806 A circulus vitiosus causes loss of proteostasis in Cockayne syndrome
نویسندگان
چکیده
منابع مشابه
Latent ischaemia as a trigger for a circulus vitiosus of inflammation, fibrosis, and stiffness in HFPEF.
Heart failure (HF) is defined as the inability of the left ventricle to generate an adequate cardiac output at physiological filling pressures. When HF starts from myocardial damage and loss of cardiomyocytes, the left ventricle will undergo dilatative remodelling with a progressive reduction of EF (HFREF) and subsequent systemic neurohumoral activation. However, almost 50% of clinical HF cases...
متن کاملConceptual developments in the causes of Cockayne syndrome.
Cockayne syndrome is an autosomal recessive disease that covers a wide range of symptoms, from mild photosensitivity to severe neonatal lethal disorder. The pathology of Cockayne syndrome may be caused by several mechanisms such as a DNA repair deficiency, transcription dysregulation, altered redox balance and mitochondrial dysfunction. Conceivably each of these mechanisms participates during a...
متن کاملDysmyelination not demyelination causes neurological symptoms in preweaned mice in a murine model of Cockayne syndrome.
Cockayne syndrome (CS) is a rare autosomal recessive neurodegenerative disease that is associated with mutations in either of two transcription-coupled DNA repair genes, CSA or CSB. Mice with a targeted mutation in the Csb gene (Cs-b(m/m)) exhibit a milder phenotype compared with human patients with mutations in the orthologous CSB gene. Mice mutated in Csb were crossed with mice lacking Xpc (X...
متن کاملNeuroimaging in Cockayne syndrome.
CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and photosensitivity. We describe the neuroimaging features (MR imaging, ¹H-MR spectroscopy, and CT) in the various clinical subtypes of CS from a cohort of genetically and biochemically proved cases. Hypomyelination, calcifications, and brain atrophy were t...
متن کاملCockayne syndrome: a case report.
A 4-year-old female with Cockayne syndrome presented for cataract extraction under general anesthesia. She was thin and frail; her neck, epiglottis and larynx were stiff; she was deaf and blind; and she could not speak, sit unaided, or perspire. At the time of her admission, she weighed 5.5 kg. Cockayne syndrome is a disease of childhood characterized by mental retardation and premature aging. ...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2018
ISSN: 0022-202X
DOI: 10.1016/j.jid.2018.03.816