Consorzio Interuniversitario per lo sviluppo dei Sistemi a Grande Interfase
Center for Colloid and Surface Science

PUBLICATIONS

Here you can find the updated list of all the publications of CSGI members and affilated staff. Please note that the only publications listed here are those published after the affilation of each member. If you are interested in the whole bibliography of CSGI members, including articles and books published before affilation to CSGI, please refer to academic research databases, such as Scopus, Web Of Science, Google Scholar, ect.

You can use the search bar below to filter the publication list.

2024

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

- Carpentieri G. - Cecchetti S. - Gianfranco Bocchinfuso - Radio F.C. - Leoni C. - Onesimo R. - Calligari P. - Pietrantoni A. - Ciolfi A. - Ferilli M. - Calderan C. - Cappuccio G. - Martinelli S. - Messina E. - Caputo V. - Hüffmeier U. - Mignot C. - Auvin S. - Capri Y. - Lourenco C.M. - Russell B.E. - Neustad A. - Brunetti Pierri N. - Keren B. - Reis A. - Cohen J.S. - Heidlebaugh A. - Smith C. - Thiel C.T. - Salviati L. - Zampino G. - Campeau P.M. - Lorenzo Stella - Tartaglia M. - Flex E.
HGG advances

Fluorescent Labeling Can Significantly Perturb Measured Binding Affinity and Selectivity of Peptide-Protein Interactions

- Sara Bobone - Storti C. - Fulci C. - Damiani A. - Innamorati C. - Roversi D. - Calligari P. - Pannone L. - Martinelli S. - Tartaglia M. - Gianfranco Bocchinfuso - Formaggio F. - Peggion C. - Biondi B. - Lorenzo Stella
The journal of physical chemistry letters

2023

Isoamphipathic antibacterial molecules regulating activity and toxicity through positional isomerism

- Barman S. - Mukherjee S. - Jolly L. - Cassandra Troiano - Grottesi A. - Basak D. - Calligari P. - Bhattacharjee B. - Gianfranco Bocchinfuso - Lorenzo Stella - Haldar J.
Chemical Science

Mechanism of lipid bilayer perturbation by bactericidal membrane-active small molecules

- Bortolotti A. - Cassandra Troiano - Sara Bobone - Konai M.M. - Ghosh C. - Gianfranco Bocchinfuso - Acharya Y. - Santucci V. - Bonacorsi S. - Di Stefano C. - Haldar J. - Lorenzo Stella
Biochimica et Biophysica Acta - Biomembranes

2022

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia

- Di Rocco M. - Galosi S. - Lanza E. - Tosato F. - Caprini D. - Folli V. - Friedman J. - Gianfranco Bocchinfuso - Martire A. - Di Schiavi E. - Leuzzi V. - Martinelli S.
Human Molecular Genetics

2021

Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions

- Sara Bobone - Pannone L. - Biondi B. - Solman M. - Flex E. - Canale V.C. - Calligari P. - De Faveri C. - Gandini T. - Quercioli A. - Torini G. - Venditti M. - Lauri A. - Fasano G. - Hoeksma J. - Santucci V. - Cattani G. - Bocedi A. - Carpentieri G. - Tirelli V. - Sanchez M. - Peggion C. - Formaggio F. - Den Hertog J. - Martinelli S. - Gianfranco Bocchinfuso - Tartaglia M. - Lorenzo Stella
Journal of Medicinal Chemistry

Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders

- Lorca R. - Pannone L. - Cuesta-Llavona E. - Gianfranco Bocchinfuso - Rodríguez-Reguero J. - Carpentieri G. - Hernando I. - Flex E. - Tartaglia M. - Coto E. - Gómez J. - Martinelli S.
Clinical Genetics

2020

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism

- Martinelli S. - Cordeddu V. - Galosi S. - Lanzo A. - Palma E. - Pannone L. - Ciolfi A. - Di Nottia M. - Rizza T. - Gianfranco Bocchinfuso - Traversa A. - Caputo V. - Farrotti A. - Carducci C. - Bernardini L. - Cogo S. - Paglione M. - Venditti M. - Bentivoglio A. - Ng J. - Kurian M.A. - Civiero L. - Greggio E. - Lorenzo Stella - Trettel F. - Sciaccaluga M. - Roseti C. - Carrozzo R. - Fucile S. - Limatola C. - Di Schiavi E. - Tartaglia M. - Leuzzi V.
Parkinsonism and Related Disorders

Pathogenic PTPN11 variants involving the poly-glutamine Gln255-Gln256-Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation

- Martinelli S. - Pannone L. - Lissewski C. - Brinkmann J. - Flex E. - Schanze D. - Calligari P. - Anselmi M. - Pantaleoni F. - Canale V.C. - Radio F.C. - Ioannides A. - Rahner N. - Schanze I. - Josifova D. - Gianfranco Bocchinfuso - Ryten M. - Lorenzo Stella - Tartaglia M. - Zenker M.
Human Mutation

Structural Determinants of Phosphopeptide Binding to the N-Terminal Src Homology 2 Domain of the SHP2 Phosphatase

- Anselmi M. - Calligari P. - Hub J.S. - Tartaglia M. - Gianfranco Bocchinfuso - Lorenzo Stella
Journal of Chemical Information and Modeling

