Search | VHL Search Portal

1.

Role of trafficking protein particle complex 2 in medaka development.

Zappa, Francesca; Intartaglia, Daniela; Guarino, Andrea M; De Cegli, Rossella; Wilson, Cathal; Salierno, Francesco Giuseppe; Polishchuk, Elena; Sorrentino, Nicolina Cristina; Conte, Ivan; De Matteis, Maria Antonietta.

Traffic ; 25(1): e12924, 2024 01.

Article in English | MEDLINE | ID: mdl-37963679

2.

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.

Fraldi, Alessandro; Annunziata, Fabio; Lombardi, Alessia; Kaiser, Hermann-Josef; Luis Medina, Diego; Spampanato, Carmine; Olind Fedele, Anthony; Polishchuk, Roman; Sorrentino, Nicolina Cristina; Simons, Kai; Ballabio, Andrea.

EMBO J ; 41(23): e112402, 2022 12 01.

Article in English | MEDLINE | ID: mdl-36321514

3.

Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin.

Pastore, Nunzia; Annunziata, Francesco; Colonna, Rita; Maffia, Veronica; Giuliano, Teresa; Custode, Bruno Maria; Lombardi, Bernadette; Polishchuk, Elena; Cacace, Vincenzo; De Stefano, Lucia; Nusco, Edoardo; Sorrentino, Nicolina Cristina; Piccolo, Pasquale; Brunetti-Pierri, Nicola.

Mol Ther ; 31(9): 2651-2661, 2023 09 06.

Article in English | MEDLINE | ID: mdl-37394797

4.

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.

Sorrentino, Nicolina Cristina; Presa, Maximiliano; Attanasio, Sergio; Cacace, Vincenzo; Sofia, Martina; Zuberi, Aamir; Ryan, Jennifer; Ray, Somdatta; Petkovic, Igor; Radhakrishnan, Karthikeyan; Schlotawa, Lars; Ballabio, Andrea; Lutz, Cathleen; Brunetti-Pierri, Nicola.

J Inherit Metab Dis ; 46(2): 335-347, 2023 03.

Article in English | MEDLINE | ID: mdl-36433920

5.

Fluoxetine ameliorates mucopolysaccharidosis type IIIA.

Capuozzo, Antonella; Montefusco, Sandro; Cacace, Vincenzo; Sofia, Martina; Esposito, Alessandra; Napolitano, Gennaro; Nusco, Eduardo; Polishchuk, Elena; Pizzo, Maria Teresa; De Risi, Maria; De Leonibus, Elvira; Sorrentino, Nicolina Cristina; Medina, Diego Luis.

Mol Ther ; 30(4): 1432-1450, 2022 04 06.

Article in English | MEDLINE | ID: mdl-35121108

6.

The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease.

Monaco, Antonio; Maffia, Veronica; Sorrentino, Nicolina Cristina; Sambri, Irene; Ezhova, Yulia; Giuliano, Teresa; Cacace, Vincenzo; Nusco, Edoardo; De Risi, Maria; De Leonibus, Elvira; Schrader, Thomas; Klärner, Frank-Gerrit; Bitan, Gal; Fraldi, Alessandro.

Mol Ther ; 28(4): 1167-1176, 2020 04 08.

Article in English | MEDLINE | ID: mdl-32087148

7.

The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease.

Monaco, Antonio; Maffia, Veronica; Sorrentino, Nicolina Cristina; Sambri, Irene; Ezhova, Yulia; Giuliano, Teresa; Cacace, Vincenzo; Nusco, Edoardo; De Risi, Maria; De Leonibus, Elvira; Schrader, Thomas; Klärner, Frank-Gerrit; Bitan, Gal; Fraldi, Alessandro.

Mol Ther ; 30(11): 3499, 2022 Nov 02.

Article in English | MEDLINE | ID: mdl-36261045

8.

