Dato C, Capaldo G, Terracciano C, Napolitano F, D'Amico A, Pappata S, Santorelli FM, Di Iorio G, Sampaolo S, Melone MA

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging
Radiol Case Rep (ISSN: 1930-0433linking), 2018 Dec 5; 14(3): 309-314.

De Michele G, Sorrentino P, Nesti C, Rubegni A, Ruggiero L, Peluso S, Antenora A, Quarantelli M, Filla A, De Michele G, Santorelli FM

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome
Front Neurol (ISSN: 1664-2295linking, 1664-2295print), 2018 Aug 30; 9(AUG): 728-728.

Calvanese L, D'Auria G, Vangone A, Falcigno L, Oliva R

Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases
Int J Mol Sc (ISSN: 1422-0067linking, 1422-0067electronic, 1661-6596), 2018 May 25; 19(6): N/D-N/D.

Buonanno M, Di Fiore A, Langella E, D’ambrosio K, Supuran CT, Monti SM, De Simone G

The Crystal Structure of a hCA VII Variant Provides Insights into the Molecular Determinants Responsible for Its Catalytic Behavior
Int J Mol Sc (ISSN: 1661-6596, 1422-0067, 1422-0067electronic), 2018 May; 19(6): 19-24.

Simonetti I, Trovato P, Verde F, Tarotto L, Della Casa R, Lonardo MC, Vallone G, Caprio MG

A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome
J Ultrasound (ISSN: 1876-7931electronic, 1876-7931linking, 1971-3495), 2018 Mar 3; 21(3): 249-252.

De Rosa A, Peluso S, De Lucia N, Russo P, Annarumma I, Esposito M, Manganelli F, Brunetti A, De Michele G, Pappata S

Cognitive profile and 18F-fluorodeoxyglucose PET study in LRRK2-related Parkinson's disease
Parkinsonism Relat Disord (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2018 Feb; 47: 80-83.

Gaglione R, Smaldone G, Di Girolamo R, Piccoli R, Pedone E, Arciello A

Cell milieu significantly affects the fate of AApoAI amyloidogenic variants: predestination or serendipity?
BBA-BIOENERGETICS (ISSN: 0005-2728), 2017 Nov 23; 1862(3): 377-384.

Carecchio M, Picillo M, Valletta L, Elia AE, Haack TB, Cozzolino A, Vitale A, Garavaglia B, Iuso A, Bagella CF, Pappata S, Barone P, Prokisch H, Romito L, Tiranti V

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
NEUROGENETICS (ISSN: 1364-6745), 2017 Jul; 18(3): 175-178.

Mercurio FA, Costantini S, Di Natale C, Pirone L, Guariniello S, Scognamiglio PL, Marasco D, Pedone EM, Leone M

Structural investigation of a C-terminal EphA2 receptor mutant: Does mutation affect the structure and interaction properties of the Sam domain?
BBA-BIOENERGETICS (ISSN: 0005-2728), 2017 Jun 06; 1865(9): 1095-1104.

Sacchi S, Cappelletti P, Pirone L, Smaldone G, Pedone E, Pollegioni L

Elucidating the role of the pLG72 R30K substitution in schizophrenia susceptibility
FEBS LETT (ISSN: 1873-3468), 2017 Feb; 591(4): 646-655.

De Rosa A, Pellegrino T, Pappata S, Pellecchia MT, Peluso S, Sacca F, Barone P, Cuocolo A, De Michele G

Myocardial 123I-metaiodobenzylguanidine scintigraphy in patients with homozygous and heterozygous parkin mutations
J NUCL CARDIOL (ISSN: 1071-3581), 2017 Feb; 24(1): 103-107.

Bilo L, Antenora A, Peluso S, Procaccini EM, Quarantelli M, Mansueto G, Cigoli MS, Penco S, De Michele G

CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations
J DERMATOL (ISSN: 0385-2407), 2016 Feb 20; N/D: N/D-N/D.

Del Giudice R, Arciello A, Itri F, Merlino A, Monti M, Buonanno M, Penco A, Canetti D, Petruk G, Monti SM, Relini A, Pucci P, Piccoli R, Monti DM

Protein conformational perturbations in hereditary amyloidosis: Differential impact of single point mutations in ApoAI amyloidogenic variants
BBA-MOL BASIS DIS (ISSN: 0925-4439), 2016; 1860(2): 434-444.

Pica A, Chi M-C, Chen Y-Y, D'Ischia M, Lin L-L, Merlino A

The maturation mechanism of γ-glutamyl transpeptidases: Insights from the crystal structure of a precursor mimic of the enzyme from Bacillus licheniformis and from site-directed mutagenesis studies
BBA-MOL BASIS DIS (ISSN: 0925-4439), 2016; 1864(2): 195-203.

De Simone G, Di Fiore A, Capasso C, Supuran CT

The zinc coordination pattern in the eta-carbonic anhydrase from Plasmodium falciparum is different from all other carbonic anhydrase genetic families
BIOORG MED CHEM LETT (ISSN: 0960-894X), 2015 Apr 1; 25(7): 1385-1389.

Breveglieri G, Mancini I, Bianchi N, Lampronti I, Salvatori F, Fabbri E, Zuccato C, Cosenza LC, Montagner G, Borgatti M, Altruda F, Fagoonee S, Carandina G, Rubini M, Aiello V, Breda L, Rivella S, Gambari R, Finotti A

Generation and Characterization of a Transgenic Mouse Carrying a Functional Human beta -Globin Gene with the IVSI-6 Thalassemia Mutation
BIOMED RES INT (ISSN: 2314-6133), 2015; 2015: 687635-687635.

