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Research Highlights

Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling

Calcagnì A, Kors L, Verschuren E, De Cegli R, Zampelli N, Nusco E, Confalonieri S, Bertalot G, Pece S, Settembre C, Malouf GG, Leemans JC, de Heer E, Salvatore M, Peters DJ, Di Fiore PP, Ballabio A

Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling.

Elife. 2016 Sep 26;5. pii: e17047. doi: 10.7554/eLife.17047

Brain Targeting in MPS-IIIA

Brain Targeting in MPS-IIIA

Sorrentino NC, Fraldi A.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:630-8.

Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL

Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL

De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli A, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, di Bernardo D, Devuyst O, Lowe M, Medina DL, Ballabio A, De Matteis MA

Nat Cell Biol. 2016 Jul 11. doi: 10.1038/ncb3386. [Epub ahead of print]

ITALIAN PRIME MINISTER MATTEO RENZI VISITS TIGEM

TIGEM hosted a press conference to divulgate the excellence of its Science. The Italian Prime Minister Matteo Renzi and other authorities (Regione Campania President Vincenzo de Luca, Naples Prefect Gerarda Pantalone, Telethon President Luca Cordero di Montezemolo and Telethon General Director Francesca Pasinelli) attended the conference and  gave their contribution to highlight Telethon and TIGEM leading role in the field of rare genetic disease biomedical research.

 

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In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis

Pagliarini R1, Castello R1, Napolitano F, Borzone R, Annunziata P, Mandrile G, De Marchi M, Brunetti-Pierri N2, di Bernardo D2.
Cell Reports Volume 15, Issue 10, p2292–2300, 7 June 2016
1Co-first authors
2Co-corresponding author

Brain Disorders Due to Lysosomal Dysfunction

Fraldi A, Klein AD, Medina DL, Settembre C
Brain Disorders Due to Lysosomal Dysfunction.
Annu Rev Neurosci 2016, 39:277–95

Rhodopsin targeted transcriptional silencing by DNA-binding

Botta S, Marrocco E, de Prisco N, Curion F, Renda M, Sofia M1, Lupo M, Carissimo A, Bacci ML, Gesualdo C, Rossi S, Simonelli F, Surace EM

Rhodopsin targeted transcriptional silencing by DNA-binding

Elife. 2016 Mar 14;5. pii: e12242.

Aged and Diseased Neurons Get Lost in Transport

Anna Tamburrino, Mickael Decressac
Aged and Diseased Neurons Get Lost in Transport
Trends Neurosci. 2016 Apr;39(4):199-201.

Andrea Ballabio, winner of the 2016 Louis-Jeantet Prize for Medicine, publishes a perspective article in EMM entitled "The awesome lysosome"

Andrea Ballabio pubblishes in EMBO Molecular Medicine a perspective article entitled:

"The awesome lysosome"

FGF signalling regulates bone growth through autophagy

Laura Cinque,  Alison Forrester,  Rosa Bartolomeo,  Maria Svelto,  Rossella Venditti,  Sandro Montefusco,  Elena Polishchuk,  Edoardo Nusco,  Antonio Rossi,  Diego L. Medina,  Roman Polishchuk,  Maria Antonietta De Matteis  & Carmine Settembre

FGF signalling regulates bone growth through autophagy

Nature (2015) doi:10.1038/nature16063


Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants.

Chesi G, Hegde RN, Iacobacci S, Concilli M, Parashuraman S, Festa BP, Polishchuk EV, Di Tullio G, Carissimo A, Montefusco S, Canetti D, Monti M, Amoresano A, Pucci P, van de Sluis B, Lutsenko S, Luini A, Polishchuk RS.

Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants.

Hepatology. 2015 Dec 13. doi: 10.1002/hep.28398. [Epub ahead of print]

Cyclosporin promotes neurorestoration and cell replacement therapy in pre-clinical models of Parkinson's disease.

Tamburrino A, Churchill MJ, Wan OW, Colino-Sanguino Y, Ippolito R, Bergstrand S, Wolf DA, Herz NJ, Sconce MD, Björklund A, Meshul CK, Decressac M (2015).

Cyclosporin promotes neurorestoration and cell replacement therapy in pre-clinical models of Parkinson's disease.

Acta Neuropathol Commun. 3(1):84.

A comprehensive map of CNS transduction by eight recombinant adeno-associated virus serotypes upon cerebrospinal fluid administration in pigs.

