Results 1 to 10 of about 3,769 (195)

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

FASEB J
Dysferlinopathy is an adult‐onset form of muscular dystrophy caused by mutations in the dysferlin gene and is inherited in an autosomal recessive manner. Dysferlin is primarily known for its role in plasma membrane repair.
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   +3 more sources

Dysferlin and the Regulation of Ca²⁺ Release in Skeletal Muscle. [PDF]

Cells
Dysferlin is a large transmembrane protein that is mutated or absent in Limb Girdle Muscular Dystrophy Type R2 (LGMD R2). Although it may have several functions in healthy skeletal muscle, most research on dysferlin has addressed its roles in repair of ...
Bloch RJ, Muriel J, Lukyanenko V.
europepmc   +4 more sources

Cryo-EM structures of the membrane repair protein dysferlin. [PDF]

Nat Commun
Plasma membrane repair in response to damage is essential for cell viability. The ferlin family protein dysferlin plays a key role in Ca2+-dependent membrane repair in striated muscles.
Huang HL, Grandinetti G, Heissler SM, Chinthalapudi K.   +3 more
europepmc   +3 more sources

Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy. [PDF]

Nat Commun
Dystrophy-associated fer-1-like protein (dysferlin) conducts plasma membrane repair. Mutations in the DYSF gene cause a panoply of genetic muscular dystrophies.
Escobar H, Di Francescantonio S, Smirnova J, Graf R, Müthel S, Marg A, Zhogov A, Krishna S, Metzler E, Petkova M, Daumke O, Kühn R, Spuler S.   +12 more
europepmc   +3 more sources

Dysferlin stabilizes membrane nanodomains of cardiomyocytes after myocardial infarction. [PDF]

Sci Rep
Despite advances in acute care medicine, myocardial infarction (MI) remains a predominant cause of premature death and heart failure. In the MI border zone, cardiomyocytes are exposed to high biomechanical stress that impairs the integrity of the ...
Wegener JB, Zühlke Y, Fleischhacker C, Marks J, Foo B, Bader N, Riedemann GC, Wedemeyer J, Vu KC, Vergel Leon AM, Paulke NJ, Kohl T, Urlaub H, Schmidt C, Hasenfuß G, Moser T, Rog-Zielinska EA, Lenz C, Lehnart SE, Brandenburg S.   +19 more
europepmc   +3 more sources

Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report. [PDF]

BMJ Neurol Open
Background Variants in the vaccinia-related kinase 1 (VRK1) gene have been linked to a spectrum of lower motor neuron disorders, typically characterised by distal muscle weakness and atrophy.
Siriniwasa H, Stirling MJL, Kean S, Pamphlett R, Silsby M.   +4 more
europepmc   +2 more sources

Dysferlin Protein-Protein Interaction Pathways in the Organ of Corti and Spiral Ganglion Intersect with Alzheimer's Protein Pathways. [PDF]

Int J Mol Sci
Dysferlin direct protein–protein interactions (PPI) previously have been elucidated with surface plasmon resonance (SPR) and predicted to underlie membrane repair in mechanotransducing myofibrils.
Drescher MJ, Drescher DG, Khan KM, Hatfield JS, Hemani D.   +4 more
europepmc   +2 more sources

High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2. [PDF]

J Cachexia Sarcopenia Muscle
Limb–girdle muscular dystrophy (MD) type R2 (LGMDR2, formerly LGMD2B) is an autosomal recessive form of MD caused by variants in the dysferlin gene, DYSF.
White Z, Rufibach L, Dressman HG, Hilsden H, Cox D, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Diaz-Manera J, Pegoraro E, Mendell JR, Jain COS Consortium, Straub V, Bernatchez P.   +21 more
europepmc   +2 more sources

Generation of a novel Dysferlin microdeletion knock-in mouse model mimicking muscular dystrophy-like pathology. [PDF]

Sci Rep
Limb-Girdle Muscular Dystrophy type R2 (LGMD-R2) is caused by mutations in the DYSFERLIN (DYSF) gene, leading to progressive muscle weakness and defective membrane repair. In our previous study, we identified a novel five-nucleotide microdeletion in DYSF
Chen YL, Lin WN, Pan PY, Ku WC, Wang P, Yip PK, Tsui KC, Wu YN, Lin YH.   +8 more
europepmc   +2 more sources

Antisense oligonucleotide-mediated exon 27 skipping restores dysferlin function in dysferlinopathy patient-derived muscle cells [PDF]

Mol Ther Nucleic Acids
Dysferlinopathies are debilitating autosomal recessive muscular dystrophies caused by mutations in the DYSF gene, encoding dysferlin, a protein crucial for sarcolemmal homeostasis and membrane resealing.
Suzuki N.
europepmc   +3 more sources