Ruggiero L, Fiorillo C, Tessa A, Manganelli F, Iodice R, Dubbioso R, Vitale F, Storti E, Soscia E, Santorelli F, Santoro L

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene
MUSCLE NERVE (ISSN: 0148-639X), 2015; 51(4): 604-608.

Perri F, Pacelli R, Della Vittoria Scarpati G, Cella L, Giuliano M, Caponigro F, Pepe S

Radioresistance in head and neck squamous cell carcinoma: Biological bases and therapeutic implications
HEAD NECK-J SCI SPEC (ISSN: 1043-3074), 2015; 37(5): 763-770.

Benetti F, Biarnés X, Attanasio F, Giachin G, Rizzarelli E, Legname G

Structural determinants in prion protein folding and stability
J MOL BIOL (ISSN: 0022-2836), 2014 Nov 11; 426(22): 3796-3810.

DeRosa A, Carducci C, Carducci C, Peluso S, Lieto M, Mazzella A, Saccà F, Brescia Morra V, Pappata S, Leuzzi V, De Michele G

Screening for dopa-responsive dystonia in patients with scans without evidence of dopaminergic deficiency (SWEDD)
J NEUROL (ISSN: 0340-5354), 2014 Nov; 261(11): 2204-2208.

Squeglia F, Ruggiero A, Romanò MF, Vitagliano L, Berisio R

Mutational and structural study of RipA, a key enzyme in Mycobacterium tuberculosis cell division: Evidence for the l-to-d inversion of configuration of the catalytic cysteine
Acta Crystallogr D Biol Crystallogr (ISSN: 0907-4449, 0907-4449linking), 2014 Sep; 70(9): 2295-2300.

Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappata S, Quarantelli M, Barone P, De Michele G, Bonifati V

Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family
NEUROGENETICS (ISSN: 1364-6745), 2014 Aug; 15(3): 183-188.

Zatelli MC, Tagliati F, Di Ruvo M, Castermans E, Cavazzini L, Daly AF, Ambrosio MR, Beckers A, degli Uberti E

Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression
FAM CANCER (ISSN: 1389-9600), 2014 Jun; 13(2): 273-280.

Bilo L, Peluso S, Antenora A, De Rosa A, Auletta G, Pappata S, De Michele G

Parkinsonism may be part of the symptom complex of DOOR syndrome
PARKINSONISM RELAT D (ISSN: 1353-8020), 2014 Apr; 20(4): 463-465.

Andreotti G, Citro V, Correra A, Cubellis MV

A thermodynamic assay to test pharmacological chaperones for Fabry disease
BBA-MOL BASIS DIS (ISSN: 0925-4439), 2014 Mar; 1840(3): 1214-1224.

Merlino A, Russo Krauss I, Castellano I, Ruocco MR, Capasso A, De Vendittis E, Rossi B, Sica F

Structural and denaturation studies of two mutants of a cold adapted superoxide dismutase point to the importance of electrostatic interactions in protein stability
BBA-MOL BASIS DIS (ISSN: 0925-4439), 2014 Mar; 1844(3): 632-640.

D'Ambrosio K, Lopez M, Dathan NA, Ouahrani-bettache S, Köhler S, Ascione G, Monti SM, Winum JY, De Simone G

Structural basis for the rational design of new anti-Brucella agents: The crystal structure of the C366S mutant of l-histidinol dehydrogenase from Brucella suis
BIOCHIMIE (ISSN: 0300-9084), 2014 Feb; 97(1): 114-120.

Testi S, Peluso S, Fabrizi GM, Antenora A, Russo CV, Pappata S, Padovani A, Ferrarini M, Filla A

A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia
J ALZHEIMERS DIS (ISSN: 1387-2877), 2014; 41(3): 709-714.

Sorriento D, Pascale AV, Finelli R, Carillo AL, Annunziata R, Trimarco B, Iaccarino G

Targeting mitochondria as therapeutic strategy for metabolic disorders
Sci World J The Scientific World Journal (ISSN: 1537-744x), 2014; 2014: N/D-N/D.

Milardi D, Sciacca MF, Randazzo L, Raudino A, La Rosa C

The role of calcium, lipid membranes and islet amyloid polypeptide in the onset of type 2 diabetes: Innocent bystanders or partners in a crime?
Front Endocrinol (ISSN: 1664-2392, 1664-2392linking, 1664-2392print), 2014; 5(DEC): 216-216.

Malgieri G, Palmieri M, Esposito S, Maione V, Russo L, Baglivo I, De Paola I, Milardi D, Diana D, Zaccaro L, Pedone PV, Fattorusso R, Isernia C

Zinc To Cadmium Replacement In The Prokaryotic Zinc-Finger Domain
Metallomics (ISSN: 1756-591x, 1756-5901, 1756-591xelectronic), 2013 Dec 18; 6(1): 96-104.

Pica A, Russo Krauss I, Merlino A, Nagatoishi S, Sugimoto N, Sica F

Dissecting the contribution of thrombin exosite I in the recognition of thrombin binding aptamer
Febs Journal (ISSN: 1742-464x), 2013 Dec; 280(24): 6581-6588.

Sica F, Pica A, Merlino A, Russo Krauss I, Ercole C, Picone D

The multiple forms of bovine seminal ribonuclease: Structure and stability of a C-terminal swapped dimer
Febs Lett (ISSN: 0014-5793, 0014-5793print, 1873-3468electronic), 2013 Nov 29; 587(23): 3755-3762.

Antenora A, Bilo L, Peluso S, Ruosi P, Quarantelli M, De Michele G

A Thalamic Cavernous Angioma: A Case Of Emichores/Aemiballism Associated To Gene Pdcd10/Ccm3 Gene Mutation
Second Joint Limpe / Dismov Sin Meeting Rome, 2013 Nov; N/D: N/D-N/D.

