Results 21 to 30 of about 1,180 (165)

Myoferlin contributes to invasiveness of human T-cell leukemia virus type 1-infected T cells [PDF]

Journal of Virology
The retrovirus human T-cell leukemia virus type 1 (HTLV-1) predominantly infects CD4+ T cells in vivo. Two of the primary diseases caused by HTLV-1 infection are an aggressive leukemia designated adult T-cell leukemia (ATL) and a progressive ...
Md Abu Kawsar Sarker, Nicholas Polakowski, Camila Sagasti, Kimson Hoang, Gabriel Hugh Gibson, Isabelle Lemasson   +5 more
doaj   +2 more sources

Status quo and future developments in the diagnosis and treatment of hereditary angioedema [PDF]

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 12, Page 1512-1525, December 2025.
Summary Hereditary angioedema (HAE) is a rare hereditary disease characterized by edema, which can be life‐threatening in case of swelling in the larynx. The most common form of HAE is caused by a mutation of the SERPING1 gene and is characterized by a deficiency (type I) or loss of function (type II) of the C1 inhibitor (C1‐INH), leading to excessive ...
Andreas Recke
wiley   +2 more sources

Dysferlin and Myoferlin Regulate Transverse Tubule Formation and Glycerol Sensitivity

The American Journal of Pathology, 2014
Dysferlin is a membrane-associated protein implicated in muscular dystrophy and vesicle movement and function in muscles. The precise role of dysferlin has been debated, partly because of the mild phenotype in dysferlin-null mice (Dysf). We bred Dysf mice to mice lacking myoferlin (MKO) to generate mice lacking both myoferlin and dysferlin (FER).
Demonbreun, Alexis R., Rossi, Ann E., Alvarez, Manuel G., Swanson, Kaitlin E., Deveaux, H. Kieran, Earley, Judy U., Hadhazy, Michele, Vohra, Ravneet, Walter, Glenn A., Pytel, Peter, McNally, Elizabeth M.   +10 more
openaire   +3 more sources

Otoferlin as a multirole Ca2+ signaling protein: from inner ear synapses to cancer pathways [PDF]

Frontiers in Cellular Neuroscience, 2023
Humans have six members of the ferlin protein family: dysferlin, myoferlin, otoferlin, fer1L4, fer1L5, and fer1L6. These proteins share common features such as multiple Ca2+-binding C2 domains, FerA domains, and membrane anchoring through their single C ...
Jean-Christophe Leclère, Jean-Christophe Leclère, Didier Dulon, Didier Dulon   +3 more
doaj   +2 more sources

Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin. [PDF]

Adv Biol (Weinh), 2023
AbstractTetraspanins organize protein complexes at the cell membrane and are responsible for assembling diverse binding partners in changing cellular states. Tetraspanin CD82 is a useful cell surface marker for prospective isolation of human myogenic progenitors and its expression is decreased in Duchenne muscular dystrophy (DMD) cell lines.
Fontelonga T, Hall AJ, Brown JL, Jung YL, Alexander MS, Dominov JA, Mouly V, Vieira N, Zatz M, Vainzof M, Gussoni E.   +10 more
europepmc   +3 more sources

Myoferlin alleviates pressure overload-induced cardiac hypertrophy and dysfunction by inhibiting NLRP3-mediated pyroptosis [PDF]

PeerJ
Myoferlin (MYOF) is a muscle-derived secretory protein. Recent studies have found that MYOF protects against cell damage. However, the role of MYOF in cardiac hypertrophy remains unclear. Increasing evidence suggests that NLRP3 (NOD-like receptor protein
Yang Zhou, Yanxu Liu, Hao Luo, Cong Wen, Yangyang Cui, Linqing Du, Ofe Eugene Kwaku, Lan Li, Lijuan Xiong, Jiankang Zheng, Xuefeng Ding, Xiufeng Shen, Peng Zhou, Houxiang Hu, Rongchuan Yue   +14 more
doaj   +3 more sources

Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series [PDF]

Orphanet Journal of Rare Diseases
Data on hereditary angioedema with normal C1 inhibitor levels are currently limited. To date, only one Italian family with HAE-MYOF has been described, comprising exclusively female members.
Daria S. Fomina, Marina S. Lebedkina, Elena N. Bobrikova, Yulia D. Yukhnovskaya, Anna A. Roppelt, Olga A. Mukhina, Ulyana A. Markina, Yulia G. Alexeeva, Ekaterina A. Nikitina, Marcus Maurer, Alexander V. Karaulov, Maryana A. Lysenko, Thomas Buttgereit   +12 more
doaj   +2 more sources

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

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   +2 more sources

Structural insights into lipid membrane binding by human ferlins [PDF]

The EMBO Journal
Ferlins are ancient membrane proteins with a unique architecture, and play central roles in crucial processes that involve Ca2+-dependent vesicle fusion.
Constantin Cretu, Aleksandar Chernev, Csaba Zoltán Kibédi Szabó, Vladimir Pena, Henning Urlaub, Tobias Moser, Julia Preobraschenski   +6 more
doaj   +2 more sources

In silico analysis of the oncogenic role of myoferlin (MYOF) and suggestion of folate as a potential therapeutic for brain cancer in the Caucasian population [PDF]

Discover Oncology
Background Myoferlin (MYOF), a key gene in endocytosis, is known to be crucial for metastasis in cancer. While the involvement of MYOF as a biomarker is documented in cancer, a comprehensive study on its knockdown for targeted therapy via folate is a ...
Saanvi Muthuchetty
doaj   +2 more sources