Search Results - "Mázala, Davi A G"

The role of proteases in excitation-contraction coupling failure in muscular dystrophy by Mázala, Davi A G, Grange, Robert W, Chin, Eva R

“…Duchenne muscular dystrophy (DMD) is one of the most frequent types of muscular dystrophy. Alterations in intracellular calcium (Ca(2+)) handling are thought…”
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Coping with the calcium overload caused by cell injury: ER to the rescue by Chandra, Goutam, Mázala, Davi A G, Jaiswal, Jyoti K

“…Cells maintain their cytosolic calcium (Ca ) in nanomolar range and use controlled increase in Ca for intracellular signaling. With the extracellular Ca in the…”
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Endoplasmic reticulum maintains ion homeostasis required for plasma membrane repair by Chandra, Goutam, Sreetama, Sen Chandra, Mázala, Davi A G, Charton, Karine, VanderMeulen, Jack H, Richard, Isabelle, Jaiswal, Jyoti K

“…Of the many crucial functions of the ER, homeostasis of physiological calcium increase is critical for signaling. Plasma membrane (PM) injury causes a…”
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Perturbations in intracellular Ca2+ handling in skeletal muscle in the G93ASOD1 mouse model of amyotrophic lateral sclerosis by Chin, Eva R, Chen, Dapeng, Bobyk, Kostyantyn D, Mázala, Davi A G

“…Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by skeletal muscle atrophy and weakness, ultimately leading to…”
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NAD+ repletion improves muscle function in muscular dystrophy and counters global PARylation by Ryu, Dongryeol, Zhang, Hongbo, Ropelle, Eduardo R, Sorrentino, Vincenzo, Mázala, Davi A G, Mouchiroud, Laurent, Marshall, Philip L, Campbell, Matthew D, Ali, Amir Safi, Knowels, Gary M, Bellemin, Stéphanie, Iyer, Shama R, Wang, Xu, Gariani, Karim, Sauve, Anthony A, Cantó, Carles, Conley, Kevin E, Walter, Ludivine, Lovering, Richard M, Chin, Eva R, Jasmin, Bernard J, Marcinek, David J, Menzies, Keir J, Auwerx, Johan

“…Neuromuscular diseases are often caused by inherited mutations that lead to progressive skeletal muscle weakness and degeneration. In diverse populations of…”
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SERCA1 overexpression minimizes skeletal muscle damage in dystrophic mouse models by Mázala, Davi A G, Pratt, Stephen J P, Chen, Dapeng, Molkentin, Jeffery D, Lovering, Richard M, Chin, Eva R

“…Duchenne muscular dystrophy (DMD) is characterized by progressive muscle wasting secondary to repeated muscle damage and inadequate repair. Elevations in…”
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Calcium dysregulation, functional calpainopathy, and endoplasmic reticulum stress in sporadic inclusion body myositis by Amici, David R, Pinal-Fernandez, Iago, Mázala, Davi A G, Lloyd, Thomas E, Corse, Andrea M, Christopher-Stine, Lisa, Mammen, Andrew L, Chin, Eva R

“…Sporadic inclusion body myositis (IBM) is the most common primary myopathy in the elderly, but its pathoetiology is still unclear. Perturbed myocellular…”
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Altered muscle niche contributes to myogenic deficit in the D2-mdx model of severe DMD by Mázala, Davi A. G., Hindupur, Ravi, Moon, Young Jae, Shaikh, Fatima, Gamu, Iteoluwakishi H., Alladi, Dhruv, Panci, Georgiana, Weiss-Gayet, Michèle, Chazaud, Bénédicte, Partridge, Terence A., Novak, James S., Jaiswal, Jyoti K.

“…Lack of dystrophin expression is the underlying genetic basis for Duchenne muscular dystrophy (DMD). However, disease severity varies between patients, based…”
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Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics by Haug, Michael, Reischl, Barbara, Nübler, Stefanie, Kiriaev, Leonit, Mázala, Davi A. G., Houweling, Peter J., North, Kathryn N., Friedrich, Oliver, Head, Stewart I.

