Recurrent angioedema manifestation and treatment response in two patients from different families caring the myoferlin gene mutation: case series [PDF]
Orphanet Journal of Rare DiseasesData 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 +12 more
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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 +2 more
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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 OncologyBackground 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
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Structural insights into lipid membrane binding by human ferlins [PDF]
The EMBO JournalFerlins are ancient membrane proteins with a unique architecture, and play central roles in crucial processes that involve Ca2+-dependent vesicle fusion.
Constantin Cretu +6 more
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Lysosomal Repair in Health and Disease. [PDF]
J Cell PhysiolLysosomes 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.
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Myoferlin alleviates pressure overload-induced cardiac hypertrophy and dysfunction by inhibiting NLRP3-mediated pyroptosis [PDF]
PeerJMyoferlin (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 +14 more
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c-Met and EPHA7 Receptor Tyrosine Kinases Are Related to Prognosis in Clear Cell Renal Cell Carcinoma: Focusing on the Association with Myoferlin Expression. [PDF]
Cancers (Basel), 2022 Receptor tyrosine kinases (RTKs) are important targets for clear cell renal cell carcinoma (ccRCC) treatment. Myoferlin is a strong regulator of RTKs. To identify myoferlin-associated RTKs and their prognostic implications in ccRCC, we investigated the ...
Jung M, Lee S, Moon KC.
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Managing Diagnosis, Treatment, and Burden of Disease in Hereditary Angioedema Patients with Normal C1-Esterase Inhibitor [PDF]
Journal of Asthma and Allergy, 2023 Douglas Jones,1 Heidi Zafra,2 John Anderson3 1Rocky Mountain Allergy, Tanner Clinic, Layton, UT, USA; 2Division of Allergy and Clinical Immunology, Medical College of Wisconsin, Milwaukee, WI, USA; 3AllerVie Health, Birmingham, AL, USACorrespondence ...
Jones D, Zafra H, Anderson J
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Correction: Human colon cancer cells highly express myoferlin to maintain a fit mitochondrial network and escape p53-driven apoptosis [PDF]
Oncogenesis, 2023 Gilles Rademaker +11 more
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Myoferlin Expression and Its Correlation with FIGO Histologic Grading in Early-Stage Endometrioid Carcinoma [PDF]
Journal of Pathology and Translational Medicine, 2018 Background For endometrioid carcinoma patients, International Federation of Gynecologists and Obstetricians (FIGO) histologic grading is very important for identifying the appropriate treatment method.
Min Hye Kim +8 more
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