Mutations associated with amyotrophic lateral sclerosis convert superoxide dismutase from an antiapoptotic gene to a proapoptotic gene: studies in yeast and neural cells.
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منابع مشابه
Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without CuZn-superoxide dismutase mutations.
Mutations in CuZn-superoxide dismutase (CuZn-SOD) have been linked to familial amyotrophic lateral sclerosis (ALS), and motor neurone death is caused by the gain of a toxic property of the mutant protein. Here we determined amounts, activity and molecular forms of CuZn-SOD in CSF from ALS patients carrying the D90A and other CuZn-SOD mutations and patients without such mutations. There were no ...
متن کاملCu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features.
Received 21 May 1996 and in revised form 2 September 1996 Accepted 9 September 1996 Background Amyotrophic lateral sclerosis (ALS) is a fatal disease in which degeneration of upper and lower motor neurons leads to progressive weakness of bulbar, limb, thoracic, and abdominal muscles with relative sparing of oculomotor muscles and sphincter function. Although the clinical manifestations and path...
متن کاملSuperoxide dismutase and amyotrophic lateral sclerosis.
Cover illustration: Lumbar spinal cord section from an ALS patient with sclerosis of the corticospinal tract. Klüver–Barerra staining. ABSTRACT Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting motor neurons in the spinal cord, brain stem and motor cortex, leading to paralysis, respiratory failure and death. In about 5% of ALS cases, the disease is associa...
متن کاملAnticipation and Phenotypic Heterogeneity in Korean Familial Amyotrophic Lateral Sclerosis with Superoxide Dismutase 1 Gene Mutation
BACKGROUND AND PURPOSE Different mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported in approximately 10% of cases of familial amyotrophic lateral sclerosis (ALS). The aim of this study was to analyze for mutations in the SOD1 gene and clinical characteristics in Korean family of ALS. METHODS A subpopulation of the family reported here has been described previously. I...
متن کاملAn Amyotrophic Lateral Sclerosis Like Symptoms Associated with Lead Toxicity
Abstract Lead is a heavy metal that affects many organs such as nervous system, liver, and kidney. The most important affected organ is central nervous system. The present study reported a case similar to Amyotrophic lateral sclerosis (ALS) due to lead exposure in an opium addicted person. The patient complaint was the weakness of upper and lower limbs in addition to the unsteadiness of gait...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1995
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.92.7.3024