Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In yeast, as in higher eukaryotes, reactive oxygen species are produced as normal by-products of cellular metabolism. Under physiological conditions, the cell defence mechanisms are able to avoid molecular damages. This balance is disturbed when yeast cells are exposed to diverse environmental stress conditions, such as the presence of oxidants, heat shock, ethanol and metal ions. The increased production of reactive oxygen species is sensed by the cell, leading to the induction of defence mechanisms - the oxidative stress response. The present review discusses the mechanisms by which reactive oxygen species are sensed and the signalling pathways that are coupled with changes in genomic expression programs. Yeast has been used as an eukaryotic cell system to characterise the molecular mechanisms underlying the oxidative stress response. Furthermore, yeast has been utilised to elucidate the role of oxidative stress in ageing, apoptosis, and diseases, such as familial amyotrophic lateral sclerosis and Friedreich's ataxia.
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PMID:Oxidative stress and signal transduction in Saccharomyces cerevisiae: insights into ageing, apoptosis and diseases. 1167 67

This chapter summarizes the neuropathologic features of nonneoplastic disorders of the adult cerebellum. Gait ataxia and extremity dysmetria are clinical manifestations of diseases that interrupt the complex cerebellar circuitry between the neurons of the cerebellar cortex, the cerebellar nuclei (especially the dentate nuclei), and the inferior olivary nuclei. The cerebellum is a prominent target of several sporadic and hereditary neurodegenerative diseases, including multiple system atrophy, spinocerebellar ataxia, and Friedreich ataxia. Purkinje cells display selective vulnerability to hypoxia but a surprising resistance to hypoglycemia. A classic toxin that damages the cerebellar cortex is methylmercury, but the most common injurious agent to Purkinje cells is ethanol. Many drugs cause ataxia, but doubts continue about phenytoin. Ischemic lesions of the cerebellum due to arterial thrombosis or embolism cause a spectrum of symptoms and signs, depending on the territory involved. Large hemorrhages have an unfavorable prognosis because they displace critical brainstem structures or penetrate into the fourth ventricle. Fungal infections and toxoplasmosis of the cerebellum, and cerebellar progressive multifocal leukoencephalopathy, have become rarer because of improved control of the acquired immunodeficiency syndrome. Ataxia is a prominent feature of prion disease. Adult-onset Niemann-Pick type C1 disease and Kufs disease may have a predominantly ataxic clinical phenotype. The adult cerebellum is also vulnerable to several leukodystrophies. A rare but widely recognized complication of cancer is paraneoplastic cerebellar degeneration.
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PMID:The neuropathology of the adult cerebellum. 2990 36