نتایج جستجو برای: sod1

تعداد نتایج: 2754  

Journal: :Human molecular genetics 2010
Bradley J Turner Steven Ackerley Kay E Davies Kevin Talbot

Mutant superoxide dismutase 1 (SOD1) action within non-neuronal cells is implicated in damage to spinal motor neurons in a genetic form of amyotrophic lateral sclerosis (ALS). Central nervous system glial cells such as astrocytes and microglia drive progression in transgenic mutant SOD1 mice, however, the role of myelinating glia remains unclear. Specifically, peripheral myelinating glial cells...

2016
Isil Keskin Elin Forsgren Dale J. Lange Markus Weber Anna Birve Matthis Synofzik Jonathan D. Gilthorpe Peter M. Andersen Stefan L. Marklund Gilles J. Guillemin

Mutations in superoxide dismutase-1 (SOD1) are a common known cause of amyotrophic lateral sclerosis (ALS). The neurotoxicity of mutant SOD1s is most likely caused by misfolded molecular species, but disease pathogenesis is still not understood. Proposed mechanisms include impaired mitochondrial function, induction of endoplasmic reticulum stress, reduction in the activities of the proteasome a...

2014
Seiichi Nagano

Amyotrophic lateral sclerosis (ALS) is a fatal degenerative disease of motor neurons. About 10 % of ALS cases are affected in a familial trait, a subset of which is caused by the mutation of Cu, Zn-superoxide dismutase (SOD1) gene (Rosen et al., 1993). Since the identification of the gene for familial ALS, research emphasis for ALS has been placed on uncovering the pathogenic mechanism of motor...

2016
Itsuki Anzai Keisuke Toichi Eiichi Tokuda Atsushi Mukaiyama Shuji Akiyama Yoshiaki Furukawa

Dominant mutations in Cu/Zn-superoxide dismutase (SOD1) gene have been shown to cause a familial form of amyotrophic lateral sclerosis (SOD1-ALS). A major pathological hallmark of this disease is abnormal accumulation of mutant SOD1 oligomers in the affected spinal motor neurons. While no effective therapeutics for SOD1-ALS is currently available, SOD1 oligomerization will be a good target for ...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1998
S Couillard-Després Q Zhu P C Wong D L Price D W Cleveland J P Julien

To investigate the role of neurofilaments in motor neuron disease caused by superoxide dismutase (SOD1) mutations, transgenic mice expressing a amyotrophic lateral sclerosis-linked SOD1 mutant (SOD1(G37R)) were mated with transgenic mice expressing human neurofilament heavy (NF-H) subunits. Unexpectedly, expression of human NF-H transgenes increased by up to 65%, the mean lifespan of SOD1(G37R)...

2011
Ashley I. Bush

The etiopathogenesis of amyotrophic lateral sclerosis (ALS) remains contentious, but new findings related to mutations of the Cu, Zn-superoxide dismutase (SOD1) gene continue to provide crucial insights. Using a conformation-specific antibody that detects misfolded SOD1 (C4F6), Bosco et al. (2010) recently reported that oxidized wild-type SOD1 and mutant SOD1 share a conformational epitope that...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2016
Marcel F Leyton-Jaimes Clara Benaim Salah Abu-Hamad Joy Kahn Amos Guetta Richard Bucala Adrian Israelson

Mutations in superoxide dismutase (SOD1) cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease characterized by the loss of upper and lower motor neurons in the brain and spinal cord. It has been suggested that the toxicity of mutant SOD1 results from its misfolding and accumulation on the cytoplasmic faces of intracellular organelles, including the mitochondria and endop...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2014
Blaine R Roberts Nastasia K H Lim Erin J McAllum Paul S Donnelly Dominic J Hare Philip A Doble Bradley J Turner Katherine A Price Sin Chun Lim Brett M Paterson James L Hickey Timothy W Rhoads Jared R Williams Katja M Kanninen Lin W Hung Jeffrey R Liddell Alexandra Grubman Jean-Francois Monty Roxana M Llanos David R Kramer Julian F B Mercer Ashley I Bush Colin L Masters James A Duce Qiao-Xin Li Joseph S Beckman Kevin J Barnham Anthony R White Peter J Crouch

Mutations in the metallo-protein Cu/Zn-superoxide dismutase (SOD1) cause amyotrophic lateral sclerosis (ALS) in humans and an expression level-dependent phenotype in transgenic rodents. We show that oral treatment with the therapeutic agent diacetyl-bis(4-methylthiosemicarbazonato)copper(II) [Cu(II)(atsm)] increased the concentration of mutant SOD1 (SOD1G37R) in ALS model mice, but paradoxicall...

Journal: :The Journal of biological chemistry 2007
Noriko Fujiwara Miyako Nakano Shinsuke Kato Daisaku Yoshihara Tomomi Ookawara Hironobu Eguchi Naoyuki Taniguchi Keiichiro Suzuki

Copper-zinc superoxide dismutase (SOD1) plays a protective role against oxidative stress. On the other hand, recent studies suggest that SOD1 itself is a major target of oxidative damage and has its own pathogenicity in various neurodegenerative diseases, including familial amyotrophic lateral sclerosis. Only human and great ape SOD1s among mammals have the highly reactive free cysteine residue...

2014
Blaine R. Roberts Nastasia K. H. Lim Erin J. McAllum Paul S. Donnelly Dominic J. Hare Philip A. Doble Bradley J. Turner Katherine A. Price Sin Chun Lim Brett M. Paterson James L. Hickey Timothy W. Rhoads Jared R. Williams Katja M. Kanninen Lin W. Hung Jeffrey R. Liddell Alexandra Grubman Jean-Francois Monty Roxana M. Llanos David R. Kramer Julian F. B. Mercer Ashley I. Bush Colin L. Masters James A. Duce Qiao-Xin Li Joseph S. Beckman Kevin J. Barnham Anthony R. White Peter J. Crouch

Mutations in the metallo-protein Cu/Zn-superoxide dismutase (SOD1) cause amyotrophic lateral sclerosis (ALS) in humans and an expression level-dependent phenotype in transgenic rodents. We show that oral treatment with the therapeutic agent diacetyl-bis(4-methylthiosemicarbazonato)copper II [Cu II (atsm)] increased the concentration of mutant SOD1 (SOD1G37R) in ALS model mice, but paradoxically...

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