Quadri M, Fang M, Picillo M, Olgiati S, Breedveld Gj Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappata S, Quarantelli M, Annesi G, Quattrone A, Chien Hf Barbosa ER, International Parkinsonism Genetics Network Oostra Ba Barone P, Wang J, Bonifati V

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2013 Sep; 34(9): 1208-1215.

Cammisa M, Correra A, Andreotti G, Cubellis MV

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
Orphanet Journal Of Rare Diseases (ISSN: 1750-1172), 2013 Jul 24; 8: 111-111.

McNeill A, Wu RM, Tzen KY, Aguiar PC, Arbelo JM, Barone P, Bhatia K, Barsottini O, Bonifati V, Bostantjopoulou S, Bressan R, Cossu G, Cortelli P, Felicio A, Ferraz HB, Herrera J, Houlden H, Hoexter M, Isla C, Lees A, Lorenzo-Betancor O, Mencacci NE, Pastor P, Pappata S, Pellecchia MT, Silveria-Moriyama L, Varrone A, Foltynie T, Schapira AH

Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis
Plosone (ISSN: 1932-6203, 1932-6203electronic), 2013 Jul 23; 8(7): e69190-e69190.

De Simonea A, Stanzione F, Marasco D, Vitagliano L, Esposito L

The Intrinsic Stability Of The Human Prion Beta-Sheet Region Investigated By Molecular Dynamics
Journal Of Biomolecular Structure & Dynamics, 2013 May 1; 31(5): 441-452.

Andreotti G, Pedone E, Giordano A, Cubellis MV

Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation
Molecular Genetics & Genomic Medicine (ISSN: 2324-9269), 2013 May; 1(1): 32-44.

Carotenuto M, Pedone E, Diana D, de Antonellis P, Džeroski S, Marino N, Navas L, Di Dato V, Scoppettuolo MN, Cimmino F, Correale S, Pirone L, Monti SM, Bruder E, Zenko B, Slavkov I, Pastorino F, Ponzoni M, Schulte JH, Schramm A, Eggert A, Westermann F, Arrigoni G, Accordi B, Basso G, Saviano M, Fattorusso R, Zollo M

Neuroblastoma tumorigenesis is regulated through the Nm23-H1/h-Prune C-terminal interaction
Sci Rep (ISSN: 2045-2322, 2045-2322electronic, 2045-2322linking), 2013 Mar 1; 3: 1351-1351.

La Mendola D, Magrì A, Santoro AM, Nicoletti VG, Rizzarelli E

Copper(II) interaction with peptide fragments of histidine-proline-rich glycoprotein: Speciation, stability and binding details
J Chem Res (ISSN: 1873-3344, 0162-0134, 0162-0134print), 2012 Jun; 111: 59-69.

Merlino A, Picone D, Ercole C, Balsamo A, Sica F

Chain termini cross-talk in the swapping process of bovine pancreatic ribonuclease
Biochimie (ISSN: 0300-9084, 1638-6183, 1638-6183electronic), 2012 May; 94(5): 1108-1118.

Galdiero S, Russo L, Falanga A, Cantisani M, Vitiello M, Fattorusso R, Malgieri G, Galdiero M, Isernia C

Structure and Orientation of the gH625-644 Membrane Interacting Region of Herpes Simplex Virus Type 1 in a Membrane Mimetic System
Biochemistry (ISSN: 0006-2960, 1520-4995, 1520-4995electronic), 2012 Apr 10; 51(14): 3121-3128.

D'Agata R, Spoto G

Artificial DNA and surface plasmon resonance
Artificial Dna Pna & Xna (ISSN: 1949-095x), 2012 Apr; 3(2): N/D-N/D.

Zannetti A, Iommelli F, Speranza A, Salvatore M, Del Vecchio S

3'-deoxy-3'-18F-fluorothymidine (FLT) PET/CT to guide therapy with epidermal growth factor receptor (EGFR) antagonists and Bcl-xL inhibitors in non-small cell lung cancer
J Nucl Med (ISSN: 0161-5505, 1535-5667, 1535-5667electronic), 2012 Mar 1; 53(3): 443-450.

Zannetti A, Iommelli F, Speranza A, Salvatore M, Del Vecchio S

3'-deoxy-3'-18F-fluorothymidine PET/CT to guide therapy with epidermal growth factor receptor antagonists and Bcl-xL inhibitors in non-small cell lung cancer
J Nucl Med (ISSN: 1535-5667, 0161-5505, 1535-5667electronic), 2012 Mar 1; 53(3): 443-450.

Squeglia F, Marchetti R, Ruggiero A, Lanzetta R, Marasco D, Dworkin J, Petoukhov M, Molinaro A, Berisio R, Silipo A

Chemical basis of peptidoglycan discrimination by PrkC, a key kinase involved in bacterial resuscitation from dormancy
J Am Chem Soc (ISSN: 0002-7863, 0002-2786, 1520-5126), 2011 Dec 28; 133(51): 20676-20679.

De Rosa A, Rinaldi C, Tucci T, Pappata S, Rossi F, Morra VB, Faggiano A, Colao A, De Michele G

Co-existence of primary hyperparathyroidism and Parkinson's disease in three patients: An incidental finding?
Parkinsonism Relat Disord (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2011 Dec; 17(10): 771-773.

Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2011 Dec; 32(12): 1460-1469.

D'Agata R, Breveglieri G, Zanoli LM, Borgatti M, Spoto G, Gambari R

Direct Detection of Point Mutations in Nonamplified Human Genomic DNA
Analytical Chemistry (ISSN: 0003-2700), 2011 Nov 15; 83(22): 8711-8717.

