Results 61 to 70 of about 393,617 (341)

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

FEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile, Daniela Ratto, Giorgia Rastelli, Ottavia Eleonora Ferraro, Caterina Temporini, Sunil Kumar, Simona Boncompagni, Paola Rossi, Monica Canepari   +8 more
wiley   +1 more source

Hereditary myopathy with early respiratory failure in China: one case report and literatures review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2023
Objective To retrospectively analyze the clinical sign and symptom, pathological and genetic characteristics of a case of hereditary myopathy with early respiratory failure (HMERF).
LI Ying, QI Xue‑liang, ZHANG Wei, FENG Li‑qun, LIU Guang‑zhi, YUAN Yun   +5 more
doaj   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

Disease burden of spinal muscular atrophy in Germany [PDF]

Orphanet Journal of Rare Diseases, 2016
This study aimed at analyzing the economic burden and disease-specific health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in Germany. SMA is a so far non-curable neuromuscular disease of the anterior nerve cells that causes high rates of morbidity and mortality.In a cross-sectional study we analyzed the cost of ...
Klug, Constanze, Schreiber-Katz, Olivia, Thiele, Simone, Schorling, Elisabeth, Zowe, Janet, Reilich, Peter, Walter, Maggie C., Nagels, Klaus H.   +7 more
openaire   +4 more sources

Acute Kidney Injury and Quadriparesis Due to Rosuvastatin Induced Rhabdomyolysis- A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
Statins as lipid lowering drugs, are safe and effective in reducing cardiovascular disease risk, but rarely produce myopathy like myalgia, myositis or rhabdomyolysis.
KAMLESH S. SUTHAR, ARUNA V. VANIKAR, HARGOVIND L. TRIVEDI   +2 more
doaj   +1 more source

A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]

, 2012
Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Arnold, Anne-Sophie, Christe, Martine, Handschin, Christoph   +2 more
core   +1 more source

Determination of ADP/ATP translocase isoform ratios in malignancy and cellular senescence

Molecular Oncology, EarlyView.
The individual functions of three isoforms exchanging ADP and ATP (ADP/ATP translocases; ANTs) on the mitochondrial membrane remain unclear. We developed a method for quantitatively differentiating highly similar human ANT1, ANT2, and ANT3 using parallel reaction monitoring. This method allowed us to assess changes in translocase levels during cellular
Zuzana Liblova, Dominika Maurencova, Barbora Salovska, Marek Kratky, Tomas Mracek, Zuzana Korandova, Alena Pecinova, Pavla Vasicova, David Rysanek, Ladislav Andera, Ivo Fabrik, Rudolf Kupcik, Pavel Kashmel, Pinky Sultana, Vojtech Tambor, Jiri Bartek, Josef Novak, Marie Vajrychova, Zdenek Hodny   +18 more
wiley   +1 more source

Prenatal muscle development in a mouse model for the secondary dystroglycanopathies [PDF]

, 2016
The defective glycosylation of α-dystroglycan is associated with a group of muscular dystrophies that are collectively referred to as the secondary dystroglycanopathies.
A Leschziner, A Matsakas, A Yoshida, AM Beedle, AR Raphael, B Xia, B-V BD de, C Godfrey, C Longman, C Whitmore, CA Schneider, D Merrick, D Montarras, DE Michele, DJ Blake, DJ Lefeber, E Hohenester, E Stevens, F Muntoni, H Yin, J Reeuwijk van, J Ross, JB Miller, K Buysse, K Kobayashi, KM Wright, KP Campbell, L Wells, M Brockington, M Brockington, M Kanagawa, M Kanagawa, M Narusawa, M Ontell, MD Henry, MJ Duxson, MM Goddeeris, MR Ackroyd, MR Ackroyd, O Armand, S Chan, S Cirak, S Costanzo Di, S Sato, S Schiaffino, S Sugita, SC Brown, T Roscioli, T Willer, TJ Hawke   +49 more
core   +1 more source

Systematic profiling of cancer‐fibroblast interactions reveals drug combinations in ovarian cancer

Molecular Oncology, EarlyView.
Fibroblasts, cells in the tumor environment, support ovarian cancer cell growth and alter morphology and drug response. We used fibroblast and cancer cell co‐culture models to test 528 drugs and discovered new drugs for combination treatment. We showed that adding Vorinostat or Birinapant to standard chemotherapy may improve drug response, suggesting ...
Greta Gudoityte, Osheen Sharma, Laura Leuenberger, Emelie Wallin, Josefin Fernebro, Päivi Östling, Rebecka Bergström, Johan Lindberg, Ulrika Joneborg, Olli Kallioniemi, Brinton Seashore‐Ludlow   +10 more
wiley   +1 more source

Disease taxonomy - monogenic muscular dystrophy [PDF]

British Medical Bulletin, 1999
The field of the autosomal recessive progressive muscular dystrophies has clarified significantly following the recent elucidation of the genetic and molecular etiology of a number of these entities. These studies illustrate how genetics provides a rationale and objective basis for a new, refined nosology.
openaire   +3 more sources