Results 51 to 60 of about 1,440 (186)

Exon Skipping in a Dysf-Missense Mutant Mouse Model

Molecular Therapy: Nucleic Acids, 2018
Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and
Jakub Malcher, Leonie Heidt, Aurélie Goyenvalle, Helena Escobar, Andreas Marg, Cyriaque Beley, Rachid Benchaouir, Michael Bader, Simone Spuler, Luis García, Verena Schöwel   +10 more
doaj   +1 more source

Functions of Vertebrate Ferlins

Cells, 2020
Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6
Anna V. Bulankina, Sven Thoms
doaj   +1 more source

Data_Sheet_3_Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and in vivo validation.PDF [PDF]

, 2022
BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077), Feng Xiao (27219), Jia-ying Bai (13825660), Chun-yan Zhu (565275), Yan Xie (41714), Li Zeng (77324), Song Tan (798605), Kai Chen (129938)   +7 more
core   +1 more source

A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene

Frontiers in Neurology, 2023
We report the case of a 31-year-old Chinese woman with a chief complaint of weakness in the lower limbs, which was diagnosed as limb-girdle muscular dystrophy 2B (LGMD2B) with compound heterozygous mutations of the DYSF gene.
Xiaojie Cao, Li Zeng, Zhijie Lu, Jin Fan, Song Tan, Mingjie Zhang, Zegang Yin   +6 more
doaj   +1 more source

Magnetic resonance imaging pattern variability in dysferlinopathy [PDF]

, 2021
The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy.
Isaev A.A., Kurbatov S.A., Berezhnaya E.N., Zheleznyak I.S., Titova A.A., Umakhanova Z.R., A Yakovlev I., Nikitin S.S., Bardakov S.N., Tsargush V.A., Deev R.V., Carlier P.G., Akhmedova P.G., Emelyantsev A.A., Magomedova R.M.   +14 more
core  

Effects of Prednisone on a Patient with Dysferlinopathy Assessed by Maximal Voluntary Isometric Contraction: Alternate-Day Low-Dose Administration for a 17-Year Period

Case Reports in Neurology, 2019
Glucocorticoids are candidates for the pharmacological treatment of dysferlinopathy. Deflazacort, however, showed a worse effect on muscle strength than placebo.
Keiichi Takahashi
doaj   +1 more source

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

Frontiers in Neurology, 2020
Practice of sports during childhood or adolescence correlates with an earlier onset and more rapidly progressing phenotype in dysferlinopathies. To determine if this correlation relates to greater muscle pathology that persists into adulthood, we ...
Ursula Moore, Marni Jacobs, Marni Jacobs, Roberto Fernandez-Torron, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera, Jordi Diaz-Manera, Jordi Diaz-Manera   +30 more
doaj   +1 more source

Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation

Molecular Therapy: Methods & Clinical Development, 2021
Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo, Eun Kyoung Kim, Jaeil Choi, Dae-Seong Kim, Jin-Hong Shin   +4 more
doaj   +1 more source

Thrombospondin-1 and disease progression in dysferlinopathy [PDF]

Human Molecular Genetics, 2017
The purpose of this study was to determine whether thrombospondin (TSP)-1 promotes macrophage activity and disease progression in dysferlinopathy. First, we found that levels of TSP-1 are elevated in blood of non-ambulant dysferlinopathy patients compared with ambulant patients and healthy controls, supporting the idea that TSP-1 levels are correlated ...
Norifumi Urao, Rita E Mirza, Thomas F Corbiere, Zsuzsanna Hollander, Christoph H Borchers, Timothy J Koh   +5 more
openaire   +2 more sources

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 more
europepmc   +2 more sources