Jean Piero Margaria

Single genome analysis of normal cells identifies the early steps of kidney cancer

Jean Piero Margaria, Giovanni Battista Pipitone, Alessandro Larcher, Sipontina Faienza et autres

Abstract Whole genome analyses have shown that every cell of the body accumulates thousands of genetic changes during a lifetime, with implications for cancer initiation. We have analyzed normal kidney cells from both healthy individuals and patients with the Von Hippel Lindau …

it, gb, es, fi, dk (code pays fourni par la source)

SH3BP5L triggers the RAB11A-regulated integrin recycling network implicated in breast cancer metastasis

Huayi Li, Maria Chiara De Santis, Francesco A. Tucci, Daniela Tosoni et autres

Metastatic progression in aggressive breast cancer (BC) depends on a tightly controlled vesicular recycling network regulated by RAB11, a small guanosine triphosphate enzyme (GTPase). In a cohort of more than 1,000 patients with BC, we identified SH3BP5L as the most highly expressed …

it, ca (code pays fourni par la source)

Reconstructing the lifelong history of cells and tissues via somatic mutation analysis

Sipontina Faienza, Jean Piero Margaria, Irene Franco

During a lifetime, normal cells accumulate thousands of changes in their genome sequence. These changes, termed somatic mutations, have mostly been studied in the context of cancer, but their presence in normal tissues is ubiquitous and widespread. Somatic mutation accompanies the aging …

it (code pays fourni par la source)

A competition network connects Rab5 and Rab11 GTPases at the surface of endocytic structures

Elsi Ferro, Simone Tealdi, Jean Piero Margaria, Maria Chiara De Santis et autres

Specificity in membrane trafficking relies on the interaction between Rab small GTPase proteins and their molecular effectors. However, the evidence that different Rab proteins can bind to common effectors challenges this view. Here, we show that molecular competition between distinct Rab GTPases …

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Somatic mutations acquired during life: state of the art and implications for the kidney

Jean Piero Margaria, Sipontina Faienza, Irene Franco

As a consequence of continuous interaction with mutagens, the genome sequence accumulates changes, which are referred to as somatic mutations. Somatic variants acquired by normal cells during a lifetime are difficult to detect with common sequencing methods. This review provides a basic …

it (code pays fourni par la source)

Cardiac Gene Therapy With Phosphodiesterase 2A Limits Remodeling and Arrhythmias in Mouse Models of Heart Failure

Rima Kamel, Aurélia Bourcier, Jean Piero Margaria, Audrey Varin et autres

BACKGROUND: PDE2 (phosphodiesterase 2) is upregulated in human heart failure. Cardiac PDE2-transgenic mice are protected against contractile dysfunction and arrhythmias in heart failure but whether an acute elevation of PDE2 could be of therapeutic value remains elusive. This hypothesis was tested using …

fr, it (code pays fourni par la source)

Gene therapy with phosphodiesterases 2A and 4B ameliorates heart failure and arrhythmias by improving subcellular cAMP compartmentation

Nikoleta Pavlaki, Alexander Froese, Wener Li, Kirstie A. De Jong et autres

AIMS: Gene therapy with cardiac phosphodiesterases (PDEs), such as phosphodiesterase 4B (PDE4B), has recently been described to effectively prevent heart failure (HF) in mice. However, exact molecular mechanisms of its beneficial effects, apart from general lowering of cardiomyocyte cyclic adenosine monophosphate (cAMP) …

de, it (code pays fourni par la source)

#1193 Tracking kidney cancer initiation via somatic mutation analysis of pre-cancer cells from Von Hippel Lindau cancer predisposition syndrome

Jean Piero Margaria, Giovanni Battista Pipitone, Alessandro Larcher, Sipontina Faienza et autres

Abstract Background and Aims Somatic mutations promote the transition from a normal cell to a cancer clone. Little is known about the factors that promote mutation in normal tissues, but whole genome sequencing of pre-cancer cells, followed by mutational pattern analyses, is …

it (code pays fourni par la source)

Cardiac gene therapy with PDE2A limits remodeling and arrhythmias in mouse models of heart failure induced by catecholamines

Rima Kamel, Aurélia Bourcier, Jean Piero Margaria, Audrey Varin et autres

ABSTRACT BACKGROUND Constitutive cardiac PDE2 activation was shown to protect against contractile dysfunction and arrhythmia in heart failure (HF). However, it remains unknown whether an acute elevation of PDE2 is efficient to prevent maladaptive remodeling and arrhythmia. In this study we tested …

fr, it (code pays fourni par la source)

Beneficial effects of a cardiac gene therapy with phosphodiesterase pde2a in a mouse model of heart failure

Rima Kamel, Aurélia Bourcier, Jean Piero Margaria, Julie Larue et autres

fr, it (code pays fourni par la source)

Effects of AAV9-mediated cardiac phosphodiesterase 4B and 2A overexpression in a mouse model of heart failure with preserved ejection fraction

Bernadin Ndongson Dongmo, Jan Magnus Aronsen, Gaia Calamera, Mette Ovesen et autres

no, de, it, fr (code pays fourni par la source)

A lysosomal lipid switch sensitizes to nutrient deprivation and mTOR targeting in pancreatic cancer

Maria Chiara De Santis, Luca Gozzelino, Edoardo Ratto, Jean Piero Margaria et autres

it, nl (code pays fourni par la source)