Results 31 to 40 of about 1,281 (134)

Characterization Analysis of Schistosoma japonicum Plasma Membrane Repair Relative Gene Myoferlin. [PDF]

PLoS ONE, 2013
Myoferlin is a member of the ferlin family of proteins, which are involved in plasma membrane repair, and has been identified as one of the tegument proteins of Schistosoma japonicum.
Yanian Xiong, Ming Zhang, Yang Hong, Meimei Wei, Dezhou Ai, Peipei Meng, Yanhui Han, Zhiqiang Fu, Yaojun Shi, Jianmei Yang, Jiaojiao Lin   +10 more
doaj   +1 more source

HBZ upregulates myoferlin expression to facilitate HTLV-1 infection.

PLoS Pathogens, 2023
The complex retrovirus, human T-cell leukemia virus type 1 (HTLV-1), primarily infects CD4+ T-cells in vivo. Infectious spread within this cell population requires direct contact between virally-infected and target cells.
Nicholas Polakowski, Md Abu Kawsar Sarker, Kimson Hoang, Georgina Boateng, Amanda W Rushing, Wesley Kendle, Claudine Pique, Patrick L Green, Amanda R Panfil, Isabelle Lemasson   +9 more
doaj   +1 more source

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

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

Lysosomal Repair in Health and Disease. [PDF]

J Cell Physiol
Lysosomes are essential for cellular stress clearance and overall organismal health. Lysosomal membrane damage is tightly linked to various pathologies, including aging, neurodegeneration, lysosomal storage disorders, and cardiovascular disease.
Xun J, Tan JX.
europepmc   +2 more sources

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

Redefining the architecture of ferlin proteins: Insights into multi-domain protein structure and function.

PLoS ONE, 2022
Ferlins are complex, multi-domain proteins, involved in membrane trafficking, membrane repair, and exocytosis. The large size of ferlin proteins and the lack of consensus regarding domain boundaries have slowed progress in understanding molecular-level ...
Matthew J Dominguez, Jon J McCord, R Bryan Sutton   +2 more
doaj   +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

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

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