Results 51 to 60 of about 1,180 (165)

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

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

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

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

Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity. [PDF]

PLoS ONE, 2010
Dysferlin is critical for repair of muscle membranes after damage. Mutations in dysferlin lead to a progressive muscular dystrophy. Recent studies suggest additional roles for dysferlin.
Antoine de Morrée, Paul J Hensbergen, Herman H H B M van Haagen, Irina Dragan, André M Deelder, Peter A C 't Hoen, Rune R Frants, Silvère M van der Maarel   +7 more
doaj   +1 more source

Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy

Frontiers in Genetics, 2019
Even though genetic studies of individuals with neuromuscular diseases have uncovered the molecular background of many cardiac disorders such as cardiomyopathies and inherited arrhythmic syndromes, the genetic cause of a proportion of cardiomyopathies ...
Artem Kiselev, Raquel Vaz, Anastasia Knyazeva, Alexey Sergushichev, Renata Dmitrieva, Aleksandr Khudiakov, John Jorholt, Natalia Smolina, Natalia Smolina, Ksenia Sukhareva, Yulia Fomicheva, Evgeny Mikhaylov, Lubov Mitrofanova, Alexander Predeus, Alexander Predeus, Gunnar Sjoberg, Dmitriy Rudenko, Thomas Sejersen, Anna Lindstrand, Anna Lindstrand, Anna Kostareva, Anna Kostareva   +21 more
doaj   +1 more source

Coupling of Cell Surface Biotinylation and SILAC-Based Quantitative Proteomics Identified Myoferlin as a Potential Therapeutic Target for Nasopharyngeal Carcinoma Metastasis

Frontiers in Cell and Developmental Biology, 2021
Distant metastasis is a major cause of treatment failure in nasopharyngeal carcinoma (NPC) patients. Cell surface proteins represent attractive targets for cancer diagnosis or therapy. However, the cell surface proteins associated with NPC metastasis are
Maoyu Li, Maoyu Li, Fang Peng, Guoqiang Wang, Xujun Liang, Meiying Shao, Zhuchu Chen, Zhuchu Chen, Yongheng Chen, Yongheng Chen, Yongheng Chen   +10 more
doaj   +1 more source

Prognostic role of myoferlin expression in patients with clear cell renal cell carcinoma [PDF]

Oncotarget, 2017
In patients with cancer, myoferlin protein hyperexpression has been correlated with poor patient prognosis. Here, we evaluated myoferlin expression in patients with clear cell renal cell carcinoma (ccRCC) and investigated the prognostic significance of myoferlin expression in these patients.One hundred and fifty-two patients with ccRCC who underwent ...
Song, Dae Hyun, Ko, Gyung Hyuck, Lee, Jeong Hee, Lee, Jong Sil, Yang, Jung Wook, Kim, Min Hye, An, Hyo Jung, Kang, Myoung Hee, Jeon, Kyung Nyeo, Kim, Dong Chul   +9 more
openaire   +2 more sources