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Items: 29


CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

Laera L, Punzi G, Porcelli V, Gambacorta N, Trisolini L, Pierri CL, De Grassi A.

Hum Mutat. 2019 Aug 26. doi: 10.1002/humu.23901. [Epub ahead of print]


Translational Theragnostic of Ovarian Cancer: Where do we stand?

Perrone MG, Luisi O, De Grassi A, Ferorelli S, Cormio G, Scilimati A.

Curr Med Chem. 2019 Aug 16. doi: 10.2174/0929867326666190816232330. [Epub ahead of print]


A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.

Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY.

Mitochondrion. 2019 Jul;47:10-17. doi: 10.1016/j.mito.2019.04.004. Epub 2019 Apr 19.


Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, Moldovan GL.

Am J Hum Genet. 2019 Jan 3;104(1):179-185. doi: 10.1016/j.ajhg.2018.11.018. Epub 2018 Dec 27.


An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Pop A, Williams M, Struys EA, Monné M, Jansen EEW, De Grassi A, Kanhai WA, Scarcia P, Ojeda MRF, Porcelli V, van Dooren SJM, Lennertz P, Nota B, Abdenur JE, Coman D, Das AM, El-Gharbawy A, Nuoffer JM, Polic B, Santer R, Weinhold N, Zuccarelli B, Palmieri F, Palmieri L, Salomons GS.

J Inherit Metab Dis. 2018 Mar;41(2):169-180. doi: 10.1007/s10545-017-0106-7. Epub 2017 Dec 13.


SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P, Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V, Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F, De Grassi A.

Hum Mol Genet. 2018 Feb 1;27(3):499-504. doi: 10.1093/hmg/ddx419.


Biochemical characterization of a new mitochondrial transporter of dephosphocoenzyme A in Drosophila melanogaster.

Vozza A, De Leonardis F, Paradies E, De Grassi A, Pierri CL, Parisi G, Marobbio CMT, Lasorsa FM, Muto L, Capobianco L, Dolce V, Raho S, Fiermonte G.

Biochim Biophys Acta Bioenerg. 2017 Feb;1858(2):137-146. doi: 10.1016/j.bbabio.2016.11.006. Epub 2016 Nov 9.


Characterization of Citrus-Associated Alternaria Species in Mediterranean Areas.

Garganese F, Schena L, Siciliano I, Prigigallo MI, Spadaro D, De Grassi A, Ippolito A, Sanzani SM.

PLoS One. 2016 Sep 16;11(9):e0163255. doi: 10.1371/journal.pone.0163255. eCollection 2016.


AGC1/2, the mitochondrial aspartate-glutamate carriers.

Amoedo ND, Punzi G, Obre E, Lacombe D, De Grassi A, Pierri CL, Rossignol R.

Biochim Biophys Acta. 2016 Oct;1863(10):2394-412. doi: 10.1016/j.bbamcr.2016.04.011. Epub 2016 Apr 28. Review.


Molecular modeling of antibodies for the treatment of TNFα-related immunological diseases.

Pierri CL, Bossis F, Punzi G, De Grassi A, Cetrone M, Parisi G, Tricarico D.

Pharmacol Res Perspect. 2016 Jan 15;4(1):e00197. doi: 10.1002/prp2.197. eCollection 2016 Feb.


Identification of new highly selective inhibitors of the human ADP/ATP carriers by molecular docking and in vitro transport assays.

Todisco S, Di Noia MA, Onofrio A, Parisi G, Punzi G, Redavid G, De Grassi A, Pierri CL.

Biochem Pharmacol. 2016 Jan 15;100:112-32. doi: 10.1016/j.bcp.2015.11.019. Epub 2015 Nov 23.


Deep sequencing of the X chromosome reveals the proliferation history of colorectal adenomas.

De Grassi A, Iannelli F, Cereda M, Volorio S, Melocchi V, Viel A, Basso G, Laghi L, Caselle M, Ciccarelli FD.

Genome Biol. 2014 Aug 30;15(8):437. doi: 10.1186/s13059-014-0437-8.


Origin and evolution of European community-acquired methicillin-resistant Staphylococcus aureus.

Stegger M, Wirth T, Andersen PS, Skov RL, De Grassi A, Simões PM, Tristan A, Petersen A, Aziz M, Kiil K, Cirković I, Udo EE, del Campo R, Vuopio-Varkila J, Ahmad N, Tokajian S, Peters G, Schaumburg F, Olsson-Liljequist B, Givskov M, Driebe EE, Vigh HE, Shittu A, Ramdani-Bougessa N, Rasigade JP, Price LB, Vandenesch F, Larsen AR, Laurent F.

