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P. Torreri · SciRah

Researcher profile · Semantic Scholar

P. Torreri

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P. Torreri — researcher profile on SciRah

h-index: 17
Works: 32
Citations: 958

Most-cited papers

Recommendations for Improving the Quality of Rare Disease Registries
Y. Kodra, J. Weinbach, M. Posada de la Paz, A. Coi +25 more
2018International Journal of Environmental Research and Public Health166 citations Open access
Semantic Scholar
A global benchmark study using affinity-based biosensors
R. Rich, Giuseppe A. Papalia, P. Flynn, Jamie Furneisen +147 more
2008Analytical Biochemistry101 citations Open access
Semantic Scholar
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
S. Martinelli, P. Torreri, M. Tinti, L. Stella +10 more
2008Human Molecular Genetics93 citations Open access
Semantic Scholar
Identification of key regions and genes important in the pathogenesis of sezary syndrome by combining genomic and expression microarrays.
E. Caprini, C. Cristofoletti, D. Arcelli, P. Fadda +14 more
2009Cancer Research75 citations Open access
Semantic Scholar
Biomolecular interactions by Surface Plasmon Resonance technology.
P. Torreri, M. Ceccarini, P. Macioce, T. Petrucci
2005Annali dell'Istituto Superiore di Sanità60 citations
Semantic Scholar
Specificity of ε and Non-ε Isoforms of Arabidopsis 14-3-3 Proteins Towards the H+-ATPase and Other Targets
Roberta Pallucca, S. Visconti, L. Camoni, G. Cesareni +4 more
2014PLoS ONE55 citations Open access
Semantic Scholar
Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis.
V. D'Agostino, A. Minoprio, P. Torreri, I. Marinoni +6 more
2010DNA Repair50 citations
Semantic Scholar
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers
S. Gainotti, P. Torreri, C. M. Wang, R. Reihs +17 more
2018European Journal of Human Genetics47 citations Open access
Semantic Scholar
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
M. Motta, S. Camerini, Massimo Tatti, Marialuisa Casella +4 more
2014Human Molecular Genetics33 citations
Semantic Scholar
Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in Noonan Syndrome
S. Martinelli, A. P. Nardozza, Silvia Delle Vigne, G. Sabetta +10 more
2012Journal of Biological Chemistry31 citations Open access
Semantic Scholar
β-Dystrobrevin interacts directly with kinesin heavy chain in brain
P. Macioce, G. Gambara, M. Bernassola, L. Gaddini +5 more
2003Journal of Cell Science31 citations Open access
Semantic Scholar
Understanding the role of the Q338H MUTYH variant in oxidative damage repair
E. Turco, I. Ventura, A. Minoprio, M. Russo +6 more
2013Nucleic Acids Research30 citations Open access
Semantic Scholar
The Interaction with HMG20a/b Proteins Suggests a Potential Role for β-Dystrobrevin in Neuronal Differentiation*
B. Artegiani, C. Labbaye, A. Sferra, M. T. Quaranta +5 more
2010Journal of Biological Chemistry30 citations Open access
Semantic Scholar
The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases
D. Taruscio, L. Vittozzi, A. Rocchetti, P. Torreri +1 more
2018International Journal of Environmental Research and Public Health23 citations Open access
Semantic Scholar
Association of dystrobrevin and regulatory subunit of protein kinase A: a new role for dystrobrevin as a scaffold for signaling proteins.
M. Ceccarini, M. Grasso, Caterina Veroni, G. Gambara +7 more
2007Journal of Molecular Biology23 citations
Semantic Scholar
Retinoblastoma-independent antiproliferative activity of novel intracellular antibodies against the E7 oncoprotein in HPV 16-positive cells
L. Accardi, M. G. Dona', A. Mileo, M. G. Paggi +9 more
2011BMC Cancer18 citations Open access
Semantic Scholar