Andreotti G, Citro V, De Crescenzo A, Orlando P, Cammisa M, Correra A, Cubellis MV

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests
Orphanet Journal Of Rare Diseases (ISSN: 1750-1172), 2011 Oct 17; 6: 66-66.

Palmieri G, Bergamo P, Luini A, Ruvo M, Gogliettino M, Langella E, Saviano M, Hegde RN, Sandomenico A, Rossi M

Acylpeptide Hydrolase Inhibition as Targeted Strategy to Induce Proteasomal Down-Regulation
Plosone (ISSN: 1932-6203, 1932-6203electronic), 2011 Oct 10; 6(10): N/D-N/D.

Janda E, Palmieri C, Pisano A, Pontoriero M, Iaccino E, Falcone C, Fiume G, Gaspari M, Nevolo M, Di Salle E, Rossi A, De Laurentiis A, Greco A, Di Napoli D, Verheij E, Britti D, Lavecchia L, Quinto I, Scala G

Btk regulation in human and mouse B cells via protein kinase C phosphorylation of IBtkγ
Blood (ISSN: 0006-4971, 0006-6497, 0390-6078), 2011 Jun 16; 117(24): 6520-6531.

Raimondi S, Guglielmi F, Giorgetti S, Di Gaetano S, Arciello A, Monti DM, Relini A, Nichino D, Doglia SM, Natalello A, Pucci P, Mangione P, Obici L, Merlini G, Stoppini M, Robustelli P, Tartaglia GG, Vendruscolo M, Dobson CM, Piccoli R, Bellotti V

Effects of the Known Pathogenic Mutations on the Aggregation Pathway of the Amyloidogenic Peptide of Apolipoprotein A-I
J Mol Biol (ISSN: 0022-2836, 1089-8638, 1089-8638electronic), 2011 Apr 1; 407(3): 465-476.

Kállay C, Turi I, Timári S, Nagy Z, Sanna D, Pappalardo G, De Bona P, Rizzarelli E, Sóvágó I

The effect of point mutations on copper(II) complexes with peptide fragments encompassing the 106-114 region of human prion protein
Monatshefte Fur Chemie (ISSN: 0026-9247), 2011 Apr; 142(4): 411-419.

Dinacci D, Tessitore A, Russo AA, De Bonis ML, Lavorgna L, Picconi O, Sacco R, Bonavita S, Gallo A, Servillo G, Marcuccio L, Comerci M, Galletti P, Alfano B, Tedeschi G

BDNF Val66Met polymorphism and brain volumes in multiple sclerosis
Neurol Sci (ISSN: 1590-1874, 1590-3478, 1590-1874linking), 2011 Feb; 32(1): 117-123.

Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6753electronic), 2011 Feb; 12(1): 33-39.

Andreotti G, Guarracino MR, Cammisa M, Correra A, Cubellis MV

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study
Orphanet Journal Of Rare Diseases (ISSN: 1750-1172), 2010 Dec 8; 5: 36-36.

Esposito G, Imperato MR, Ieno L, Sorvillo R, Benigno V, Parenti G, Parini R, Vitagliano L, Zagari A, Salvatore F

Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2010 Dec; 31(12): 1294-1303.

Amorosi S, Vigliano I, Del Giudice E, Panico L, Maruotti GM, Fusco A, Quarantelli M, Ciccone C, Ursini MV, Martinelli P, Pignata C

Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation
J Neurol Sci (ISSN: 0022-510x), 2010 Nov 15; 298(1-2): 121-123.

Limauro D, D'Ambrosio K, Langella E, De Simone G, Galdi I, Pedone C, Pedone E, Bartolucci S

Exploring the catalytic mechanism of the first dimeric Bcp: Functional, structural and docking analyses of Bcp4 from Sulfolobus solfataricus
Biochimie (ISSN: 1638-6183, 0300-9084, 1638-6183electronic), 2010 Oct; 92(10): 1435-1444.

Di Fiore A, Truppo E, Supuran CT, Alterio V, Dathan N, Bootorabi F, Parkkila S, Monti SM, De Simone G

Crystal structure of the C183S/C217S mutant of human CA VII in complex with acetazolamide
Bioorg Med Chem Lett (ISSN: 0960-894x), 2010 Sep 1; 20(17): 5023-5026.

Salvatore E, Di Maio L, Filla A, Ferrara AM, Rinaldi C, Sacca F, Peluso S, Macchia PE, Pappata S, De Michele G

Benign hereditary chorea: Clinical and neuroimaging features in an Italian family
Mov Disord (ISSN: 0885-3185, 1531-8257), 2010 Jul 30; 25(10): 1491-1496.

Alfieri A, Pasanisi F, Salzano S, Esposito L, Martone D, Tafuri D, Daniele A, Contaldo F, Sacchetti L, Zagari A, Buono P

Functional analysis of melanocortin-4-receptor mutants identified in severely obese subjects living in Southern Italy
Gene (ISSN: 0378-1119), 2010 Jun 1; 457(1-2): 35-41.

Pensato S, Renda M, Leccia F, Saviano M, D'Andrea LD, Pedone C, Pedone PV, Romanelli A

PNA zipper as a dimerization tool: development of a bZip mimic
Biopolymers (ISSN: 0006-3525, 0006-6352, 0006-3525print), 2010 May; 93(5): 434-441.

