Results 21 to 30 of about 2,976 (183)

Proteinfehlfaltung als Ursache der Muskeldystrophie Dysferlinopathie: Das Mausmodell Dysf-MMex38 [PDF]

, 2018
Ziel der Arbeit war die Charakterisierung des neu generierten MMex38-Mausmodells. Dieses stellt das erste Tiermodell für die Gliedergürtelmuskeldystrophie Dysferlinopathie dar, bei der die Erkrankung durch eine Missense-Mutation und Proteinfehlfaltung ...
Heidt, Leonie Victoria
core   +2 more sources

Assessment of physiological parameters in the application of a double adeno-associated virus 9 with a codon-optimized DYSF gene for limb girdle muscular dystrophy type R2 [PDF]

Research Results in Pharmacology
Introduction: Gene therapy for Myoshi myopathy is extremely relevant, as it may become the first pathogenetic treatment for dysferlinopathy. The aim of this study was to study the efficacy and safety of the use of a genetic construct, the AAV9-DYSF-DV3 ...
Elеna V. Kuzubova, Alexandra I. Radchenko, Andrey А. Manuylov, Ariana M. Korokina, Natalia V. Koroleva, Ivan A. Yakovlev, Arthur A. Isaev, Roman V. Deev, Mikhail V. Korokin   +8 more
doaj   +2 more sources

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy. [PDF]

Proteomics
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Dowling P, Bouragba D, Negroni E, Trollet C, Zweyer M, Swandulla D, Ohlendieck K.   +6 more
europepmc   +2 more sources

A Novel Dysferlin-Binding Kinase CK2α Promotes Plasma Membrane Repair in Dysferlinopathy. [PDF]

FASEB J
When the cell membrane is injured, extracellular calcium enters the cell, triggering the accumulation of dysferlin at the lesion site. In the presence of dysferlin, CK2 is efficiently recruited to the damaged membrane and maintains its kinase activity through interaction with dysferlin.
Nakamura N, Suzuki N, Kanno SI, Yamanaka R, Ono H, Izumi R, Muliang R, Borgo C, Ohno A, Harada R, Saito S, Funayama Y, Ikeda K, Mitsuzawa S, Watanabe Y, Shijo T, Akiyama T, Takahashi T, Kanzaki M, Osana S, Warita H, Aoki Y, Ebihara S, Salvi M, Nagatomi R, Yasui A, Miyake K, Aoki M.   +27 more
europepmc   +2 more sources

A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy

Biomedicines, 2023
Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf gene locus ...
Océane Ballouhey, Marie Chapoton, Benedicte Alary, Sébastien Courrier, Nathalie Da Silva, Martin Krahn, Nicolas Lévy, Noah Weisleder, Marc Bartoli   +8 more
doaj   +1 more source

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy

Physiological Reports, 2023
Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb‐girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles.
Yen‐Lin Chen, Wen‐Bin Wu, Pei Wang, Ping‐Keung Yip, Yi‐No Wu, Ying‐Hung Lin, Wei‐Ning Lin   +6 more
doaj   +1 more source

Dysregulation of testis mRNA expression levels in hatchery-produced vs wild greater amberjack Seriola dumerili

Scientific Reports, 2023
Reproductive dysfunctions have been recently documented in male greater amberjack Seriola dumerili caught from the wild and reared in captivity. In the present study, we compared testis transcriptome in wild fish (WILD), hatchery-produced fish with ...
Anna Lavecchia, Caterina Manzari, Chrysovalentinos Pousis, Luigi Mansi, Sharon N. Cox, Constantinos C. Mylonas, Rosa Zupa, Claudio Lo Giudice, Caterina De Virgilio, Ernesto Picardi, Gianluca Ventriglia, Graziano Pesole, Aldo Corriero   +12 more
doaj   +1 more source

4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations

iScience, 2022
Summary: Dysferlinopathies are muscular dystrophies caused by recessive loss-of-function mutations in dysferlin (DYSF), a membrane protein involved in skeletal muscle membrane repair.
Kana Tominaga, Naoomi Tominaga, Eric O. Williams, Laura Rufibach, Verena Schöwel, Simone Spuler, Mohan Viswanathan, Leonard P. Guarente   +7 more
doaj   +1 more source

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

Neuromuscular Disorders, 2019
Abstract Dysferlinopathies are a non-lethal group of late-onset muscular dystrophies. Here, we evaluated the fusion ability of primary myoblasts from young dysf −/− mice and the muscle histopathology prior to, and during ...
Barzilai-Tutsch, Hila, Genin, Olga, Pines, Mark, Halevy, Orna   +3 more
openaire   +2 more sources

Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

, 2022
\ua9 2022 British Neuropathological Society. Aims: Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi-allelic variants in the gene encoding dysferlin (DYSF).
Trajanoski D, Hayhurst H, Guglieri M, Barresi R, Davis MR, Schaefer AM, Botero Gomez A, Johnsen R, Lamont PJ, Ravenscroft G, Laing NG, Moore U, Straub V, Folland C   +13 more
core   +4 more sources