Results 51 to 60 of about 1,181 (166)

Characterization of the Myoferlin transgenic mice. A [PDF]

, 2012
/Schematic representation of the Myof construct and Hprt targeted allele. B/Quantitative RT-PCR for myoferlin expression in muscles of WT and TgMyof revealed a 200-fold greater expression in the transgenic.
Carinne Roudaut (162223), William Lostal (162211), Laurence Suel (162256), Daniel Stockholm (25425), Martin Krahn (162235), Rumaisa Bashir (162275), Marina Pryadkina (162240), Nicolas Levy (1708774), Marc Bartoli (162219), Robert J. Bloch (162268), Isabelle Richard (162281), Perrine Borel (162248), Joseph A. Roche (162262), Nathalie Bourg (162229)   +13 more
core   +1 more source

The Endocytic Recycling Protein EHD2 Interacts with Myoferlin to Regulate Myoblast Fusion [PDF]

Journal of Biological Chemistry, 2008
Skeletal muscle is a multinucleated syncytium that develops and is maintained by the fusion of myoblasts to the syncytium. Myoblast fusion involves the regulated coalescence of two apposed membranes. Myoferlin is a membrane-anchored, multiple C2 domain-containing protein that is highly expressed in fusing myoblasts and required for efficient myoblast ...
Katherine R, Doherty, Alexis R, Demonbreun, Gregory Q, Wallace, Andrew, Cave, Avery D, Posey, Konstantina, Heretis, Peter, Pytel, Elizabeth M, McNally   +7 more
openaire   +2 more sources

A Novel Homozygous Abnormal Splice Variant in the Myoferlin Gene Leading to Floppy Infant Syndrome in a Saudi Family

Journal of Disability Research, 2023
Myoferlin (MYOF) (OMIM#604603) is a type II membrane protein that belongs to the ferlin family, which is expressed in cardiac and skeletal muscles. This protein has seven C2 domains that mediate calcium-dependent membrane fusion events and membrane ...
Angham Abdulrahman Abdulkareem, Bader H. Shirah, Osama Yousef Muthaffar, Hala Abubaker Bagabir, Muhammad Imran Naseer   +4 more
doaj   +1 more source

O11: MYOFERLIN: A NOVEL BIOMARKER OF RADIOSENSITIVITY IN LOCALLY ADVANCED RECTAL CANCER [PDF]

British Journal of Surgery, 2021
Abstract Introduction Our proteomic data has validated that high levels of the protein myoferlin confers poorer response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer. Myoferlin plays a role in membrane repair and VEGF signal transduction, and is associated with worse prognosis in
H Fowler, P Sutton, D Bowden, J Parsons, D Vimalachandran   +4 more
openaire   +1 more source

Ferlin Overview: From Membrane to Cancer Biology

Cells, 2019
In mammal myocytes, endothelial cells and inner ear cells, ferlins are proteins involved in membrane processes such as fusion, recycling, endo- and exocytosis. They harbour several C2 domains allowing their interaction with phospholipids.
Olivier Peulen, Gilles Rademaker, Sandy Anania, Andrei Turtoi, Akeila Bellahcène, Vincent Castronovo   +5 more
doaj   +1 more source

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy.

PLoS ONE, 2012
Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing, leading to the idea that the pathophysiology of dysferlin deficiencies is ...
William Lostal, Marc Bartoli, Carinne Roudaut, Nathalie Bourg, Martin Krahn, Marina Pryadkina, Perrine Borel, Laurence Suel, Joseph A Roche, Daniel Stockholm, Robert J Bloch, Nicolas Levy, Rumaisa Bashir, Isabelle Richard   +13 more
doaj   +1 more source

The C2 Domains of Otoferlin, Dysferlin, and Myoferlin Alter the Packing of Lipid Bilayers [PDF]

Biochemistry, 2013
Ferlins are large multi-C2 domain membrane proteins involved in membrane fusion and fission events. In this study, we investigate the effects of binding of the C2 domains of otoferlin, dysferlin, and myoferlin on the structure of lipid bilayers. Fluorescence measurements indicate that multi-C2 domain constructs of myoferlin, dysferlin, and otoferlin ...
Naomi J, Marty, Chelsea L, Holman, Nazish, Abdullah, Colin P, Johnson   +3 more
openaire   +2 more sources

Myoferlin regulates cellular lipid metabolism and promotes metastases in triple-negative breast cancer [PDF]

, 2016
peer reviewedMyoferlin is a multiple C2-domain-containing protein that regulates membrane repair, tyrosine kinase receptor function and endocytosis in myoblasts and endothelial cells.
De Pauw, Edwin, Turtoi, Andrei, Le Goff, Caroline, Cavalier, E, Castronovo, V., Hirano, T, Goldman, S, Lifrange, E, Blomme, Adrien, Cusumano, P G, Doumont, G, Di Valentin, Emmanuel, Costanza, Brunella, Bellahcene, Akeila, Di Valentin, E, Muller, RN, Yokobori, T, Delvenne, P, Le Goff, Carine, Van Simaeys, Gaëtan, Boutry, S, De Tullio, Pascal, Costanza, B, Boutry, Sébastien, Doumont, Gilles, Blomme, Arnaud, Delvenne, Philippe, Sherer, F, Mouithys-Mickalad, Ange, Cavalier, Etienne, LIFRANGE, Eric, Goldman, Serge, Peulen, Olivier, Sherer, Félicie, Jouret, François, Thiry, M., Thiry, Marc, Castronovo, Vincenzo, GOFFLOT, Stéphanie, Muller, Robert N, De Pauw, E, Van Simaeys, G, Nishiyama, M, CUSUMANO, Giuseppe   +43 more
core   +3 more sources

Myoferlin controls mitochondrial structure and activity in pancreatic ductal adenocarcinoma, and affects tumor aggressiveness [PDF]

, 2018
peer reviewedPancreatic ductal adenocarcinoma (PDAC) is the third leading cause of cancer-related death. Therapeutic options remain very limited and are based on classical chemotherapies. Energy metabolism reprogramming appears as an emerging hallmark of
Lucien Bettendorff, Vincent Hennequière, Costanza, Brunella, Bellahcene, Akeila, Akeila Bellahcène, Christophe Deroanne, Laura Brohée, Nokin, Marie-Julie, Herfs, Michael, Bellier, Justine, Michael Herfs, Raphael Peiffer, Roland Hustinx, Marc Thiry, Vincent Castronovo, Durieux, Florence, Philippe Delvenne, Delvenne, Philippe, Bettendorff, Lucien, Peulen, Olivier, Florence Durieux, Hennequière, Vincent, LOVINFOSSE, Pierre, Marie-Julie Nokin, Thiry, Marc, Castronovo, Vincenzo, Peiffer, Raphaël, Hustinx, Roland, GOFFLOT, Stéphanie, Pierre Lovinfosse, Justine Bellier, Brunella Costanza, Deroanne, Christophe, Brohée, Laura, Gilles Rademaker, Rademaker, Gilles, Olivier Peulen, Stéphanie Gofflot   +37 more
core   +1 more source

Biochemistry, molecular genetics, and clinical aspects of hereditary angioedema with and without C1 inhibitor deficiency

Allergology International, 2023
Hereditary angioedema (HAE) is a rare disorder characterized by cutaneous and submucosal swelling caused mostly by excessive local bradykinin production.
Toshiyuki Miyata, Takahiko Horiuchi
doaj   +1 more source