Bruni AC, Bernardi L, Colao R, Rubino E, Smirne N, Frangipane F, Terni B, Curcio SA, Mirabelli M, Clodomiro A, Di Lorenzo R, Maletta R, Anfossi M, Gallo M, Geracitano S, Tomaino C, Muraca MG, Leotta A, Lio SG, Pinessi L, Rainero I, Sorbi S, Nee L, Milan G, Pappata S, Postiglione A, Abbamondi N, Forloni G, St George Hyslop P, Rogaeva E, Bugiani O, Giaccone G, Foncin JF, Spillantini MG, Puccio G

Worldwide distribution of PSEN1 Met146Leu mutation: A large variability for a founder mutation
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2010 Mar 9; 74(10): 798-806.

De Leva MF, Filla A, Criscuolo C, Tessa A, Pappata S, Quarantelli M, Bilo L, Peluso S, Antenora A, Longo DL, Santorelli FM, De Michele G

Complex phenotype in an Italian family with a novel mutation in SPG3A
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2010 Mar; 257(3): 328-331.

Capaccio D, Ciccodicola A, Sabatino L, Casamassimi A, Pancione M, Fucci A, Febbraro, Merlino A, Graziano G, Colantuoni V

A novel germline mutation in Peroxisome Proliferator-Activated Receptor γ gene associated with large intestine polyp formation and dyslipidemia
Biochim Biophys Acta (ISSN: 0925-4439, 0006-3002, 1570-9639), 2010; 1802(6): 572-581.

D'Antò V, Michelotti A, Esposito L, Zagari A, Liguori R, Sacchetti L

Nonsynonimous mutation of catechol-O-methyl-transferase (COMT) gene in a patient with temporomandibular disorder
J Sci Med Sport (ISSN: 1440-2440), 2010; 13(6): 174-179.

D'Agata R, Breveglieri G, Zanoli L, Borgatti M, Spoto G, Gambari R

Surface Plasmon Resonance Imaging (SPR-I), peptide nucleic acid (PNA) probes and nanoparticle-enhancement for PCR-free ultrasensitive detection of beta-thalassemia mutations in human genomic DNA
International Journal Of Molecular Medicine (ISSN: 1107-3756), 2010; 26: N/D-N/D.

Milardi D, Pappalardo M, Grasso DM, La Rosa C

Unveiling the unfolding pathway of FALS associated G37R SOD1 mutant: A computational study
Mol Biosyst (ISSN: 1742-206x), 2010; 6(6): 1032-1039.

Merlino A, Russo Krauss I, Perillo M, Mattia CA, Ercole C, Picone D, Vergara A, Sica F

Toward an Antitumor Form of Bovine Pancreatic Ribonuclease: The Crystal Structure of Three Noncovalent Dimeric Mutants
Biopolymers (ISSN: 0006-3525, 0006-6352, 0006-3525print), 2009 Dec; 91(12): 1029-1037.

Damante CA, Osz K, Nagy Z, Pappalardo G, Grasso G, Impellizzeri G, Rizzarelli E, Sóvágó I

Metal Loading Capacity Of Abeta N-Terminus: A Combined Potentiometric And Spectroscopic Study Of Zinc (ii) Complexes With Abeta (1-16), Its Short Or Mutated Peptide Fragments And Its Polyethylene Glycol-Ylated Analogue
Inorg Chem (ISSN: 0020-1669, 1520-510x, 1520-510xelectronic), 2009 Nov 2; 48(21): 10405-10415.

Palladino P, Ronga L, Benedetti E, Rossi F, Ragone R

Peptide Fragment Approach to Prion Misfolding: The Alpha-2 Domain
Int J Pept Res Ther (ISSN: 1573-3149, 0929-5666), 2009 Sep; 15(3): 165-176.

Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, De Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappata S, De Michele G

Two novel CYP7B1 mutations in Italian families with SPG5: A clinical and genetic study
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2009 Sep; 256(8): 1252-1257.

Ruggiero I, Cantiello P, Lamberti A, Sorrentino A, Martucci NM, Ruggiero A, Arcone R, Vitagliano L, Arcari P, Masullo M

Biochemical Characterisation Of The D60a Mutant Of The Elongation Factor 1 Alpha From The Archaeon Sulfolobus Solfataricus
Biochimie (ISSN: 0300-9084, 1638-6183, 1638-6183electronic), 2009 Jul; 91(7): 835-842.

Ierano C, Giuliano P, D'Alterio C, Cioffi M, Mettivier V, Portella L, Napolitano M, Barbieri A, Arra C, Liguori G, Franco R, Palmieri G, Rozzo C, Pacelli R, Castello G, Scala S

A point mutation (G574A) in the chemokine receptor CXCR4 detected in human cancer cells enhances migration
Cell Cycle (ISSN: 1538-4101), 2009 Apr 15; 8(8): 1228-1237.

Daniele A, Scala I, Cardillo G, Pennino C, Ungaro C, Sibilio M, Parenti G, Esposito L, Zagari A, Andria G, Salvatore F

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy
Febs Journal (ISSN: 1742-464x), 2009 Apr; 276(7): 2048-2059.

De Rosa A, Criscuolo C, Mancini P, De Martino M, Giordano IA, Pappata S, Filla A, De Michele G

Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy
Parkinsonism Relat Disord (ISSN: 1353-8020print, 1353-8020linking, 1873-5126electronic), 2009 Mar; 15(3): 242-244.

Francalanci F, Avolio M, De Luca E, Longo DL, Menchise V, Guazzi P, Sgro F, Marino M, Goitre L, Balzac F, Trabalzini L, Retta SF

Structural and functional differences between KRIT1A and KRIT1B isoforms: A framework for understanding CCM pathogenesis
Exp Cell Res (ISSN: 0014-4827), 2009 Jan 15; 315(2): 285-303.

