Results 21 to 30 of about 4,375 (200)

Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene

Child Neurology Open, 2022
Dysferlinopathies are a group of phenotypically heterogeneous disorders caused by pathogenic variants in the DYSF (DYStrophy-associated Fer-1-like) gene encoding dysferlin. The phenotypic spectrum includes Miyoshi muscular dystrophy (MMD), limb-girdle muscular dystrophy type R2, distal myopathy with anterior tibial onset, and isolated hyperCKemia. MMD
Grace Bryant, Steven A. Moore, James S. Nix, Grace Rice, Murat Gokden, Aravindhan Veerapandiyan   +5 more
openaire   +2 more sources

Distinct amino acid motifs carrying multiple positive charges regulate membrane targeting of dysferlin and MG53. [PDF]

PLoS ONE, 2018
Dysferlin (Dysf) and mitsugumin53 (MG53) are two key proteins involved in membrane repair of muscle cells which are efficiently recruited to the sarcolemma upon lesioning.
Lu Zhou, Volker Middel, Markus Reischl, Uwe Strähle, G Ulrich Nienhaus   +4 more
doaj   +1 more source

Functional muscle hypertrophy by increased insulin-like growth factor 1 does not require dysferlin. [PDF]

, 2019
IntroductionDysferlin loss-of-function mutations cause muscular dystrophy, accompanied by impaired membrane repair and muscle weakness. Growth promoting strategies including insulin-like growth factor 1 (IGF-1) could provide benefit but may cause ...
Barton, Elisabeth R, Brisson, Becky K, Hammers, David W, Liu, Min, Park, SooHyun, Pham, Jennifer, Smith, Lucas R, Sweeney, H Lee, Tian, Zuozhen, Vassilakos, Georgios   +9 more
core   +1 more source

Early pathological signs in youngdysf^−/−mice are improved by halofuginone [PDF]

Neuromuscular Disorders, 2019
AbstractDysferlinopathies are a non-lethal group of late-onset muscular dystrophies. Here, we evaluated the fusion ability of primary myoblasts from youngdysf−/−mice and the muscle histopathology prior to, and during early stages of disease onset. The ability of primary myoblasts of 5-weekolddysf−/−mice to form large myotubes was delayed compared to ...
Barzilai-Tutsch, Hila, Genin, Olga, Pines, Mark, Halevy, Orna   +3 more
openaire   +2 more sources

Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. [PDF]

, 2018
Transcriptional changes in Friedreich's ataxia (FRDA), a rare and debilitating recessive Mendelian neurodegenerative disorder, have been studied in affected but inaccessible tissues-such as dorsal root ganglia, sensory neurons and cerebellum-in animal ...
Coppola, Giovanni, Dokuru, Deepika, Farmer, Jennifer, Gao, Fuying, Isaacs, Charles, Lynch, David R, Nachun, Daniel, Perlman, Susan, Sears, Renee, Strawser, Cassandra, Van Berlo, Victoria, Yang, Zhongan   +11 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

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]

, 2008
Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Achanzar, Anderson, Aroul-Selvam, Bansal, Barker, Bashir, Bateman, Berg, Bernatchez, Bravo, Britton, Brunger, Cagliani, Cagliani, Cho, Cornilescu, Couet, Davis, de Luna, Delaglio, DeLano, Doherty, Dosset, Essen, Eugen-Matthias Strehle, Flocco, Glaser, Gouet, Han, Holm, Huang, James D. Watson, Katharine Bushby, Kawabe, Krissinel, Laskowski, Lennon, Letunic, Linge, Linge, Liu, Lu, Matsuda, Matsuda, McNeil, Miyoshi, Muhandiram, Nagashima, Nalefski, Nederveen, Nguyen, Nicholas H. Keep, Ottiger, Paul C. Driscoll, Ponting, Pryank Patel, Richard Harris, Rizo, Roux, Ruckert, Rumaisa Bashir, Somers, Stella M. Geddes, Sutton, Tagawa, Takahashi, Tan, Therrien, Vranken, Yamazaki, Yasunaga   +70 more
core   +1 more source

Genetic characterization and improved genotyping of the dysferlin-deficient mouse strain Dysf tm1Kcam [PDF]

Skeletal Muscle, 2015
Mouse models of dysferlinopathies are valuable tools with which to investigate the pathomechanisms underlying these diseases and to test novel therapeutic strategies. One such mouse model is the Dysf (tm1Kcam) strain, which was generated using a targeting vector to replace a 12-kb region of the dysferlin gene and which features a progressive muscular ...
Wiktorowicz, Tatiana, Kinter, Jochen, Kobuke, Kazuhiro, Campbell, Kevin P., Sinnreich, Michael   +4 more
openaire   +3 more sources

A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing

Molecular Genetics & Genomic Medicine, 2023
Background Dysferlinopathies are autosomal recessive muscular dystrophies resulting from defects in DYSF (MIM: 603009), which is located on chromosome 2p13 and encodes the dysferlin protein. Methods We performed exome sequencing and subsequent trio‐based
Huan Li, Liang Wang, Cheng Zhang
doaj   +1 more source

Genomics Insights Into High-Latitude Adaptation of Tibetan Macaques. [PDF]

Adv Sci (Weinh)
Tibetan macaques exhibit unique adaptations to cold, high‐latitude environments, including shortened tails and enhanced fat storage. Genomic analyses reveal a species‐specific TBX6 mutation linked to tail reduction and selection on lipid metabolism genes.
Zhang R, Hu Y, Teng Y, Qi J, Ciren Y, Zhang L, Du Q, Xu W, Zhou L, Fan Z, Xing J, Li M, Li J.   +12 more
europepmc   +2 more sources