Results 81 to 90 of about 31,110 (115)

R405W Desmin Knock‐In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy

Journal of Cachexia, Sarcopenia and Muscle
Background Mutations in the desmin gene cause skeletal myopathies and cardiomyopathies. The objective of this study was to elucidate the molecular pathology induced by the expression of R405W mutant desmin in murine skeletal muscle.
Sabrina Batonnet‐Pichon, Florence Delort, Alain Lilienbaum, Carolin Berwanger, Dorothea Schultheis, Ursula Schlötzer‐Schrehardt, Andreas Schmidt, Steffen Uebe, Yosra Baiche, Tom J. Eisenack, Débora Broch Trentini, Markus Mallek, Leonid Mill, Ana Ferreiro, Bettina Eberhard, Thomas Lücke, Markus Krüger, Christian Thiel, Rolf Schröder, Christoph S. Clemen   +19 more
doaj   +1 more source

Orphan disease: features of difficult to diagnose and genetically verified muscular dystrophy based on DNA sequencing results (clinical case)

Acta Biomedica Scientifica
Currently, orphan diseases are rarely diagnosed due to low patient awareness, heterogeneity of symptoms, low publication activity of specialists who may encounter orphan pathology, and limited availability of molecular genetic technologies for verifying ...
Yu. I. Kotsenko
doaj   +1 more source

A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report

BMC Neurology, 2019
Background Myofibrillar myopathies (MFMs) are a genetically heterogeneous group of muscle disorders. Mutations in the filamin C gene (FLNC) have previously been identified in patients with MFM. The phenotypes of FLNC-related MFM are heterogeneous.
Juanjuan Chen, Jun Wu, Chunxi Han, Yao Li, Yuzu Guo, Xiaoxin Tong   +5 more
doaj   +1 more source

Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier

Frontiers in Genetics
Desmin-related myofibrillar myopathy is a hereditary disorder caused by pathogenic variants in the DES gene (MIM*125660), altering desmin, a muscle-specific intermediate filament which is crucial for sarcomere integrity.
Jelle Vlaeminck, Sophie Uyttebroeck, Elke De Schutter, Ann Cordenier, Shauni Wellekens, Erwin Ströker, Kelly De Rooms, Christine Helsen, Frederik J. Hes, Philippe Giron   +9 more
doaj   +1 more source

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

, 2016
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle.
Stojkovic, Tanya, Bönnemann, Carsten G., Hu, Ying, Talim, Beril, Sanjuan-Vazquez, Tvlyriam, Cummings, Beryl B., Cooper, Sandra T., Clarke, Nigel F., O’grady, Gina L., Joshi, Himanshu, Ing, Viola Oorschot, Ruparelia, Avnika A., Sanjuan-Vazquez, Myriam, Ilkovski, Biljana, Waddell, Leigh B., Ardicli, Didem, Best, Heather A., Sztal, Tamar E., Deleuze, Jean-François, O'Grady, Gina L., Boland, Anne, Macarthur, Daniel G., Topaloglu, Haluk, Nectoux, Juliette, Tukiainen, Tam, Abath Neto, Osorio, Friant, Sylvie, Nowak, Kristen J., North, Kathryn N., Donkervoort, Sandra, Maisonobe, Thierry, Lek, Monkol, Brammah, Susan, Laing, Nigel G., Dastgir, Jahannaz, Williams, Caitlin, Sutton, Roger Bryan, Romero, Norma Beatriz, Reddel, Stephen W., Bryson-Richardson, Robert J., Schartner, Vanessa, Laporte, Jocelyn, Peduto, Anthony J., Neto, Osorio Abath, Tukiainen, Taru, Ramm, Georg   +45 more
core   +1 more source

Assessment of myogenic potency in patient-derived fibroblasts with c.1289-2A>G Desmin mutation

Türk Biyokimya Dergisi
The ultra-rare DES c.1289-2A>G mutation, resulting in a 48-base pair insertion in the Desmin tail domain, is associated with late-onset MFM1 (myofibrillar myopathy-1; OMIM number; 601419) and exhibits distinctive pathological features.
Düz Nilüfer, Ünsal Şeyda, Eerdem-Özdamar Sevim, Dinçer Pervin   +3 more
doaj   +1 more source

Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene

Stem Cell Research
Myofibrillar myopathy (MFM) is a rare genetic disorder characterized by muscular dystrophy that is often associated with cardiac disease. This disease is caused by mutations in several genes, among them DES (encoding desmin) is the most frequently ...
Pierre Joanne, Yeranuhi Hovhannisyan, Alexandre Simon, Gaëlle Revet, Romain Diot, Gabriel Friob, Denisa Calin, Zhenlin Li, Anthony Béhin, Karim Wahbi, Gérard Tachdjian, Onnik Agbulut   +11 more
doaj   +1 more source

Generation of human induced pluripotent stem cell (iPSC) lines from two patients with BAG3 P209L myofibrillar myopathy-6

Stem Cell Research
As member of the chaperone-assisted selective autophagy (CASA) complex, BAG3 is important for the turnover of muscle proteins. Patients with a point mutation at position 626 in the BAG3 gene (p.P209L, c.626C>T, Chr.10q26) suffer from polyneuropathy and ...
Kerstin Filippi, Martin Wiemann, Stefan Rupp, Michael Peitz, Bernd K. Fleischmann, Michael Hesse   +5 more
doaj   +1 more source

Generation of an isogenic series of genome-edited hiPSC lines with the BAG3P209L-mutation for modeling myofibrillar myopathy 6

Stem Cell Research
BAG3 contributes to the maintenance of proteostasis through chaperone-assisted selective autophagy. This function is impaired by a single amino acid exchange (P209L) in the protein, which causes myofibrillar myopathy-6 (MFM6).
Isabelle Riße, Kerstin Filippi, Martin Wiemann, Bernd K. Fleischmann, Michael Hesse   +4 more
doaj   +1 more source

Novel TRIM32 mutation in sarcotubular myopathy

, 2019
Tripartite motif-containing protein 32 (TRIM32) is a member of the TRIM ubiquitin E3 ligases which ubiquitinates different substrates in muscle including sarcomeric proteins. Mutations in TRIM32 are associated with Limb-Girdle Muscular Dystrophy 2H. In a
Panicucci, Chiara, Zara, Federico, Traverso, Monica, Tagliafico, Alberto, Baratto, Serena, Bruno, Claudio, Romeo, Chiara, Fiorillo, Chiara., Gemelli, Chiara, Broda, Paolo, Iacomino, Michele, Minetti, Carlo   +11 more
core   +1 more source