Palmieri G, Catara G, Saviano M, Langella E, Gogliettino M, Rossi M

First archaeal PEPB-serine protease inhibitor from sulfolobus solfataricus with noncanonical amino acid sequence in the reactive-site loop
J Proteome Res (ISSN: 1535-3893), 2009 Jan; 8(1): 327-334.

Calabrese V, Cornelius C, Mancuso C, Pennisi G, Calafato S, Bellia F, Bates TE, Giuffrida Stella AM, Schapira T, Dinkova Kostova AT, Rizzarelli E

Cellular stress response: a novel target for chemoprevention and nutritional neuroprotection in aging, neurodegenerative disorders and longevity
Neurochemical Research (ISSN: 1573-6903, 0364-3190), 2008 Dec; 33(12): 2444-2471.

Cigliano L, D'Andrea LD, Maresca B, Serino M, Carlucci A, Salvatore A, Spagnuolo MS, Scigliuolo G, Pedone C, Abrescia P

Relevance of the amino acid conversions L144R (Zaragoza) and L159P (Zavalla) in the apolipoprotein A-I binding site for haptoglobin
Biol Chem Biological Chemistry (ISSN: 1431-6730, 1437-4315), 2008 Nov; 389(11): 1421-1426.

Galdiero S, Falanga A, Vitiello M, Raiola L, Fattorusso R, Browne H, Pedone C, Isernia C, Galdiero M

Analysis of a membrane interacting region of herpes simplex virus type 1 glycoprotein
J Biol Chem Journal Of Biological Chemistry (ISSN: 0021-9258, 1083-351x), 2008 Oct 31; 283(44): 29993-30009.

Damante CA, Ösz K, Nagy Z, Pappalardo G, Grasso G, Impellizzeri G, Rizzarelli E, Sóvágó I

The Metal Loading Ability Of Beta-Amyloid N-Terminus: A Combined Potentiometric And Spectroscopic Study Of Copper (ii) Complexes With Beta-Amyloid (1-16), Its Short Or Mutated Peptide Fragments, And Its Polyethylene Glycol (peg)-Ylated Analogue
Inorg Chem (ISSN: 0020-1669, 1520-510x, 1520-510xelectronic), 2008 Oct 20; 47(20): 9669-9683.

D'Agata R, Corradini R, Grasso G, Marchelli R, Spoto G

Ultrasensitive detection of DNA by PNA and nanoparticle-enhanced surface plasmon resonance imaging
Chembiochem (ISSN: 1439-4227, 1439-7633, 1439-7633electronic), 2008 Sep 1; 9(13): 2067-2070.

Vettor R, Granzotto M, De Stefani D, Trevellin E, Rossato M, Farina MG, Milan G, Pilon C, Nigro A, Federspil G, Vigneri R, Vitiello L, Rizzuto R, Baratta R, Frittitta L

Loss-of-function mutation of the GPR40 gene associates with abnormal stimulated insulin secretion by acting on intracellular calcium mobilization
Journal Of Clinical Endocrinology & Metabolism (ISSN: 0021-972x), 2008 Sep; 93(9): 3541-3550.

Daniele A, Cardillo G, Pennino C, Carbone MT, Scognamiglio D, Esposito L, Correra A, Castaldo G, Zagari A, Salvatore F

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants
Biochim Biophys Acta (ISSN: 0925-4439, 0006-3002, 1570-9639), 2008 Jun; 1782(6): 378-384.

Mandrich L, Menchise V, Alterio V, De Simone G, Pedone C, Rossi M, Manco G

Functional and structural features of the oxyanion hole in a thermophilic esterase from Alicyclobacillus acidocaldarius
Proteins (ISSN: 0887-3585, 1097-0134, 1097-0134electronic), 2008 Jun; 71(4): 1721-1731.

Ruggiero A, Chambery A, Di Maro A, Parente A, Berisio R

Atomic Resolution (1. 1 Angstrom) Structure Of The Ribosome-Inactivating Protein Pd-L4 From Phytolacca Dioica L. Leaves
Proteins (ISSN: 0887-3585, 1097-0134, 1097-0134electronic), 2008 Apr; 71(1): 8-15.

De Simone A, Pedone C, Vitagliano L

Structure, dynamics, and stability of assemblies of the human prion fragment SNQNNF
Biochem Biophys Res Commun (ISSN: 1090-2104, 0006-291x, 1090-2104electronic), 2008 Feb 15; 366(3): 800-806.

Merlino A, Ercole C, Picone D, Pizzo E, Mazzarella L, Sica F

The buried diversity of bovine seminal ribonuclease: Shape and cytotoxicity of the swapped non-covalent form of the enzyme
J Mol Biol (ISSN: 0022-2836, 1089-8638, 1089-8638electronic), 2008 Feb 15; 376(2): 427-437.

Frasca F, Nucera C, Pellegriti G, Gangemi P, Attard M, Stella M, Loda M, Vella V, Giordano C, Trimarchi F, Mazzoni E, Belfiore A, Vigneri R

BRAF(V600E) mutation and the biology of papillary thyroid cancer
Endocr Relat Cancerendocrine Related Cancer (ISSN: 1351-0088), 2008; 15(1): 191-205.

Copani A, Guccione S, Giurato L, Caraci F, Calafiore M, Sortino MA

The cell cycle molecules behind neurodegeneration in Alzheimer's disease: Perspectives for drug development
Curr Med Chem (ISSN: 0929-8673, 1875-533x, 1875-533xelectronic), 2008; 15(24): 2420-2432.

De Rosa A, Carducci C, Antonozzi I, Giovanniello T, Xhoxhi E, Criscuolo C, Menchise V, Striano S, Filla A, De Michele G

A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia [9]
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2007 Sep; 254(8): 1133-1134.

