Rat Model of Cockayne Syndrome Neurological Disease
نویسندگان
چکیده
منابع مشابه
Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease.
Cockayne syndrome (CS) is a multisystem disorder with severe neurological symptoms. The majority of CS patients carry mutations in Cockayne syndrome group B (CSB), best known for its role in transcription-coupled nucleotide excision repair. Indeed, because various repair pathways are compromised in patient cells, CS is widely considered a genome instability syndrome. Here, we investigate the co...
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...
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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...
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چکیده ندارد.
The role of glia in neurological disease
Glial cells form a network in the central nervous system to support neurons and interact with them. The glia consist essentially of astrocytes that help with the nutrition of neurons and react in some cases of injury, oligodendrocytes that produce myelin, and microglia that are derived from the haemopoietic system and are concerned with the immunological defense of the nervous system. Experimen...
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ژورنال
عنوان ژورنال: Cell Reports
سال: 2019
ISSN: 2211-1247
DOI: 10.1016/j.celrep.2019.09.028