Jlenia Monfregola

Affiliations

Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.

Publications (11)

TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathway.

Nature communications

Avec: A Scotto Rosato , S Montefusco , C Soldati , S Di Paola , A Capuozzo , J Monfregola , E Polishchuk , A Amabile , C Grimm , A Lombardo , M A De Matteis , A Ballabio , D L Medina

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.

EMBO molecular medicine

Avec: Chiara Soldati , Irene Lopez-Fabuel , Luca G Wanderlingh , Marina Garcia-Macia , Alessandra Esposito , Gennaro Napolitano , Marta Guevara-Ferrer , Anna Scotto Rosato , Einar K Krogsaeter , Dominik Paquet , Christian M Grimm , Sandro Montefusco , Thomas Braulke , Stephan Storch , Sara E Mole , Maria A De Matteis , Andrea Ballabio , Julio L Sampaio , Tristan McKay , Ludger Johannes , Juan P Bolaños , Diego L Medina

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.

EMBO molecular medicine

Avec: Lars Schlotawa , Karolina Tyka , Matthias Kettwig , Rebecca C Ahrens-Nicklas , Matthias Baud , Tea Berulava , Nicola Brunetti-Pierri , Alyssa Gagne , Zackary M Herbst , Jean A Maguire , Tonatiuh Pena , Karthikeyan Radhakrishnan , Sophie Schröder , Elisa A Waxman , Andrea Ballabio , Thomas Dierks , André Fischer , Deborah L French , Michael H Gelb , Jutta Gärtner

A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome.

Nature

Avec: Gennaro Napolitano , Chiara Di Malta , Alessandra Esposito , Mariana E G de Araujo , Salvatore Pece , Giovanni Bertalot , Maria Matarese , Valerio Benedetti , Angela Zampelli , Taras Stasyk , Diletta Siciliano , Alessandro Venuta , Marcella Cesana , Claudia Vilardo , Edoardo Nusco , Alessia Calcagnì , Pier Paolo Di Fiore , Lukas A Huber , Andrea Ballabio

Current methods to analyze lysosome morphology, positioning, motility and function.

Traffic (Copenhagen, Denmark)

Avec: Duarte C Barral , Leopoldo Staiano , Cláudia Guimas Almeida , Dan F Cutler , Emily R Eden , Clare E Futter , Antony Galione , André R A Marques , Diego Luis Medina , Gennaro Napolitano , Carmine Settembre , Otília V Vieira , Johannes M F G Aerts , Peace Atakpa-Adaji , Gemma Bruno , Antonella Capuozzo , Elvira De Leonibus , Chiara Di Malta , Cristina Escrevente , Alessandra Esposito , Paolo Grumati , Michael J Hall , Rita O Teodoro , Susana S Lopes , J Paul Luzio , Sandro Montefusco , Frances M Platt , Roman Polishchuck , Maria De Risi , Irene Sambri , Chiara Soldati , Miguel C Seabra

Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.

Nature communications

Avec: Alessia Calcagni' , Leopoldo Staiano , Nicolina Zampelli , Nadia Minopoli , Niculin J Herz , Giuseppe Di Tullio , Tuong Huynh , Alessandra Esposito , Carmine Cirillo , Aleksandar Bajic , Mahla Zahabiyon , Rachel Curnock , Elena Polishchuk , Luke Parkitny , Diego Luis Medina , Nunzia Pastore , Peter J Cullen , Giancarlo Parenti , Maria Antonietta De Matteis , Paolo Grumati , Andrea Ballabio

Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders.

Nature communications

Avec: Maria De Risi , Michele Tufano , Filomena Grazia Alvino , Maria Grazia Ferraro , Giulia Torromino , Ylenia Gigante , Elena Marrocco , Salvatore Pulcrano , Lea Tunisi , Claudia Lubrano , Dulce Papy-Garcia , Yaakov Tuchman , Alberto Salleo , Francesca Santoro , Gian Carlo Bellenchi , Luigia Cristino , Andrea Ballabio , Alessandro Fraldi , Elvira De Leonibus

Differential dysregulation of granule subsets in WASH-deficient neutrophil leukocytes resulting in inflammation.

Nature communications

Avec: Jennifer L Johnson , Elsa Meneses-Salas , Mahalakshmi Ramadass , Farhana Rahman , Raquel Carvalho Gontijo , William B Kiosses , Kersi Pestonjamasp , Dale Allen , Jinzhong Zhang , Douglas G Osborne , Yanfang Peipei Zhu , Nathan Wineinger , Kasra Askari , Danni Chen , Juan Yu , Scott C Henderson , Catherine C Hedrick , Matilde Valeria Ursini , Sergio Grinstein , Daniel D Billadeau , Sergio D Catz

RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.