A Comprehensive Map of CNS Transduction by Eight Recombinant Adeno-associated Virus Serotypes Upon Cerebrospinal Fluid Administration in Pigs.

Sorrentino, Nicolina Cristina; Maffia, Veronica; Strollo, Sandra; Cacace, Vincenzo; Romagnoli, Noemi; Manfredi, Anna; Ventrella, Domenico; Dondi, Francesco; Barone, Francesca; Giunti, Massimo; Graham, Anne-Renee; Huang, Yan; Kalled, Susan L; Auricchio, Alberto; Bacci, Maria Laura; Surace, Enrico Maria; Fraldi, Alessandro.

Mol Ther ; 24(2): 276-286, 2016 Feb.

Article in English | MEDLINE | ID: mdl-26639405

9.

Brain Targeting in MPS-IIIA.

Sorrentino, Nicolina Cristina; Fraldi, Alessandro.

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

Article in English | MEDLINE | ID: mdl-27491210

10.

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.

Fraldi, Alessandro; Annunziata, Fabio; Lombardi, Alessia; Kaiser, Hermann-Josef; Medina, Diego Luis; Spampanato, Carmine; Fedele, Anthony Olind; Polishchuk, Roman; Sorrentino, Nicolina Cristina; Simons, Kai; Ballabio, Andrea.

EMBO J ; 29(21): 3607-20, 2010 Nov 03.

Article in English | MEDLINE | ID: mdl-20871593

11.

TFEB and TFE3 drive kidney cystogenesis and tumorigenesis.

Di Malta, Chiara; Zampelli, Angela; Granieri, Letizia; Vilardo, Claudia; De Cegli, Rossella; Cinque, Laura; Nusco, Edoardo; Pece, Salvatore; Tosoni, Daniela; Sanguedolce, Francesca; Sorrentino, Nicolina Cristina; Merino, Maria J; Nielsen, Deborah; Srinivasan, Ramaprasad; Ball, Mark W; Ricketts, Christopher J; Vocke, Cathy D; Lang, Martin; Karim, Baktiar; Lanfrancone, Luisa; Schmidt, Laura S; Linehan, W Marston; Ballabio, Andrea.

EMBO Mol Med ; 15(5): e16877, 2023 05 08.

Article in English | MEDLINE | ID: mdl-36987696

12.

Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder.

Spampanato, Carmine; De Leonibus, Elvira; Dama, Paola; Gargiulo, Annagiusi; Fraldi, Alessandro; Sorrentino, Nicolina Cristina; Russo, Fabio; Nusco, Edoardo; Auricchio, Alberto; Surace, Enrico M; Ballabio, Andrea.

Mol Ther ; 19(5): 860-9, 2011 May.

Article in English | MEDLINE | ID: mdl-21326216

13.

Retinal Degeneration in MPS-IIIA Mouse Model.

Intartaglia, Daniela; Giamundo, Giuliana; Marrocco, Elena; Maffia, Veronica; Salierno, Francesco Giuseppe; Nusco, Edoardo; Fraldi, Alessandro; Conte, Ivan; Sorrentino, Nicolina Cristina.

Front Cell Dev Biol ; 8: 132, 2020.

Article in English | MEDLINE | ID: mdl-32195255

14.

Effects of non-euphoric plant cannabinoids on muscle quality and performance of dystrophic mdx mice.

Iannotti, Fabio Arturo; Pagano, Ester; Moriello, Aniello Schiano; Alvino, Filomena Grazia; Sorrentino, Nicolina Cristina; D'Orsi, Luca; Gazzerro, Elisabetta; Capasso, Raffaele; De Leonibus, Elvira; De Petrocellis, Luciano; Di Marzo, Vincenzo.

Br J Pharmacol ; 176(10): 1568-1584, 2019 05.

Article in English | MEDLINE | ID: mdl-30074247

15.

Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA.

