Results 51 to 60 of about 3,769 (195)

Dysferlin Regulates Cell Adhesion in Human Monocytes [PDF]

Journal of Biological Chemistry, 2013
Dysferlin is mutated in a group of muscular dystrophies commonly referred to as dysferlinopathies. It is highly expressed in skeletal muscle, where it is important for sarcolemmal maintenance. Recent studies show that dysferlin is also expressed in monocytes.
Morree, A. de, Flix, B., Bagaric, I., Wang, J., Boogaard, M. van den, Moursel, L.G., Frants, R.R., Illa, I., Gallardo, E., Toes, R., Maarel, S.M. van der   +10 more
openaire   +4 more sources

DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B

Molecular Therapy: Methods & Clinical Development, 2017
Mutations in the gene for dysferlin cause a degenerative disorder of skeletal muscle known as limb girdle muscular dystrophy 2B. To achieve gene delivery of plasmids encoding dysferlin to hind limb muscles of dysferlin knockout mice, we used a vascular ...
Julia Ma, Christophe Pichavant, Haley du Bois, Mital Bhakta, Michele P. Calos   +4 more
doaj   +1 more source

Mechanisms of Endothelial Cell Membrane Repair: Progress and Perspectives

Cells, 2023
Endothelial cells are the crucial inner lining of blood vessels, which are pivotal in vascular homeostasis and integrity. However, these cells are perpetually subjected to a myriad of mechanical, chemical, and biological stresses that can compromise ...
Duoduo Zha, Shizhen Wang, Paula Monaghan-Nichols, Yisong Qian, Venkatesh Sampath, Mingui Fu   +5 more
doaj   +1 more source

High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil

Current Genomics, 2023
Background Dysferlinopathies represent a group of limb girdle or distal muscular dystrophies with an autosomal-recessive inheritance pattern resulting from the presence of pathogenic variants in the dysferlin gene (DYSF).
I. A. Motta, M. A. Gouveia, Ana Karolina Paiva Braga, R. Andrade, Mayra F.F. Montenegro, S. N. Gurgel, Keila M.F. Albuquerque, Priscilla A.N.G. Souto, Flávia P.B.F. Cardoso, J. S. Araujo, Mirella C.L. Pinheiro, C. E. D. da Silva, Pamella A.S. Gurgel, David Feder, M. Perez, G. D. da Veiga, B. C. Alves, F. Fonseca, Alzira Alves de Siqueira Carvalho   +18 more
semanticscholar   +1 more source

Proper Voltage-Dependent Ion Channel Function in Dysferlin-Deficient Cardiomyocytes

Cellular Physiology and Biochemistry, 2015
Background/Aims: Dysferlin plays a decisive role in calcium-dependent membrane repair in myocytes. Mutations in the encoding DYSF gene cause a number of myopathies, e.g. limb-girdle muscular dystrophy type 2B (LGMD2B).
Lena Rubi, Vaibhavkumar S. Gawali, Helmut Kubista, Hannes Todt, Karlheinz Hilber, Xaver Koenig   +5 more
doaj   +1 more source

Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes

BMC Musculoskeletal Disorders, 2020
Background Dysferlinopathies are a group of muscle disorders causing muscle weakness and absence or low levels of dysferlin, a type-II transmembrane protein and the causative gene of these dystrophies.
Esther Fernández-Simón, Cinta Lleixà, Xavier Suarez-Calvet, Jordi Diaz-Manera, Isabel Illa, Eduard Gallardo, Noemí de Luna   +6 more
doaj   +1 more source

The C2 domains of dysferlin: roles in membrane localization, Ca2+ signalling and sarcolemmal repair

Journal of Physiology, 2022
Dysferlin is an integral membrane protein of the transverse tubules of skeletal muscle that is mutated or absent in limb girdle muscular dystrophy 2B and Miyoshi myopathy.
J. Muriel, V. Lukyanenko, T. Kwiatkowski, Sayak Bhattacharya, D. Garman, N. Weisleder, R. Bloch   +6 more
semanticscholar   +1 more source

Placental Dysferlin Expression is Reduced in Severe Preeclampsia [PDF]

Placenta, 2009
Dysferlin (DYSF) and myoferlin (MYOF), members of the ferlin family of membrane proteins, are co-expressed in human placental syncytiotrophoblast (STB). Although the role of these ferlin proteins in the placenta has yet to be established, it has been suggested that DYSF and MYOF may contribute to the stability of the apical STB plasma membrane.
C T, Lang, K B, Markham, N J, Behrendt, A A, Suarez, P, Samuels, D D, Vandre, J M, Robinson, W E, Ackerman   +7 more
openaire   +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 ...
O. Ballouhey, Marie Chapoton, Benedicte Alary, S. Courrier, N. Da Silva, M. Krahn, N. Lévy, N. Weisleder, Marcello Bartoli   +8 more
semanticscholar   +1 more source

Secreted acid sphingomyelinase as a potential gene therapy for limb girdle muscular dystrophy 2B

The Journal of Clinical Investigation, 2022
Efficient sarcolemmal repair is required for muscle cell survival, with deficits in this process leading to muscle degeneration. Lack of the sarcolemmal protein dysferlin impairs sarcolemmal repair by reducing secretion of the enzyme acid ...
Daniel C. Bittel, Sen Chandra Sreetama, Goutam Chandra, Robin Ziegler, Kanneboyina Nagaraju, Jack H. Van der Meulen, Jyoti K. Jaiswal   +6 more
doaj   +1 more source