Explanipedia

Genetic Deletion of the Purinergic Receptor <i>P2rx7</i> Worsens the Phenotype of α-Sarcoglycan Muscular Dystrophy Open

Cecilia Astigiano, Elisa Principi, Sara Pintus, Andrea Benzi, Serena Baratto , et al. · 2025

Limb-girdle muscular dystrophy R3 (LGMDR3), a rare genetic disorder characterized by progressive impairment of limb, diaphragmatic, and respiratory muscles, is caused by loss-of-function mutations in the α-sarcoglycan gene (SGCA) an…

Undetected Neuromuscular Disease in Patients after Heart Transplantation Open

Biniam Melese Bekele, Elisabetta Gazzerro, Felix Schoenrath, Volkmar Falk, Simone Rost , et al. · 2024

(1) Heart transplantation (HTX) improves the overall survival and functional status of end-stage heart failure patients with cardiomyopathies (CMPs). The majority of CMPs have genetic causes, and the overlap between CMPs and inherited myop…

Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 Mutations Open

Patrizia Benzoni, Elisabetta Gazzerro, Chiara Fiorillo, Serena Baratto, Chiara Bartolucci , et al. · 2024

Caveolae constitute membrane microdomains where receptors and ion channels functionally interact. Caveolin-3 (cav-3) is the key structural component of muscular caveolae. Mutations in CAV3 lead to caveolinopathies, which result in both mus…

“suMus,” a novel digital system for arm movement metrics and muscle energy expenditure Open

Teresa Gerhalter, Christina Müller, Elke Maron, Markus Thielen, Teresa Schätzl , et al. · 2023

Objective: In the field of non-treatable muscular dystrophies, promising new gene and cell therapies are being developed and are entering clinical trials. Objective assessment of therapeutic effects on motor function is mandatory for econo…

Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies Open

Andrea Benzi, Serena Baratto, Cecilia Astigiano, Laura Sturla, Chiara Panicucci , et al. · 2023

Targeting gut dysbiosis against inflammation and impaired autophagy in Duchenne muscular dystrophy Open

Hilal Kalkan, Ester Pagano, Debora Paris, Elisabetta Panza, Mariarosaria Cuozzo , et al. · 2023

Nothing is known about the potential implication of gut microbiota in skeletal muscle disorders. Here, we provide evidence that fecal microbiota composition along with circulating levels of short‐chain fatty acids (SCFAs) and related metab…

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey Open

Lynda El‐Hassar, Ahmed Ben Amara, Benoît Sanson, Oana Lăcătuș, Ahmed Amir Belhouchet , et al. · 2022

Background: Telemedicine (TM) contributes to bridge the gap between healthcare facilities and patients’ homes with neuromuscular disease (NMD) because of mobility issues. However, its deployment is limited due to difficulties evaluating su…

P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy Open

Lizzia Raffaghello, Elisa Principi, Serena Baratto, Chiara Panicucci, Sara Pintus , et al. · 2022

Limb-girdle muscular dystrophy R3, a rare genetic disorder affecting the limb proximal muscles, is caused by mutations in the α-sarcoglycan gene (Sgca) and aggravated by an immune-mediated damage, finely modulated by the extracellular (e)A…

Role of Extracellular ATP in the Progression of Muscle Damage in Sarcoglycanopathies Open

Elisabetta Gazzerro · 2021

Limb Girdle Muscular Dystrophy 2D (LGMD2D) is an inherited disorder characterized by progressive weakness and degeneration of skeletal muscle, loss of ambulation, respiratory insufficiency and, often, premature death. The disease results f…

eATP/P2X7R Axis: An Orchestrated Pathway Triggering Inflammasome Activation in Muscle Diseases Open

Chiara Panicucci, Lizzia Raffaghello, Santina Bruzzone, Serena Baratto, Elisa Principi , et al. · 2020

In muscle ATP is primarily known for its function as an energy source and as a mediator of the “excitation-transcription” process, which guarantees muscle plasticity in response to environmental stimuli. When quickly released in massive co…

Table of Contents Open

Qiaoli Li, Koen van de Wetering, Jouni Uitto, Mehmet M. Altintas, Jochen Reiser , et al. · 2019

The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan–Deficient Muscular Dystrophy Open

Elisabetta Gazzerro, Serena Baratto, Stefania Assereto, Sımona Baldassari, Chiara Panicucci , et al. · 2018

Genetic and pharmacological regulation of the endocannabinoid CB1 receptor in Duchenne muscular dystrophy Open

Fabio Arturo Iannotti, Ester Pagano, Ombretta Guardiola, Simone Adinolfi, Valentina Saccone , et al. · 2018

Effects of non‐euphoric plant cannabinoids on muscle quality and performance of dystrophic mdx mice Open

Fabio Arturo Iannotti, Ester Pagano, Aniello Schiano Moriello, Filomena Grazia Alvino, Nicolina Cristina Sorrentino , et al. · 2018

Background and Purpose Duchenne muscular dystrophy (DMD), caused by dystrophin deficiency, results in chronic inflammation and irreversible skeletal muscle degeneration. Moreover, the associated impairment of autophagy greatly contributes …

Zidovudine ameliorates pathology in the mouse model of Duchenne muscular dystrophy via P2RX7 purinoceptor antagonism Open

Rasha Al-Khalidi, Chiara Panicucci, Paul A. Cox, Natalia Chira, Justyna Róg , et al. · 2018

Clinical and molecular consequences of exon 78 deletion in DMD gene Open

Monica Traverso, Stefania Assereto, Serena Baratto, Michele Iacomino, Marina Pedemonte , et al. · 2018

Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene Open

Viviana Meraviglia, Patrizia Benzoni, Sara Landi, Carmen Murano, Marianna Langione , et al. · 2017

1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France Open

Justine Marsolier, Pascal Laforêt, Elena Pegoraro, John Vissing, Isabelle Richard , et al. · 2017

The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy Open

Stefania Assereto, Rosanna Piccirillo, Serena Baratto, Paolo Scudieri, Chiara Fiorillo , et al. · 2016

Gap Junctions and Epileptogenesis: No Laughing Matter Open

Elisabetta Gazzerro, Pasquale Striano · 2016

Hypothalamic hamartoma (HH) is a rare (about 1:100,000) developmental, non-neoplastic malformation involving the small hypothalamic area located between the infundibular stalk and the mammillary bodies (Maixner, 2006Maixner W. Hypothalamic…

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane Open

Jeremy M. Baskin, Xudong Wu, Romain Christiano, Michael S. Oh, Curtis Schauder , et al. · 2015

Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis Open

Elisabetta Gazzerro, Sımona Baldassari, Stefania Assereto, Floriana Fruscione, Angela Pistorio , et al. · 2015

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