Results 41 to 50 of about 433,578 (358)

Redox homeostasis and inflammation in fibroblasts of patients with Friedreich Ataxia: a possible cross talk

Frontiers in Molecular Neuroscience
Redox homeostasis is impaired in Friedreich’s Ataxia (FRDA), a neurodegenerative disease caused by the decreased expression of the mitochondrial protein frataxin.
Andrea Quatrana, Sara Petrillo, Caterina Torda, Eleonora De Santis, Enrico Bertini, Fiorella Piemonte   +5 more
doaj   +1 more source

Variation of total antioxidant status after ischemic stroke [PDF]

Romanian Journal of Neurology, 2011
There is strong evidence that oxidative stress appears to be a major contributor to ischemic brain injury. Objective: To study dynamic evolution of Total Antioxidant Status (TAS) and other markers of oxidative stress after ischemic stroke and to fi nd ...
Ioana Varga, Iulian Ionescu
doaj   +1 more source

Musculoskeletal complications of Cushing syndrome

Rheumatology, 2023
Prolonged exposure to an excess of glucocorticosteroids (GCs), both endogenous and exogenous, leads to a wide range of comorbidities, including cardiovascular, metabolic, psychiatric, and musculoskeletal disorders.
Dorota Leszczyńska, Alicja Szatko, Lucyna Papierska, Wojciech Zgliczyński, Piotr Glinicki   +4 more
doaj   +1 more source

Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome

eLife
Hypoplastic left heart syndrome (HLHS) is the most lethal congenital heart disease (CHD) whose genetic basis remains elusive, likely due to oligogenic complexity. To identify regulators of cardiomyocyte (CM) proliferation relevant to HLHS, we performed a
Tanja Nielsen, Anaïs Kervadec, Jeanne L Theis, Maria A Missinato, James Marchant, Michaela Romero, Katya Marchetti, Aashna Lamba, Xin-Xin I Zeng, Marie Berenguer, Stanley M Walls, Analyne Schroeder, Katja Birker, Greg Duester, Paul Grossfeld, Timothy J Nelson, Timothy M Olson, Karen Ocorr, Rolf Bodmer, Georg Vogler, Alexandre R Colas   +20 more
doaj   +1 more source

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio, DiPaolo, Giovanni, Guglieri, Michela, Jimenez-Moreno, Cecilia, Lochmüller, Hanns, Monckton, Darren G., Nikolenko, Nikoletta   +6 more
core   +2 more sources

The use of umbilical cord‐derived mesenchymal stem cells in patients with muscular dystrophies: Results from compassionate use in real‐life settings

Stem Cells Translational Medicine, 2021
Muscular dystrophies are genetically determined progressive diseases with no cause‐related treatment and limited supportive treatment. Although stem cells cannot resolve the underlying genetic conditions, their wide‐ranging therapeutic properties may ...
Beata Świątkowska‐Flis, Izabela Zdolińska‐Malinowska, Dominika Sługocka, Dariusz Boruczkowski   +3 more
doaj   +1 more source

Review: Dystroglycan in the Nervous System [PDF]

, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +2 more sources

The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis. [PDF]

, 2020
Background: The cytokine growth differentiation factor-15 (GDF-15) has been associated with inflammatory and mitochondrial disease, warranting exploration of its expression in myositis patients.
De Bleecker, Jan, De Paepe, Boel, Verhamme, Fien   +2 more
core   +2 more sources

Tenascin-C from the tissue microenvironment promotes muscle stem cell maintenance and function through Annexin A2

Communications Biology
Skeletal muscle regeneration occurs through the finely timed activation of resident muscle stem cells (MuSC). Following injury, MuSC exit quiescence, undergo myogenic commitment, and regenerate the muscle.
Alessandra Cecchini, Mafalda Loreti, Collin D. Kaufman, Cedomir Stamenkovic, Gabriele Guarnaccia, Alma Renero, Chiara Nicoletti, Anais Kervadec, Daphne Mayer, Shawn Delaware, Luca Caputo, Xiuqing Wei, Alexandre Colas, Pier Lorenzo Puri, Alessandra Sacco   +14 more
doaj   +1 more source

Ion channels: structural basis for function and disease. [PDF]

, 1996
Ion channels are ubiquitous proteins that mediate nervous and muscular function, rapid transmembrane signaling events, and ionic and fluid balance. The cloning of genes encoding ion channels has led to major strides in understanding the mechanistic basis
Goldstein, SA
core   +1 more source