Results 81 to 90 of about 42,806 (266)

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]

, 2019
Background: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid β-oxidation disorders. Without dietary management the conditions are life-threatening. We conducted a systematic
Clarke, Aileen, Connock, Martin, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Johnson, Samantha, Stinton, Christopher, Taylor-Phillips, Sian   +7 more
core   +2 more sources

Role of selenium in the pathophysiology of cardiorenal anaemia syndrome

ESC Heart Failure, Volume 12, Issue 2, Page 770-780, April 2025.
Abstract Chronic kidney disease (CKD) and cardiovascular disease (CVD) have multiple bidirectional mechanisms, and anaemia is one of the critical factors that are associated with the progression of the two disorders [referred to as cardiorenal anaemia syndrome (CRAS)].
Shigeyuki Arai, Minoru Yasukawa, Shigeru Shibata   +2 more
wiley   +1 more source

Mitochondrial Myopathy and Cardiomyopathy

Pediatric Neurology Briefs, 1989
Two siblings with infantile lactic acidosis and mitochondrial myopathy are reported from the Department of Pediatrics, Goteborg University; Ostra Hospital; Goteborg, Sweden.
J Gordon Millichap
doaj   +1 more source

Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy [PDF]

, 2016
BACKGROUND: Mitochondrial myopathy severely affects skeletal muscle structure and function resulting in defective oxidative phosphorylation. However, the major pathomechanisms and therewith effective treatment approaches remain elusive.
Carsten Lundby, Christina M. Spengler, Hans H. Jung, Jens A. Petersen, Maria Ligon-Auer, Sandro Manuel Mueller, Saskia Maria Gehrig, Sebastian Frese, Violeta Mihaylova   +8 more
core   +1 more source

Commonalities of platelet dysfunction in heart failure with preserved ejection fraction and underlying comorbidities

ESC Heart Failure, Volume 12, Issue 2, Page 1013-1028, April 2025.
Abstract Heart failure with preserved ejection fraction (HFpEF) is characterized by a lack of a specific targeted treatment and a complex, partially unexplored pathophysiology. Common comorbidities associated with HFpEF are hypertension, atrial fibrillation, obesity and diabetes.
Giorgia D'Italia, Blanche Schroen, Judith M.E.M. Cosemans   +2 more
wiley   +1 more source

Aerobic exercise in children with oxidative phosphorylation defects

Neurology International, 2010
Fatigue and exercise intolerance are symptoms in children with metabolic myopathy. Frequently this is combined with muscle pain in children with mitochondrial myopathy. Offering therapeutic advice remains challenging in this patient group.
Luuk Schreuder, Gera Peters, Ria Nijhuis-van der Sanden, Eva Morava   +3 more
doaj   +1 more source

The multiple ADP/ATP translocase genes are differentially expressed during human muscle development [PDF]

, 1992
The expression of the genes encoding the three isoforms of the human ADP/ATP translocase (T1, T2, and T3) has been analyzed at different stages of myogenic differentiation in an in vitro muscle cell system and compared with that in mature muscle.
Attardi, Giuseppe, Engel, W. King, Hurko, Orest, Lunardi, Joël   +3 more
core  

Centronuclear myopathy in labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide [PDF]

, 2011
Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ~70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families ...
Christophe Hitte, G. Diane Shelton, Geneviève Aubin-Houzelstein, Inès Barthélémy, Jacques Penderis, Jean-Jacques Panthier, Jean-Laurent Thibaud, Jérôme Mary, Laurent Guillaud, Laurent Tiret, Manuel Pelé, Marie Maurer, Marilyn Fender, Natasha Olby, Reiner Albert Veitia, Stéphane Blot, Thomas Bilzer   +16 more
core   +6 more sources