MBio. 2014 Aug 26;5(5):e01044-14. doi: 10.1128/mBio.01044-14.


Distance-dependent hydrophobic-hydrophobic contacts in protein folding simulations.

Onofrio A, Parisi G, Punzi G, Todisco S, Di Noia MA, Bossis F, Turi A, De Grassi A, Pierri CL.

Phys Chem Chem Phys. 2014 Sep 21;16(35):18907-17. doi: 10.1039/c4cp01131g.


Prediction of high- and low-affinity quinol-analogue-binding sites in the aa3 and bo3 terminal oxidases from Bacillus subtilis and Escherichia coli1.

Bossis F, De Grassi A, Palese LL, Pierri CL.

Biochem J. 2014 Jul 15;461(2):305-14. doi: 10.1042/BJ20140082.


Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.

Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H.

J Neuromuscul Dis. 2014;1(1):75-90.


Single-nucleotide evolution quantifies the importance of each site along the structure of mitochondrial carriers.

Pierri CL, Palmieri F, De Grassi A.

Cell Mol Life Sci. 2014 Jan;71(2):349-64. doi: 10.1007/s00018-013-1389-y. Epub 2013 Jun 26.


Evolution, structure and function of mitochondrial carriers: a review with new insights.

Palmieri F, Pierri CL, De Grassi A, Nunes-Nesi A, Fernie AR.

Plant J. 2011 Apr;66(1):161-81. doi: 10.1111/j.1365-313X.2011.04516.x. Review.


Ultradeep sequencing of a human ultraconserved region reveals somatic and constitutional genomic instability.

De Grassi A, Segala C, Iannelli F, Volorio S, Bertario L, Radice P, Bernard L, Ciccarelli FD.

PLoS Biol. 2010 Jan;8(1):e1000275. doi: 10.1371/journal.pbio.1000275. Epub 2010 Jan 5.


Tandem repeats modify the structure of human genes hosted in segmental duplications.

De Grassi A, Ciccarelli FD.

Genome Biol. 2009;10(12):R137. doi: 10.1186/gb-2009-10-12-r137. Epub 2009 Dec 2.


Genome duplication and gene-family evolution: the case of three OXPHOS gene families.

De Grassi A, Lanave C, Saccone C.

Gene. 2008 Sep 15;421(1-2):1-6. doi: 10.1016/j.gene.2008.05.011. Epub 2008 Jun 23. Review.


Lattices for ab initio protein structure prediction.

Pierri CL, De Grassi A, Turi A.

Proteins. 2008 Nov 1;73(2):351-61. doi: 10.1002/prot.22070.


p53FamTaG: a database resource of human p53, p63 and p73 direct target genes combining in silico prediction and microarray data.

Sbisà E, Catalano D, Grillo G, Licciulli F, Turi A, Liuni S, Pesole G, De Grassi A, Caratozzolo MF, D'Erchia AM, Navarro B, Tullo A, Saccone C, Gisel A.

BMC Bioinformatics. 2007 Mar 8;8 Suppl 1:S20.


Relative impact of nucleotide and copy number variation on gene expression phenotypes.

Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, Redon R, Bird CP, de Grassi A, Lee C, Tyler-Smith C, Carter N, Scherer SW, Tavaré S, Deloukas P, Hurles ME, Dermitzakis ET.

Science. 2007 Feb 9;315(5813):848-53.


Metazoan OXPHOS gene families: evolutionary forces at the level of mitochondrial and nuclear genomes.

Saccone C, Lanave C, De Grassi A.

Biochim Biophys Acta. 2006 Sep-Oct;1757(9-10):1171-8. Epub 2006 May 4. Review.


Evolution of ATP synthase subunit c and cytochrome c gene families in selected Metazoan classes.

De Grassi A, Lanave C, Saccone C.

Gene. 2006 Apr 26;371(2):224-33. Epub 2006 Feb 7.


Evolution of nuclearly encoded mitochondrial genes in Metazoa.

De Grassi A, Caggese C, D'Elia D, Lanave C, Pesole G, Saccone C.

Gene. 2005 Jul 18;354:181-8.


A look at bovine welfare--what's good, what's bad, and the lessons within.

De Grassi A.

J Am Vet Med Assoc. 2001 Nov 15;219(10):1369-73. No abstract available.


B cell lymphoma of the thymus and salivary gland.

Di Loreto C, Mariuzzi L, De Grassi A, Beltrami CA.

J Clin Pathol. 1996 Jul;49(7):595-7.

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