J. Monfregola

发表

MUNC13-4 Protein Regulates the Oxidative Response and Is Essential for Phagosomal Maturation and Bacterial Killing in Neutrophils*

M. Meijler, Gennaro Napolitano, S. Catz, 2012, The Journal of Biological Chemistry.

mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy.

A. Ballabio, Rosa Bartolomeo, C. Lanzara, 2017, The Journal of clinical investigation.

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

A. Galione, J. Luzio, C. Futter, 2022, Traffic.

Munc13-4 interacts with syntaxin 7 and regulates late endosomal maturation, endosomal signaling, and TLR9-initiated cellular responses

Jinzhong Zhang, K. Pestonjamasp, Gennaro Napolitano, 2016, Molecular biology of the cell.

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

A. Ballabio, A. Salleo, A. Fraldi, 2021, Nature Communications.

L-Carnitine protects mammalian cells from chromosome aberrations but not from inhibition of cell proliferation induced by hydrogen peroxide.

S. Salzano, M. Ursini, M. B. Lioi, 2005, Mutation research.

Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth

A. Ballabio, R. Zoncu, P. Pelicci, 2017, Science.

Structural basis for mTORC1-dependent regulation of the lysosomal and autophagic transcription factor TFEB

A. Ballabio, J. Hurley, Mariana E. G. de Araujo, 2022, bioRxiv.

Functional Characterization of Wiskott-Aldrich Syndrome Protein and Scar Homolog (WASH), a Bi-modular Nucleation-promoting Factor Able to Interact with Biogenesis of Lysosome-related Organelle Subunit 2 (BLOS2) and γ-Tubulin*

M. D'urso, P. Lappalainen, Gennaro Napolitano, 2010, The Journal of Biological Chemistry.

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

D. G. Osborne, S. Grinstein, C. Hedrick, 2022, Nature Communications.

Munc13-4 Restricts Motility of Rab27a-expressing Vesicles to Facilitate Lipopolysaccharide-induced Priming of Exocytosis in Neutrophils*

W. Kiosses, S. Catz, J. Johnson, 2010, The Journal of Biological Chemistry.

NESCA: A new NEMO/IKKgamma and TRAF6 interacting protein

A. Leonardi, S. Mirra, Gennaro Napolitano, 2009, Journal of cellular physiology.

Upregulation of the Rab27a-Dependent Trafficking and Secretory Mechanisms Improves Lysosomal Transport, Alleviates Endoplasmic Reticulum Stress, and Reduces Lysosome Overload in Cystinosis

S. Cherqui, Gennaro Napolitano, C. Rocca, 2013, Molecular and Cellular Biology.

Vesicular trafficking through cortical actin during exocytosis is regulated by the Rab27a effector JFC1/Slp1 and the RhoA-GTPase–activating protein Gem-interacting protein

W. Kiosses, Gennaro Napolitano, S. Catz, 2012, Molecular biology of the cell.

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

A. Ballabio, C. Grimm, D. Medina, 2019, Nature Communications.

Supplementary Information ( SI )

R. Twieg, S. Cherqui, K. Pestonjamasp, 2010 .

Title Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis Permalink

S. Cherqui, K. Pestonjamasp, Gennaro Napolitano, 2015 .

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

A. Ballabio, M. Cesana, L. Huber, 2020, Nature.

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions

M. D'urso, M. Miano, G. Neri, 2007, BMC Medical Genetics.

mTOR-dependent phosphorylation controls TFEB nuclear export

Maria Matarese, Andrea Ballabio, Jennifer Lippincott-Schwartz, 2018, Nature Communications.

The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter.

M. D'urso, C. Pignata, M. Ursini, 2002, Gene.

Increased Survival and Reduced Neutrophil Infiltration of the Liver in Rab27a- but Not Munc13-4-Deficient Mice in Lipopolysaccharide-Induced Systemic Inflammation

S. Catz, J. Johnson, H. Hong, 2011, Infection and Immunity.

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype

A. Ballabio, C. Grimm, L. Johannes, 2021, EMBO molecular medicine.

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

M. Cesana, G. Bertalot, P. P. Di Fiore, 2020, Nature.

Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting

M. D'urso, A. Terracciano, R. Wanders, 2005, Journal of cellular physiology.

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

A. Ballabio, F. Trepiccione, V. Meraviglia, 2023, Nature communications.

Structure of the lysosomal mTORC1–TFEB–Rag–Ragulator megacomplex

J. Hurley, Mariana E. G. de Araujo, Gennaro Napolitano, 2023, Nature.

Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.

M. D'urso, Armando Cevenini, Gennaro Napolitano, 2007, Gene.

Characterization of the human STAT5A and STAT5B promoters: evidence of a positive and negative mechanism of transcriptional regulation

M. D'urso, M. Ursini, S. Crispi, 2004, FEBS letters.

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

P. Cullen, D. Medina, G. Parenti, 2023, Nature communications.

Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

S. Cherqui, K. Pestonjamasp, C. Rocca, 2015, EMBO molecular medicine.

NESCA: A new NEMO/IKKgamma and TRAF6 interacting protein

A. Leonardi, S. Mirra, M. Ursini, 2009, Journal of cellular physiology.

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions

M. D'urso, M. Miano, G. Neri, 2007, BMC Medical Genetics.