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

- Motta M. - Pannone L. - Pantaleoni F. - Gianfranco Bocchinfuso - Radio F.C. - Cecchetti S. - Ciolfi A. - Di Rocco M. - Elting M.W. - Brilstra E.H. - Boni S. - Mazzanti L. - Tamburrino F. - Walsh L. - Payne K. - Fernández-Jaén A. - Ganapathi M. - Chung W.K. - Grange D.K. - Dave-Wala A. - Reshmi S.C. - Bartholomew D.W. - Mouhlas D. - Carpentieri G. - Bruselles A. - Pizzi S. - Bellacchio E. - Piceci-Sparascio F. - Lißewski C. - Brinkmann J. - Waclaw R.R. - Waisfisz Q. - van Gassen K. - Wentzensen I.M. - Morrow M.M. - Álvarez S. - Martínez-García M. - De Luca A. - Memo L. - Zampino G. - Rossi C. - Seri M. - Gelb B.D. - Zenker M. - Dallapiccola B. - Lorenzo Stella - Prada C.E. - Martinelli S. - Flex E. - Tartaglia M.
American Journal of Human Genetics

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl/H+-Exchanger, Causes Early-Onset Neurodegeneration

- Polovitskaya M.M. - Barbini C. - Martinelli D. - Harms F.L. - Cole F.S. - Calligari P. - Gianfranco Bocchinfuso - Lorenzo Stella - Ciolfi A. - Niceta M. - Rizza T. - Shinawi M. - Sisco K. - Johannsen J. - Denecke J. - Carrozzo R. - Wegner D.J. - Kutsche K. - Tartaglia M. - Jentsch T.J.
American Journal of Human Genetics

2019

Gold Nanoparticle Aggregates Functionalized with Cyclic RGD Peptides for Targeting and Imaging of Colorectal Cancer Cells

- Biscaglia F. - Ripani G. - Rajendran S. - Benna C. - Mocellin S. - Gianfranco Bocchinfuso - Meneghetti M. - Antonio Palleschi - Gobbo M.
ACS Applied Nano Materials

Rational design of antiangiogenic helical oligopeptides targeting the vascular endothelial growth factor receptors

- Zanella S. - Gianfranco Bocchinfuso - De Zotti M. - Arosio D. - Marino F. - Raniolo S. - Pignataro L. - Sacco G. - Antonio Palleschi - Siano A.S. - Piarulli U. - Belvisi L. - Formaggio F. - Gennari C. - Lorenzo Stella
Frontiers in Chemistry

2018

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome

- Stellacci E. - Steindl K. - Joset P. - Mercurio L. - Anselmi M. - Cecchetti S. - Gogoll L. - Zweier M. - Hackenberg A. - Gianfranco Bocchinfuso - Lorenzo Stella - Tartaglia M. - Rauch A.
Human Mutation

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

- Bauer C.K. - Calligari P. - Radio F.C. - Caputo V. - Dentici M.L. - Falah N. - High F. - Pantaleoni F. - Barresi S. - Ciolfi A. - Pizzi S. - Bruselles A. - Person R. - Richards S. - Cho M.T. - Claps Sepulveda D.J. - Pro S. - Battini R. - Zampino G. - Digilio M.C. - Gianfranco Bocchinfuso - Dallapiccola B. - Lorenzo Stella - Tartaglia M.
American Journal of Human Genetics

2017

The influence of ph on the scleroglucan and scleroglucan/borax systems

- Claudia Mazzuca - Gianfranco Bocchinfuso - Antonio Palleschi - Conflitti P. - Grassi M. - Di Meo C. - Alhaique F. - Coviello T.
Molecules

Enhanced EGFR targeting activity of plasmonic nanostructures with engineered GE11 peptide

- Biscaglia F. - Rajendran S. - Conflitti P. - Benna C. - Sommaggio R. - Litti L. - Mocellin S. - Gianfranco Bocchinfuso - Rosato A. - Antonio Palleschi - Nitti D. - Gobbo M. - Meneghetti M.
Advanced Healthcare Materials

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

- Pannone L. - Gianfranco Bocchinfuso - Flex E. - Rossi C. - Baldassarre G. - Lissewski C. - Pantaleoni F. - Consoli F. - Lepri F. - Magliozzi M. - Anselmi M. - Delle Vigne S. - Sorge G. - Karaer K. - Cuturilo G. - Sartorio A. - Tinschert S. - Accadia M. - Digilio M.C. - Zampino G. - De Luca A. - Cavé H. - Zenker M. - Gelb B.D. - Dallapiccola B. - Lorenzo Stella - Ferrero G.B. - Martinelli S. - Tartaglia M.
Human Mutation

2016

Carnitine palmitoyl transferase-1A (CPT1A): A new tumor specific target in human breast cancer

- Pucci S. - Zonetti M. - Fisco T. - Polidoro C. - Gianfranco Bocchinfuso - Antonio Palleschi - Novelli G. - Spagnoli L. - Mazzarelli P.
Oncotarget

2015

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

- Cordeddu V. - Yin J.C. - Gunnarsson C. - Virtanen C. - Drunat S. - Lepri F. - De Luca A. - Rossi C. - Ciolfi A. - Pugh T.J. - Bruselles A. - Priest J.R. - Pennacchio L.A. - Lu Z. - Danesh A. - Quevedo R. - Hamid A. - Martinelli S. - Pantaleoni F. - Gnazzo M. - Daniele P. - Lissewski C. - Gianfranco Bocchinfuso - Lorenzo Stella - Odent S. - Philip N. - Faivre L. - Vlckova M. - Seemanova E. - Digilio C. - Zenker M. - Zampino G. - Verloes A. - Dallapiccola B. - Roberts A.E. - Cavé H. - Gelb B.D. - Neel B.G. - Tartaglia M.
Human Mutation

2008