Sorrentino NC, Maffia V, Strollo S, Cacace V, Romagnoli N, Manfredi A, Ventrella D, Dondi F, Barone F, Giunti M, Graham AR, Huang Y, Kalled SL, Auricchio A, Bacci ML, Surace EM, Fraldi A.

A comprehensive map of CNS transduction by eight recombinant adeno-associated virus serotypes upon cerebrospinal fluid administration in pigs.

Mol Ther. 2015 Dec 7. doi: 10.1038/mt.2015.212. [Epub ahead of print]

Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1

R Castello, R Borzone, S d’Aria, P Annunziata, P Piccolo and N Brunetti-Pierri.

Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1

Gene Therapy 26 November 2015; doi: 10.1038/gt.2015.107

Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease.

Trapani I, Toriello E, de Simone S, Colella P, Iodice C, Polishchuk EV, Sommella A, Colecchi L, Rossi S, Simonelli F, Giunti M, Bacci ML, Polishchuk RS, Auricchio A.

Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease.

Hum Mol Genet. 2015 Dec 1;24(23):6811-25.



Progress toward improved therapies for inborn errors of metabolism

Ginocchio VM, Brunetti-Pierri N.

Progress toward improved therapies for inborn errors of metabolism

Hum Mol Genet. 2015 Oct 6.


MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Ivan Conte, Kristen D. Hadfield, Sara Barbato, Sabrina Carrella, Mariateresa Pizzo, Rajeshwari S. Bhat, Annamaria Carissimo, Marianthi Karali, Louise F. Porter, Jill Urquhart, Sofie Hateley, James O’Sullivan, Forbes D. C. Manson, Stephan C. F. Neuhauss, Sandro Banfi, and Graeme C. M. Black

PNAS 2015; published ahead of print June 8, 2015, doi:10.1073/pnas.1401464112

Gene Therapy of Inherited Retinal Degenerations: Prospects and Challenges

Gene Therapy of Inherited Retinal Degenerations: Prospects and Challenges

Ivana Trapani, Sandro Banfi, Francesca Simonelli, Enrico M. Surace, Alberto Auricchio

Human Gene Therapy. April 2015, 26(4): 193-200.

Gene Therapy for Inherited Diseases of Liver Metabolism

Gene Therapy for Inherited Diseases of Liver Metabolism

Pasquale Piccolo, Nicola Brunetti-Pierri

Human Gene Therapy. April 2015, 26(4): 186-192.

Fighting Rare Diseases: The Model of the Telethon Research Institutes in Italy

Fighting Rare Diseases: The Model of the Telethon Research Institutes in Italy

Andrea Ballabio, Luigi Naldini

Human Gene Therapy. April 2015, 26(4): 183-185.

Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB

Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB

Diego L. Medina, Simone Di Paola, Ivana Peluso, Andrea Armani, Diego De Stefani, Rossella Venditti, Sandro Montefusco, Anna Scotto-Rosato, Carolina Prezioso, Alison Forrester, Carmine Settembre, Wuyang Wang, Qiong Gao, Haoxing Xu, Marco Sandri, Rosario Rizzuto, Maria Antonietta De Matteis & Andrea Ballabio

Nature Cell Biology 17, 288–299 (2015) doi:10.1038/ncb3114

This article was selected to be highlighted in the Editors' Choice section of Science Signaling


TFEB and the CLEAR network.

TFEB and the CLEAR network.

Settembre C, Medina DL

Methods Cell Biol. 2015;126:45-62. doi: 10.1016/bs.mcb.2014.11.011.

Prevalence of anti-AAV8 neutralizing antibodies and ARSB cross-reactive immunologic material in MPS VI patients candidates for a gene therapy trial.

Prevalence of anti-AAV8 neutralizing antibodies and ARSB cross-reactive immunologic material in MPS VI patients candidates for a gene therapy trial.

Rita Ferla, Pamela Claudiani, Marco Savarese, Karen Kozarsky, Rossella Parini, Maurizio Scarpa, Maria Alice Donati, Giovanni Sorge, John J Hopwood, Giancarlo Parenti, Simona Fecarotta, Vincenzo Nigro, Hatice Serap Sivri, Ans Van Der Ploeg, Generoso Andria, Nicola Brunetti-Pierri and Alberto Auricchio

Human Gene Therapy, In press