Introduction: Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in the glomerular podocyte, rendering SRNS a "podocytopathy."
Methods: We performed whole-exome sequencing (WES) in 1200 nephrotic syndrome (NS) patients.
Results: We discovered homozygous truncating and homozygous missense mutation in (synaptopodin-2) (p.
From lifeless viral particles to complex multicellular organisms, membrane fusion is inarguably the important fundamental biological phenomena. Sitting at the heart of membrane fusion are protein mediators known as fusogens. Despite the extensive functional and structural characterization of these proteins in recent years, scientists are still grappling with the fundamental mechanisms underlying membrane fusion.
View Article and Find Full Text PDFCancer stem-like cells (CSCs), a small population of pluripotent cells residing within heterogeneous tumor mass, remain highly resistant to various chemotherapies as compared to the differentiated cancer cells. It is being postulated that CSCs possess unique molecular mechanisms, such as autophagic homeostasis, that allow CSCs to withstand the therapeutic assaults. Here we demonstrate that HDAC6 inhibition differentially modulates macroautophagy/autophagy in CSCs as compared to that of differentiated cancer cells.
View Article and Find Full Text PDFMuscle-forming myotubes are formed from the cell-cell fusion of myoblasts. In this issue of Developmental Cell, Leikina et al. (2018) provide compelling evidence that myoblast fusion is dependent on a two-component membrane fusion complex of Myomaker and Myomerger, which function in hemifusion and pore formation activity, respectively.
View Article and Find Full Text PDFThe promyelocytic leukemia protein (PML) is expressed in most normal human tissues and forms nuclear bodies (NBs) that have roles in gene regulation and cellular processes such as DNA repair, cell cycle control, and cell fate decisions. Using murine C2C12 myoblasts, we demonstrate that activation of skeletal muscle differentiation results in loss of PML and PML NBs prior to myotube fusion. Myotube formation was associated with marked chromatin reorganization and the relocalization of DAXX from PML NBs to chromocentres.
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