Sorrentino, Nicolina Cristina; Cacace, Vincenzo; De Risi, Maria; Maffia, Veronica; Strollo, Sandra; Tedesco, Novella; Nusco, Edoardo; Romagnoli, Noemi; Ventrella, Domenico; Huang, Yan; Liu, Nan; Kalled, Susan L; Choi, Vivian W; De Leonibus, Elvira; Fraldi, Alessandro.

Mol Ther Methods Clin Dev ; 15: 333-342, 2019 Dec 13.

Article in English | MEDLINE | ID: mdl-31788497

16.

Gene therapy for mucopolysaccharidoses: in vivo and ex vivo approaches.

Fraldi, Alessandro; Serafini, Marta; Sorrentino, Nicolina Cristina; Gentner, Bernhard; Aiuti, Alessandro; Bernardo, Maria Ester.

Ital J Pediatr ; 44(Suppl 2): 130, 2018 Nov 16.

Article in English | MEDLINE | ID: mdl-30442177

17.

Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases.

Sambri, Irene; D'Alessio, Rosa; Ezhova, Yulia; Giuliano, Teresa; Sorrentino, Nicolina Cristina; Cacace, Vincenzo; De Risi, Maria; Cataldi, Mauro; Annunziato, Lucio; De Leonibus, Elvira; Fraldi, Alessandro.

EMBO Mol Med ; 9(1): 112-132, 2017 01.

Article in English | MEDLINE | ID: mdl-27881461

18.

Transdermal spinal catheter placement in piglets: Description and validation of the technique.

Lambertini, Carlotta; Ventrella, Domenico; Barone, Francesca; Sorrentino, Nicolina Cristina; Dondi, Francesco; Fraldi, Alessandro; Giunti, Massimo; Surace, Enrico Maria; Bacci, Maria Laura; Romagnoli, Noemi.

J Neurosci Methods ; 255: 17-21, 2015 Nov 30.

Article in English | MEDLINE | ID: mdl-26238729

19.

A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.

Sorrentino, Nicolina Cristina; D'Orsi, Luca; Sambri, Irene; Nusco, Edoardo; Monaco, Ciro; Spampanato, Carmine; Polishchuk, Elena; Saccone, Paola; De Leonibus, Elvira; Ballabio, Andrea; Fraldi, Alessandro.

EMBO Mol Med ; 5(5): 675-90, 2013 May.

Article in English | MEDLINE | ID: mdl-23568409

20.

Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments.

Vitiello, Carmen; Faraso, Stefania; Sorrentino, Nicolina Cristina; Di Salvo, Giovanni; Nusco, Edoardo; Nigro, Gerardo; Cutillo, Luisa; Calabrò, Raffaele; Auricchio, Alberto; Nigro, Vincenzo.

PLoS One ; 4(3): e5051, 2009.

Article in English | MEDLINE | ID: mdl-19333401

VHL Search Portal

Information and Knowledge for Health

Config filters

Your selection (0)

Export format:

Export:

Role of trafficking protein particle complex 2 in medaka development.

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.

Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin.

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.

Fluoxetine ameliorates mucopolysaccharidosis type IIIA.

The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease.

The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease.

A Comprehensive Map of CNS Transduction by Eight Recombinant Adeno-associated Virus Serotypes Upon Cerebrospinal Fluid Administration in Pigs.

Brain Targeting in MPS-IIIA.

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.

TFEB and TFE3 drive kidney cystogenesis and tumorigenesis.

Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder.

Retinal Degeneration in MPS-IIIA Mouse Model.

Effects of non-euphoric plant cannabinoids on muscle quality and performance of dystrophic mdx mice.

Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA.

Gene therapy for mucopolysaccharidoses: in vivo and ex vivo approaches.

Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases.

Transdermal spinal catheter placement in piglets: Description and validation of the technique.

A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.

Disease rescue and increased lifespan in a model of cardiomyopathy and muscular dystrophy by combined AAV treatments.