Pastore C, Franzese M, Sica F, Temussi P, Pastore A

Understanding the binding properties of an unusual metal-binding protein - a study of bacterial frataxin
Febs Journal (ISSN: 1742-464x), 2007 Sep; 274(16): 4199-4210.

Pellecchia MT, Varrone A, Annesi G, Amboni M, Cicarelli G, Sansone V, Annesi F, Rocca FE, Vitale C, Pappata S, Quattrone A, Barone P

Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: An FP-CIT SPECT study
Mov Disord (ISSN: 0885-3185, 1531-8257), 2007 Mar 15; 22(4): 559-563.

Pailot A, D'Ambrosio K, Corbier C, Talfournier F, Branlant G

Invariant Thr(244) is essential for the efficient acylation step of the non-phosphorylating glyceraldehyde-3-phosphate dehydrogenase from Streptococcus mutans
Biochem J (ISSN: 0264-6021, 1470-8728electronic, 0264-6021linking), 2006 Dec 15; 400: 521-530.

Calvanese L, Saporito A, Marasco D, D'Auria G, Minchiotti G, Pedone C, Paolillo L, Falcigno L, Ruvo M

Solution structure of mouse Cripto CFC domain and its inactive variant Trp107Ala
J Med Chem (ISSN: 0022-2623, 1520-4804, 0022-2623print), 2006 Nov 30; 49(24): 7054-7062.

Berisio R, Corti N, Pfister P, Yonath A, Böttger EC

23S rRNA 2058A→G alteration mediates ketolide resistance in combination with deletion in L22
Antimicrobial Agents And Chemotherapy (ISSN: 0066-4804, 1098-6596), 2006 Nov; 50(11): 3816-3823.

Marasco D, Saporito A, Ponticelli S, Chambery A, De Falco S, Pedone C, Minchiotti G, Ruvo M

Chemical synthesis of mouse Cripto CFC variants
Proteins (ISSN: 0887-3585, 1097-0134, 1097-0134electronic), 2006 Sep 15; 64(3): 779-788.

Galdiero S, Vitiello M, Amodeo P, D'Isanto M, Cantisani M, Pedone C, Galdiero M

Structural requirements for proinflammatory activity of porin P2 loop 7 from Haemophilus influenzae
Biochemistry (ISSN: 0006-2960, 1520-4995, 1520-4995electronic), 2006 Apr 11; 45(14): 4491-4501.

Pedone E, D'Ambrosio K, De Simone G, Rossi M, Pedone C, Bartolucci S

Insights on a new PDI-like family: Structural and functional analysis of a protein disulfide oxidoreductase from the bacterium Aquifex aeolicus
J Mol Biol (ISSN: 0022-2836, 1089-8638, 1089-8638electronic), 2006 Feb 10; 356(1): 155-164.

Barone V, De Rienzo F, Langella E, Menziani MC, Rega N, Sola M

A computational protocol to probe the role of solvation effects on the reduction potential of azurin mutants
Proteins (ISSN: 0887-3585, 1097-0134, 1097-0134electronic), 2006 Jan 1; 62(1): 262-269.

Foti D, Chiefari E, Fedele M, Iuliano R, Brunetti L, Paonessa F, Manfioletti G, Barbetti F, Brunetti A, Croce CM, Fusco A, Brunetti A

Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice
Nat Med (ISSN: 1078-8956, 0034-7264), 2005 Jul; 11(7): 765-773.

Merlino A, Mazzarella L, Carannante A, Di Fiore A, Di Donato A, Notomista E, Sica F

The importance of dynamic effects on the enzyme activity: X-ray structure and molecular dynamics of onconase mutants
J Biol Chem Journal Of Biological Chemistry (ISSN: 0021-9258, 1083-351x), 2005 May 6; 280(18): 17953-17960.

Criscuolo C, Mancini P, Menchise V, Sacca F, De Michele G, Banfi S, Filla A

Very late onset in ataxia oculomotor apraxia type I [1]
Ann Neurol (ISSN: 0364-5134), 2005 May; 57(5): 777-777.

Esposito G, Vitagliano L, Cevenini A, Amelio T, Zagari A, Salvatore F

Unraveling the structural and functional features of an aldolase A mutant involved in the hemolytic anemia and severe rhabdomyolysis reported in a child
Haematologica (ISSN: 0006-4971, 0006-6497, 0390-6078), 2005 Jan 15; 105(2): 905-906.

Varrone A, Pellecchia MT, Amboni M, Sansone V, Salvatore E, Ghezzi D, Garavaglia B, Brice A, Brunetti A, Bonavita V, De Michele G, Salvatore M, Pappata S, Barone P

Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2004 Dec 14; 63(11): 2097-2103.

Falcigno L, Oliva R, D'Auria G, Maletta M, Dettin M, Pasquato A, Di Bello C, Paolillo L

Structural investigation of the HIV-1 envelope glycoprotein gp160 cleavage site 3: Role of site-specific mutations
Chembiochem (ISSN: 1439-4227, 1439-7633, 1439-7633electronic), 2004 Dec 3; 5(12): 1653-1661.

Merlino A, Graziano G, Mazzarella L

Structural And Dynamic Effects Of Alpha-Helix Deletion In Sso7d: Implications For Protein Thermal Stability
Proteins (ISSN: 0887-3585, 1097-0134, 1097-0134electronic), 2004 Dec 1; 57(4): 692-701.

De Simone G, Menchise V, Alterio V, Mandrich L, Rossi M, Manco G, Pedone C

The crystal structure of an EST2 mutant unveils structural insights on the H group of the carboxylesterase/lipase family
J Mol Biol (ISSN: 0022-2836, 1089-8638, 1089-8638electronic), 2004 Oct 8; 343(1): 137-146.