Nature communications

Avec: Irene Sambri , Marco Ferniani , Giulia Campostrini , Marialuisa Testa , Viviana Meraviglia , Mariana E G de Araujo , Ladislav Dokládal , Claudia Vilardo , Nicolina Zampelli , Francesca Del Vecchio Blanco , Annalaura Torella , Carolina Ruosi , Simona Fecarotta , Giancarlo Parenti , Leopoldo Staiano , Milena Bellin , Lukas A Huber , Claudio De Virgilio , Francesco Trepiccione , Vincenzo Nigro , Andrea Ballabio

TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex.

Nature communications

Avec: Nicola Alesi , Damir Khabibullin , Dean M Rosenthal , Elie W Akl , Pieter M Cory , Michel Alchoueiry , Samer Salem , Melissa Daou , William F Gibbons , Jennifer A Chen , Long Zhang , Harilaos Filippakis , Laura Graciotti , Caterina Miceli , Claudia Vilardo , Manrico Morroni , Chiara Di Malta , Gennaro Napolitano , Andrea Ballabio , Elizabeth P Henske

Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex.

Nature

Avec: Zhicheng Cui , Gennaro Napolitano , Mariana E G de Araujo , Alessandra Esposito , Lukas A Huber , Andrea Ballabio , James H Hurley

Réseau de co-auteurs

Andrea Ballabio 8 collaborations

Alessandra Esposito 5 collaborations

Gennaro Napolitano 5 collaborations

Chiara Di Malta 3 collaborations

Mariana E G de Araujo 3 collaborations

Claudia Vilardo 3 collaborations

Lukas A Huber 3 collaborations

Leopoldo Staiano 3 collaborations

Chiara Soldati 2 collaborations

Sandro Montefusco 2 collaborations

Diego Luis Medina 2 collaborations

Elvira De Leonibus 2 collaborations

Paolo Grumati 2 collaborations

Maria De Risi 2 collaborations

Irene Sambri 2 collaborations

Nicolina Zampelli 2 collaborations

Giancarlo Parenti 2 collaborations

A Scotto Rosato 1 collaboration

S Montefusco 1 collaboration

C Soldati 1 collaboration

S Di Paola 1 collaboration

A Capuozzo 1 collaboration

J Monfregola 1 collaboration

E Polishchuk 1 collaboration

A Amabile 1 collaboration

C Grimm 1 collaboration

A Lombardo 1 collaboration

M A De Matteis 1 collaboration

A Ballabio 1 collaboration

D L Medina 1 collaboration

Irene Lopez-Fabuel 1 collaboration

Luca G Wanderlingh 1 collaboration

Marina Garcia-Macia 1 collaboration

Marta Guevara-Ferrer 1 collaboration

Anna Scotto Rosato 1 collaboration

Einar K Krogsaeter 1 collaboration

Dominik Paquet 1 collaboration

Christian M Grimm 1 collaboration

Thomas Braulke 1 collaboration

Stephan Storch 1 collaboration

Sara E Mole 1 collaboration

Maria A De Matteis 1 collaboration

Julio L Sampaio 1 collaboration

Tristan McKay 1 collaboration

Ludger Johannes 1 collaboration

Juan P Bolaños 1 collaboration

Diego L Medina 1 collaboration

Lars Schlotawa 1 collaboration

Karolina Tyka 1 collaboration

Matthias Kettwig 1 collaboration

Rebecca C Ahrens-Nicklas 1 collaboration

Matthias Baud 1 collaboration

Tea Berulava 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Alyssa Gagne 1 collaboration