The role of loop ZA and Pro371 in the function of yeast Gcn5p bromodomain revealed through molecular dynamics and experiment
F. Pizzitutti, A. Giansanti, P. Ballario, Prisca Ornaghi +3 more
2006Journal of Molecular Recognition18 citations
Semantic Scholar
Molecular basis of dystrobrevin interaction with kinesin heavy chain: structural determinants of their binding.
M. Ceccarini, P. Torreri, D. Lombardi, G. Macchia +2 more
2005Journal of Molecular Biology17 citations
Semantic Scholar
Concerted mutation of Phe residues belonging to the β‐dystroglycan ectodomain strongly inhibits the interaction with α‐dystroglycan in vitro
M. Bozzi, F. Sciandra, L. Ferri, P. Torreri +4 more
200614 citations Open access
Semantic Scholar
The Italian registry for patients with Prader–Willi syndrome
M. Salvatore, P. Torreri, G. Grugni, A. Rocchetti +30 more
2023Orphanet Journal of Rare Diseases13 citations Open access
Semantic Scholar
Prion Protein Paralog Doppel Protein Interacts with Alpha-2-Macroglobulin: A Plausible Mechanism for Doppel-Mediated Neurodegeneration
S. Benvegnù, D. Franciotta, Joshua W. Sussman, A. Bachi +5 more
2009PLoS ONE13 citations Open access
Semantic Scholar
The Italian National Centre for Rare Diseases: where research and public health translate into action.
D. Taruscio, L. Agresta, A. Amato, G. Bernardo +33 more
2014Blood transfusion = Trasfusione del sangue10 citations
Semantic Scholar
Phosphorylation on threonine 11 of β‐dystrobrevin alters its interaction with kinesin heavy chain
F. Fratini, G. Macchia, P. Torreri, A. Matteucci +5 more
2012The FEBS Journal5 citations Open access
Semantic Scholar
Molecular dynamics simulations of SHP-2 mutants causing Noonan Syndrome
G. Sabetta, G. Bocchinfuso, S. Martinelli, P. Torreri +3 more
20101 citations
Semantic Scholar
A coiled-coil interaction mediates the formation of a ternary complex between dystrophin, dystrobrevin and kinesin heavy chain: possible implications in the mechanisms of transport
M. Ceccarini, P. Torreri, M. Bernassola, G. Macchia +2 more
20061 citations
Semantic Scholar
Concerted mutation of Phe residues belonging to the beta-dystroglycan ectodomain strongly inhibits the interaction with alpha-dystroglycan in vitro.
M. Bozzi, F. Sciandra, L. Ferri, P. Torreri +4 more
2006The FEBS Journal1 citations
Semantic Scholar
The Italian project for surveillance prevention and health care planning of congenital anomalies including Zika virus
D. Taruscio, P. Salerno, Orietta Granata, Y. Kodra +7 more
2018European Journal of Medical Genetics0 citations
Semantic Scholar
Combined High Resolution Genomic and Expression Profiles Microarray Analysis in Sezary Syndrome.
E. Caprini, C. Cristofoletti, D. Arcelli, P. Fadda +13 more
20090 citations
Semantic Scholar
Correction: Prion Protein Paralog Doppel Protein Interacts with Alpha-2-Macroglobulin: A Plausible Mechanism for Doppel-Mediated Neurodegeneration
S. Benvegnù, D. Franciotta, Joshua W. Sussman, A. Bachi +5 more
2009PLoS ONE0 citations Open access
Semantic Scholar
Biochemical and Structural characterization of Noonan syndrome-causing mutations affecting SHP-2’s phoshotyrosyl-binding pockets.
S. Martinelli, P. Torreri, G. Bocchinfuso, L. Stella +8 more
20070 citations
Semantic Scholar
β-Dystrobrevin links to the neuronal protein kinase A signaling pathway by binding the PKA-RIα subunit
P. Macioce, M. Grasso, Caterina Veroni, G. Gambara +6 more
20060 citations
Semantic Scholar
Beta-dystrobrevin interacts directly with RI-alpha subunit of protein kinase A
It Istituto Superiore di Sanit, M. Grasso, G. Gambara, Caterina Veroni +6 more
20040 citations
Semantic Scholar

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