Pedone E, Ren B, Ladenstein R, Rossi M, Bartolucci S

Functional properties of the protein disulfide oxidoreductase from the archaeon Pyrococcus furiosus - A member of a novel protein family related to protein disulfide-isomerase
Eur J Biochem (ISSN: 0014-2956, 0014-2956print), 2004 Sep; 271(16): 3437-3448.

Leone M, Di Lello P, Ohlenschläger O, Pedone E, Bartolucci S, Rossi M, Di Blasio B, Pedone C, Saviano M, Isernia C, Fattorusso R

Solution structure and backbone dynamics of the K18G/R82E Alicyclobacillus acidocaldarius thioredoxin mutant: A molecular analysis of its reduced thermal stability
Biochemistry (ISSN: 0006-2960, 1520-4995, 1520-4995electronic), 2004 May 25; 43(20): 6043-6058.

Esposito G, Vitagliano L, Costanzo P, Borrelli L, Barone R, Pavone L, Izzo P, Zagari A, Salvatore F

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function
Biochem J (ISSN: 0264-6021, 1470-8728electronic, 0264-6021linking), 2004 May 15; 380: 51-56.

De Simone G, Mandrich L, Menchise V, Giordano V, Febbraio F, Rossi M, Pedone C, Manco G

A substrate-induced switch in the reaction mechanism of a thermophilic esterase - Kinetic evidences and structural basis
J Biol Chem Journal Of Biological Chemistry (ISSN: 0021-9258, 1083-351x), 2004 Feb 20; 279(8): 6815-6823.

Falcigno L, Oliva R, D'Auria G, Maletta M, Vacatello M, Dettin M, Pasquato A, Di Bello C, Paolillo L

Structural study of the HIV-1 gp160 cleavage site by native and modified sequences: Role of site specific mutations
Peptide Revolution, 2004; N/D: N/D-N/D.

D'Andrea LD, Regan L

TPR proteins: the versatile helix
Trends Biochem Sci Trends In Biochemical Sciences (ISSN: 0968-0004), 2003 Dec; 28(12): 655-662.

Bartolucci S, De Simone G, Galdiero S, Improta R, Menchise V, Pedone C, Pedone E, Saviano M

An integrated structural and computational study of the thermostability of two thioredoxin mutants from Alicyclobacillus acidocaldarius
J Bacteriol Journal Of Bacteriology (ISSN: 0021-9193, 1098-5530), 2003 Jul; 185(14): 4285-4289.

Esposito L, Bruno I, Sica F, Raia CA, Giordano A, Rossi M, Mazzarella L, Zagari A

Structural study of a single-point mutant of Sulfolobus solfataricus alcohol dehydrogenase with enhanced activity
Febs Lett (ISSN: 0014-5793, 0014-5793print, 1873-3468electronic), 2003 Mar 27; 539(1-3): 14-18.

Pauciullo P, Giannino A, De Michele M, Gentile M, Liguori R, Argiriou A, Carlotto A, Faccenda F, Mancini M, Bond MG, De Simone V, Rubba P

Increased carotid artery intima-media thickness is associated with a novel mutation of low-density lipoprotein receptor independently of major cardiovascular risk factors
Metab Clin Exp (ISSN: 0026-0495, 1532-8600), 2003; 52(11): 1433-1438.

Dathan N, Zaccaro L, Esposito S, Isernia C, Omichinski JG, Riccio A, Pedone C, Di Blasio B, Fattorusso R, Pedone PV

The Arabidopsis SUPERMAN protein is able to specifically bind DNA through its single Cys(2)-His(2) zinc finger motif
Nucleic Acids Res (ISSN: 0305-1048, 1362-4962, 1362-4962electronic), 2002 Nov 15; 30(22): 4945-4951.

Esposito G, Vitagliano L, Santamaria R, Viola A, Zagari A, Salvatore F

Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance
Febs Lett (ISSN: 0014-5793, 0014-5793print, 1873-3468electronic), 2002 Nov 6; 531(2): 152-156.

Masullo M, Cantiello P, Paola B, Fiengo A, Vitagliano L, Zagari A, Arcari P

Valine114 Replacements In The Archaeal Elongation Factor 1a Enhanced Its Ability To Interact With Aminoacyl-Trna And Kirromycin
Biochemistry (ISSN: 0006-2960, 1520-4995, 1520-4995electronic), 2002; 41(49): 14482-14488.

Menchise V, Corbier C, Didierjean C, Saviano M, Benedetti E, Jacquot JP, Aubry A

Crystal structure of the wild-type and D30A mutant thioredoxin h of Chlamydomonas reinhardtii and implications for the catalytic mechanism
Biochem J (ISSN: 0264-6021, 1470-8728electronic, 0264-6021linking), 2001 Oct 1; 359(1): 65-75.

Molko N, Pappata S, Mangin JF, Poupon C, Vahedi K, Jobert A, LeBihan D, Bousser MG, Chabriat H

Diffusion tensor imaging study of subcortical gray matter in CADASIL
Stroke (ISSN: 0039-2499), 2001 Sep; 32(9): 2049-2054.

Berisio R, Viguera A, Serrano L, Wilmanns M

Atomic resolution structure of a mutant of the spectrin SH3 domain
Acta Crystallogr D Biol Crystallogr (ISSN: 0907-4449, 0907-4449linking), 2001 Feb; 57(2): 337-340.

Aime S, Dastrù W, Gobetto R, Viale A

An NMR study of H(μ-H)Os3(CO)11
Inorg Chem (ISSN: 0020-1669, 1520-510x, 1520-510xelectronic), 2000; 39(11): 2422-2425.