Zackary M Herbst 1 collaboration

Jean A Maguire 1 collaboration

Tonatiuh Pena 1 collaboration

Karthikeyan Radhakrishnan 1 collaboration

Sophie Schröder 1 collaboration

Elisa A Waxman 1 collaboration

Thomas Dierks 1 collaboration

André Fischer 1 collaboration

Deborah L French 1 collaboration

Michael H Gelb 1 collaboration

Jutta Gärtner 1 collaboration

Salvatore Pece 1 collaboration

Giovanni Bertalot 1 collaboration

Maria Matarese 1 collaboration

Valerio Benedetti 1 collaboration

Angela Zampelli 1 collaboration

Taras Stasyk 1 collaboration

Diletta Siciliano 1 collaboration

Alessandro Venuta 1 collaboration

Marcella Cesana 1 collaboration

Edoardo Nusco 1 collaboration

Alessia Calcagnì 1 collaboration

Pier Paolo Di Fiore 1 collaboration

Duarte C Barral 1 collaboration

Cláudia Guimas Almeida 1 collaboration

Dan F Cutler 1 collaboration

Emily R Eden 1 collaboration

Clare E Futter 1 collaboration

Antony Galione 1 collaboration

André R A Marques 1 collaboration

Carmine Settembre 1 collaboration

Otília V Vieira 1 collaboration

Johannes M F G Aerts 1 collaboration

Peace Atakpa-Adaji 1 collaboration

Gemma Bruno 1 collaboration

Antonella Capuozzo 1 collaboration

Cristina Escrevente 1 collaboration

Michael J Hall 1 collaboration

Rita O Teodoro 1 collaboration

Susana S Lopes 1 collaboration

J Paul Luzio 1 collaboration

Frances M Platt 1 collaboration

Roman Polishchuck 1 collaboration

Miguel C Seabra 1 collaboration

Alessia Calcagni' 1 collaboration

Nadia Minopoli 1 collaboration

Niculin J Herz 1 collaboration

Giuseppe Di Tullio 1 collaboration

Tuong Huynh 1 collaboration

Carmine Cirillo 1 collaboration

Aleksandar Bajic 1 collaboration

Mahla Zahabiyon 1 collaboration

Rachel Curnock 1 collaboration

Elena Polishchuk 1 collaboration

Luke Parkitny 1 collaboration

Nunzia Pastore 1 collaboration

Peter J Cullen 1 collaboration

Maria Antonietta De Matteis 1 collaboration

Michele Tufano 1 collaboration

Filomena Grazia Alvino 1 collaboration

Maria Grazia Ferraro 1 collaboration

Giulia Torromino 1 collaboration

Ylenia Gigante 1 collaboration

Elena Marrocco 1 collaboration

Salvatore Pulcrano 1 collaboration

Lea Tunisi 1 collaboration

Claudia Lubrano 1 collaboration

Dulce Papy-Garcia 1 collaboration

Yaakov Tuchman 1 collaboration

Alberto Salleo 1 collaboration

Francesca Santoro 1 collaboration

Gian Carlo Bellenchi 1 collaboration

Luigia Cristino 1 collaboration

Alessandro Fraldi 1 collaboration

Jennifer L Johnson 1 collaboration

Elsa Meneses-Salas 1 collaboration

Mahalakshmi Ramadass 1 collaboration

Farhana Rahman 1 collaboration

Raquel Carvalho Gontijo 1 collaboration

William B Kiosses 1 collaboration

Kersi Pestonjamasp 1 collaboration

Dale Allen 1 collaboration

Jinzhong Zhang 1 collaboration

Douglas G Osborne 1 collaboration

Yanfang Peipei Zhu 1 collaboration

Nathan Wineinger 1 collaboration

Kasra Askari 1 collaboration

Danni Chen 1 collaboration

Juan Yu 1 collaboration

Scott C Henderson 1 collaboration

Catherine C Hedrick 1 collaboration

Matilde Valeria Ursini 1 collaboration

Sergio Grinstein 1 collaboration

Daniel D Billadeau 1 collaboration

Sergio D Catz 1 collaboration

Marco Ferniani 1 collaboration

Giulia Campostrini 1 collaboration

Marialuisa Testa 1 collaboration

Viviana Meraviglia 1 collaboration

Ladislav Dokládal 1 collaboration

Francesca Del Vecchio Blanco 1 collaboration

Annalaura Torella 1 collaboration

Carolina Ruosi 1 collaboration

Simona Fecarotta 1 collaboration

Milena Bellin 1 collaboration

Claudio De Virgilio 1 collaboration

Francesco Trepiccione 1 collaboration

Vincenzo Nigro 1 collaboration

Nicola Alesi 1 collaboration

Damir Khabibullin 1 collaboration

Dean M Rosenthal 1 collaboration

Elie W Akl 1 collaboration

Pieter M Cory 1 collaboration

Michel Alchoueiry 1 collaboration

Samer Salem 1 collaboration

Melissa Daou 1 collaboration

William F Gibbons 1 collaboration

Jennifer A Chen 1 collaboration

Long Zhang 1 collaboration

Harilaos Filippakis 1 collaboration

Laura Graciotti 1 collaboration

Caterina Miceli 1 collaboration

Manrico Morroni 1 collaboration

Elizabeth P Henske 1 collaboration

Zhicheng Cui 1 collaboration

James H Hurley 1 collaboration