1186/s13023-017-0641-1.

6.

Primary Coenzyme Q10 Deficiency.

Salviati L, Trevisson E, Doimo M, Navas P.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Jan 26.

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.

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.

Doimo M, Lopreiato R, Basso V, Bortolotto R, Tessa A, Santorelli FM, Trevisson E, Salviati L.

JIMD Rep. 2016;28:119-126. Epub 2015 Nov 21.

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.

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.

Doimo M, Trevisson E, Airik R, Bergdoll M, Santos-Ocaña C, Hildebrandt F, Navas P, Pierrel F, Salviati L.

Biochim Biophys Acta. 2014 Jan;1842(1):1-6. doi: 10.1016/j.bbadis.2013.10.007. Epub 2013 Oct 18.

14.

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
15.

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.

Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E.

J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8.

PMID:
22569581
16.

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.

17.

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.

18.

Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.

Doimo M, Trevisson E, Sartori G, Burlina A, Salviati L.

J Inherit Metab Dis. 2012 May;35(3):557-8. doi: 10.1007/s10545-011-9402-9. Epub 2012 Jan 10. No abstract available.

PMID:
22231378
19.

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.

20.

X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.

Casarin A, Rusalen F, Doimo M, Trevisson E, Carraro S, Clementi M, Tenconi R, Baraldi E, Salviati L.

Am J Med Genet A. 2009 Nov;149A(11):2464-8. doi: 10.1002/ajmg.a.33039.

PMID:
19839041
21.

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.

22.

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.

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