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Items: 1 to 20 of 58

1.

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.

PMID:
30595371
2.

The Bacterial Protein CNF1 as a Potential Therapeutic Strategy against Mitochondrial Diseases: A Pilot Study.

Fabbri A, Travaglione S, Maroccia Z, Guidotti M, Pierri CL, Primiano G, Servidei S, Loizzo S, Fiorentini C.

Int J Mol Sci. 2018 Jun 21;19(7). pii: E1825. doi: 10.3390/ijms19071825.

3.

Metabolic routes in inflammation: the citrate pathway and its potential as therapeutic target.

Infantino V, Pierri CL, Iacobazzi V.

Curr Med Chem. 2018 May 10. doi: 10.2174/0929867325666180510124558. [Epub ahead of print]

PMID:
29745322
4.

Effect of cariporide on ram sperm pH regulation and motility: possible role of NHE1.

Muzzachi S, Guerra L, Martino NA, Favia M, Punzi G, Silvestre F, Guaricci AC, Roscino MT, Pierri CL, Dell'Aquila ME, Casavola V, Lacalandra GM, Ciani E.

Reproduction. 2018 May;155(5):433-445. doi: 10.1530/REP-17-0456. Epub 2018 Feb 28.

PMID:
29491124
5.

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.

6.

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.

7.

Nitro-substituted tetrahydroindolizines and homologs: Design, kinetics, and mechanism of α-glucosidase inhibition.

Tavani C, Bianchi L, De Palma A, Passeri GI, Punzi G, Pierri CL, Lovece A, Cavalluzzi MM, Franchini C, Lentini G, Petrillo G.

Bioorg Med Chem Lett. 2017 Sep 1;27(17):3980-3986. doi: 10.1016/j.bmcl.2017.07.068. Epub 2017 Jul 27.

PMID:
28781158
8.

A novel t(3;9)(q21.2; p24.3) associated with SMARCA2 and ZNF148 genes rearrangement in myelodysplastic syndrome.

Coccaro N, Brunetti C, Tota G, Pierri CL, Anelli L, Zagaria A, Casieri P, Impera L, Minervini CF, Minervini A, Cumbo C, Ricco A, Carluccio P, Orsini P, Specchia G, Albano F.

Leuk Lymphoma. 2018 Apr;59(4):996-999. doi: 10.1080/10428194.2017.1352093. Epub 2017 Jul 18. No abstract available.

PMID:
28718702
9.

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.

10.

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.

11.

New insights about the structural rearrangements required for substrate translocation in the bovine mitochondrial oxoglutarate carrier.

Curcio R, Muto L, Pierri CL, Montalto A, Lauria G, Onofrio A, Fiorillo M, Fiermonte G, Lunetti P, Vozza A, Capobianco L, Cappello AR, Dolce V.

Biochim Biophys Acta. 2016 Nov;1864(11):1473-80. doi: 10.1016/j.bbapap.2016.07.009. Epub 2016 Jul 30.

PMID:
27479487
12.

Dataset of the AAC2 conformations in the c-, intermediate- and m-states obtained from free-energy simulations.

Pietropaolo A, Pierri CL, Palmieri F, Klingenberg M.

Data Brief. 2016 Apr 13;7:1355-7. doi: 10.1016/j.dib.2016.04.022. eCollection 2016 Jun.

13.

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.

14.

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.

15.

A Variant of GJD2, Encoding for Connexin 36, Alters the Function of Insulin Producing β-Cells.

Cigliola V, Populaire C, Pierri CL, Deutsch S, Haefliger JA, Fadista J, Lyssenko V, Groop L, Rueedi R, Thorel F, Herrera PL, Meda P.

PLoS One. 2016 Mar 9;11(3):e0150880. doi: 10.1371/journal.pone.0150880. eCollection 2016.

16.

The switching mechanism of the mitochondrial ADP/ATP carrier explored by free-energy landscapes.

Pietropaolo A, Pierri CL, Palmieri F, Klingenberg M.

Biochim Biophys Acta. 2016 Jun;1857(6):772-81. doi: 10.1016/j.bbabio.2016.02.006. Epub 2016 Feb 10.

17.

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.

PMID:
26616220
18.

Acetylation of human mitochondrial citrate carrier modulates mitochondrial citrate/malate exchange activity to sustain NADPH production during macrophage activation.

Palmieri EM, Spera I, Menga A, Infantino V, Porcelli V, Iacobazzi V, Pierri CL, Hooper DC, Palmieri F, Castegna A.

Biochim Biophys Acta. 2015 Aug;1847(8):729-38. doi: 10.1016/j.bbabio.2015.04.009. Epub 2015 Apr 24.

19.

Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant.

Marobbio CM, Punzi G, Pierri CL, Palmieri L, Calvello R, Panaro MA, Palmieri F.

Mol Genet Metab. 2015 May;115(1):27-32. doi: 10.1016/j.ymgme.2015.03.003. Epub 2015 Mar 17.

PMID:
25818551
20.

Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia.

Shteyer E, Edvardson S, Wynia-Smith SL, Pierri CL, Zangen T, Hashavya S, Begin M, Yaacov B, Cinamon Y, Koplewitz BZ, Vromen A, Elpeleg O, Smith BC.

Gastroenterology. 2015 Mar;148(3):533-536.e4. doi: 10.1053/j.gastro.2014.11.044. Epub 2014 Dec 3.

PMID:
25479138

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