“…Abstract Background A common polymorphism (R577X) in the ACTN3 gene results in the complete absence of the Z-disc protein α-actinin-3 from fast-twitch muscle…”
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The SH3 and cysteine-rich domain 3 (Stac3) gene is important to growth, fiber composition, and calcium release from the sarcoplasmic reticulum in postnatal skeletal muscle by Cong, Xiaofei, Doering, Jonathan, Mazala, Davi A G, Chin, Eva R, Grange, Robert W, Jiang, Honglin

“…The SH3 and cysteine-rich domain 3 (Stac3) gene is specifically expressed in the skeletal muscle. Stac3 knockout mice die perinatally. In this study, we…”
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Human muscle stem cells are refractory to aging by Novak, James S., Mázala, Davi A. G., Nearing, Marie, Hindupur, Ravi, Uapinyoying, Prech, Habib, Nayab F., Dickson, Tessa, Ioffe, Olga B., Harris, Brent T., Fidelia‐Lambert, Marie N., Rossi, Christopher T., Hill, D. Ashely, Wagner, Kathryn R., Hoffman, Eric P., Partridge, Terence A.

“…Age‐related loss of muscle mass and strength is widely attributed to limitation in the capacity of muscle resident satellite cells to perform their myogenic…”
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Interrogation of Dystrophin and Dystroglycan Complex Protein Turnover After Exon Skipping Therapy by Novak, James S, Spathis, Rita, Dang, Utkarsh J, Fiorillo, Alyson A, Hindupur, Ravi, Tully, Christopher B, Mázala, Davi A G, Canessa, Emily, Brown, Kristy J, Partridge, Terence A, Hathout, Yetrib, Nagaraju, Kanneboyina

“…Recently, the Food and Drug Administration granted accelerated approvals for four exon skipping therapies -Eteplirsen, Golodirsen, Viltolarsen, and Casimersen…”
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Pathogenic role and therapeutic potential of fibro-adipogenic progenitors in muscle disease by Hogarth, Marshall W., Uapinyoying, Prech, Mázala, Davi A.G., Jaiswal, Jyoti K.

“…Aside from myofibers, numerous mononucleated cells reside in the skeletal muscle. These include the mesenchymal cells called fibro-adipogenic progenitors…”
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Single-cell transcriptomic analysis of the identity and function of fibro/adipogenic progenitors in healthy and dystrophic muscle by Uapinyoying, Prech, Hogarth, Marshall, Battacharya, Surajit, Mázala, Davi A.G., Panchapakesan, Karuna, Bönnemann, Carsten G., Jaiswal, Jyoti K.

“…Fibro/adipogenic progenitors (FAPs) are skeletal muscle stromal cells that support regeneration of injured myofibers and their maintenance in healthy muscles…”
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Absence of the Z-disc protein [alpha]-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics by Haug, Michael, Reischl, Barbara, Nübler, Stefanie, Kiriaev, Leonit, Mázala, Davi A. G, Houweling, Peter J, North, Kathryn N, Friedrich, Oliver, Head, Stewart I

“…A common polymorphism (R577X) in the ACTN3 gene results in the complete absence of the Z-disc protein [alpha]-actinin-3 from fast-twitch muscle fibres in ~ 16%…”
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Deficits in Excitation‐Contraction Coupling in Aged Mice by Li, Harry, Mázala, Davi AG, Chin, Eva R

“…Abstract only Age‐related muscle weakness is due to muscle atrophy as well as decreases in specific tension. This is due, at least in part, to altered…”
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TGF-β-driven muscle degeneration and failed regeneration underlie disease onset in a DMD mouse model by Mázala, Davi Ag, Novak, James S, Hogarth, Marshall W, Nearing, Marie, Adusumalli, Prabhat, Tully, Christopher B, Habib, Nayab F, Gordish-Dressman, Heather, Chen, Yi-Wen, Jaiswal, Jyoti K, Partridge, Terence A

“…Duchenne muscular dystrophy (DMD) is a chronic muscle disease characterized by poor myogenesis and replacement of muscle by extracellular matrix. Despite the…”
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Alterations in intracellular free Ca 2+ concentrations in intact single muscle fibres from ALS mice by Chin, Eva R., Goodman, Steven R., Mazala, Davi A. G., Chen, Dapeng

“…Abstract only…”
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Alterations in intracellular free Ca2+ concentrations in intact single muscle fibres from ALS mice by Chin, Eva R., Goodman, Steven R., Mazala, Davi A. G., Chen, Dapeng

“…Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease characterized by skeletal muscle atrophy, weakness and paralysis leading to…”
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