Background: Tumour-derived extracellular vesicles (EVs) play a role in tumour progression; however, the spectrum of molecular mechanisms regulating EV secretion and cargo selection remain to be fully elucidated.
Kerry L. Inder +11 more
doaj +1 more source
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. [PDF]
We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4) of whom five members had died from sudden cardiac death during their teenage years. ECG studies revealed features of long-QT syndrome, bradycardia, as well
Anna Rajab +12 more
doaj +1 more source
Revealing Cavin-2 Gene Function in Lung Based on Multi-Omics Data Analysis Method
Research points out that it is particularly important to comprehensively evaluate immune microenvironmental indicators and gene mutation characteristics to select the best treatment plan.
Changsheng Li +5 more
doaj +1 more source
BackgroundPercutaneous coronary intervention has been widely used in the treatment of ischemic heart disease, but vascular restenosis is a main limitation of percutaneous coronary intervention.
Li‐Jun Zhou +7 more
doaj +1 more source
PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis. [PDF]
Mutations in the PTRF/Cavin-1 gene cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. Additionally, long-QT syndrome and fatal cardiac arrhythmia are observed in patients with CGL4 who have homozygous PTRF/Cavin-1 ...
Takuya Taniguchi +10 more
doaj +1 more source
Cavin family proteins and the assembly of caveolae
ABSTRACT Caveolae are an abundant feature of the plasma membrane in many cells. Until recently, they were generally considered to be membrane invaginations whose formation primarily driven by integral membrane proteins called caveolins. However, the past decade has seen the emergence of the cavin family of peripheral membrane proteins as
Kovtun, Oleksiy +4 more
openaire +6 more sources
Muscular dystrophy in PTFR/cavin-1 null mice [PDF]
Mice and humans lacking the caveolae component polymerase I transcription release factor (PTRF, also known as cavin-1) exhibit lipo- and muscular dystrophy. Here we describe the molecular features underlying the muscle phenotype for PTRF/cavin-1 null mice.
Shi-Ying Ding, Libin Liu, Paul F. Pilch
openaire +2 more sources
Pleiotropic Effects of Cavin-1 Deficiency on Lipid Metabolism [PDF]
Mice and humans lacking caveolae due to gene knock-out or inactivating mutations of cavin-1/PTRF have numerous pathologies including markedly aberrant fuel metabolism, lipodystrophy, and muscular dystrophy. We characterized the physiologic/metabolic profile of cavin-1 knock-out mice and determined that they were lean because of reduced white adipose ...
Shi-Ying, Ding +5 more
openaire +2 more sources
Intermittent Hypoxia Mediates Caveolae Disassembly That Parallels Insulin Resistance Development
Repetitive complete or incomplete pharyngeal collapses are leading to chronic intermittent hypoxia (CIH), a hallmark feature of obstructive sleep apnea (OSA) syndrome responsible for many metabolic disorders.
Maider Varela-Guruceaga +7 more
doaj +1 more source
Introduction of caveolae structural proteins into the protozoan Toxoplasma results in the formation of heterologous caveolae but not caveolar endocytosis. [PDF]
Present on the plasma membrane of most metazoans, caveolae are specialized microdomains implicated in several endocytic and trafficking mechanisms. Caveolins and the more recently discovered cavins are the major protein components of caveolae.
Bao Lige +5 more
doaj +1 more source

