Results 311 to 320 of about 72,561 (329)

SOD1 Haplotypes in Familial Keratoconus

Cornea, 2009
We reported previously a 7-base intronic deletion close to the intron/exon junction of the SOD1 gene in 2 separate families with an autosomal-dominant form of keratoconus. The goal of this study was to determine if the 2 families (families A and H) shared a common haplotype by identifying closely linked new microsatellite markers flanking the SOD1 gene.
Anthony B. Nesburn, Nitin Udar, M. Cristina Kenney, Kent W. Small, Shari R. Atilano   +4 more
openaire   +3 more sources

SOD1 in neurotoxicity and its controversial roles in SOD1 mutation-negative ALS

Advances in Biological Regulation, 2016
Amyotrophic lateral sclerosis (ALS) is a serious neurodegenerative disorder that is characterized by the selective death of motor neurons. While the fundamental cause of the disorder is still unclear, the first identified risk gene, Cu,Zn superoxide dismutase (SOD1), has led to the proposal of several mechanisms that are relevant to its pathogenesis ...
Kengo Homma, Hidenori Ichijo, Yuki Hayashi   +2 more
openaire   +3 more sources

Cross-compartment protection by SOD1

Free Radical Biology and Medicine, 2005
The absence of SOD1 in yeast has been found to result in inactivation of Lys4p. This [4Fe-4S]-containing dehydratase is in the pathway of biosynthesis of lysine, hence the oxygen-dependent lysine auxotrophy seen in this case. O(2)(-) is known to oxidize and thus destabilize the [Fe-4S] clusters of dehydratases; hence, this would make perfect sense were
Stefan I. Liochev, Irwin Fridovich
openaire   +3 more sources

Bringing SOD1 into the fold

Nature Neuroscience, 2010
Could similar changes in superoxide dismutase 1 (SOD1) underlie both familial and sporadic amyotrophic lateral sclerosis (ALS)? A new study finds that wild-type SOD1 from sporadic ALS tissues shows conformational changes similar to those seen in familial ALS and may be pathogenic as a result of the same mechanism.
Sami J. Barmada, Steven Finkbeiner
openaire   +2 more sources

Exploratory activity and motor coordination in wild-type SOD1/SOD1 transgenic mice

Brain Research Bulletin, 2005
SOD1 is one of several overexpressed genes in trisomy 21. In order to dissect possible genetic causes of the syndrome, wild-type SOD1/SOD1 transgenic mice were compared to FVB/N non-transgenic controls at 5 months of age in tests of exploratory activity and motor coordination.
Jacqueline London, C. Strazielle, M. Le Pêcheur, Robert Lalonde   +3 more
openaire   +3 more sources

SOD1 activity and protective factors in familial ALS patients with L84F SOD1 mutation

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, 2002
The activity and amount of SOD1 in erythrocyte lysates and the plasma amino acid content were evaluated in four familial ALS patients bearing the L84F SOD1 mutation (fALS), in an asymptomatic family member with the mutation (L84F(5)), in sporadic ALS patients (sALS) and controls.
CURTI, DANIELA, ALIMONTI, DARIO, MALASPINA, ANDREA, FELETTI, FAUSTO, ZERBI, FRANCESCO, CERONI, MAURO, ROGNONI F, TESSERA S, FINOTTI N, REHAK L, MAZZINI L, POLONI TE   +11 more
openaire   +3 more sources

SOD1, more than just an antioxidant

Archives of Biochemistry and Biophysics, 2021
During cellular respiration, radicals, such as superoxide, are produced, and in a large concentration, they may cause cell damage. To combat this threat, the cell employs the enzyme Cu/Zn Superoxide Dismutase (SOD1), which converts the radical superoxide into molecular oxygen and hydrogen peroxide, through redox reactions.
Elis Cristina Araujo Eleutherio, Rayne Stfhany Silva Magalhães, Aline de Araújo Brasil, José Raphael Monteiro Neto, Luan de Holanda Paranhos   +4 more
openaire   +3 more sources

SOD1 and mitochondria in ALS: a dangerous liaison

Journal of Bioenergetics and Biomembranes, 2011
Mutant Cu,Zn superoxide dismutase (mutSOD1) is found in a subset of patients with familial amyotrophic lateral sclerosis (ALS), a fatal progressive paralysis due to loss of motor neurons. In the present article, we review existing evidence linking the expression of mutSOD1 to the many facets of mitochondrial dysfunction in ALS, with a focus on recent ...
Carri Maria Teresa, Cozzolino Mauro
openaire   +4 more sources