Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis. (Q33772493)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19596823 AND SRC:MED&resulttype=core&format=json

2 February 2020

review article

1 reference

title

Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19596823 AND SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

2 February 2020

main subject

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0 references

2

1 reference

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2 February 2020

Celeste M Karch

3

1 reference

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2 February 2020

author name string

Sai V Seetharaman

1

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2 February 2020

Stephen P Holloway

4

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2 February 2020

David R Borchelt

5

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2 February 2020

P John Hart

6

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2 February 2020

language of work or name

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13 July 2009

1 reference

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Experimental Biology and Medicine

2 February 2020

published in

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2 February 2020

volume

234

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2 February 2020

issue

10

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2 February 2020

page(s)

1140-1154

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Role of mutant SOD1 disulfide oxidation and aggregation in the pathogenesis of familial ALS

2 February 2020

cites work

1 reference

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Structural and Biophysical Properties of the Pathogenic SOD1 Variant H46R/H48Q †

4 July 2018

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Initiation and elongation in fibrillation of ALS-linked superoxide dismutase

4 July 2018

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Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of amyotrophic lateral sclerosis

4 July 2018

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Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis

4 July 2018

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Biological effects of CCS in the absence of SOD1 enzyme activation: implications for disease in a mouse model for ALS.

4 July 2018

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A limited role for disulfide cross-linking in the aggregation of mutant SOD1 linked to familial amyotrophic lateral sclerosis.

4 July 2018

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SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization

4 July 2018

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Heterodimer formation of wild-type and amyotrophic lateral sclerosis-causing mutant Cu/Zn-superoxide dismutase induces toxicity independent of protein aggregation

4 July 2018

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Cysteine 111 affects aggregation and cytotoxicity of mutant Cu,Zn-superoxide dismutase associated with familial amyotrophic lateral sclerosis

4 July 2018

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A multinuclear copper(I) cluster forms the dimerization interface in copper-loaded human copper chaperone for superoxide dismutase

4 July 2018

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Metalation of the amyotrophic lateral sclerosis mutant glycine 37 to arginine superoxide dismutase (SOD1) apoprotein restores its structural and dynamical properties in solution to those of metalated wild-type SOD1.

4 July 2018

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Disulfide bond mediates aggregation, toxicity, and ubiquitylation of familial amyotrophic lateral sclerosis-linked mutant SOD1.

4 July 2018

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Metal-free superoxide dismutase forms soluble oligomers under physiological conditions: a possible general mechanism for familial ALS

4 July 2018

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Overexpression of CCS in G93A-SOD1 mice leads to accelerated neurological deficits with severe mitochondrial pathology

4 July 2018

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Disease-associated mutations at copper ligand histidine residues of superoxide dismutase 1 diminish the binding of copper and compromise dimer stability

4 July 2018

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Posttranslational modifications in Cu,Zn-superoxide dismutase and mutations associated with amyotrophic lateral sclerosis.

4 July 2018

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Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria

4 July 2018

1 reference

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Pathogenic superoxide dismutase structure, folding, aggregation and turnover

4 July 2018

1 reference

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Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene

4 July 2018

1 reference

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Mapping superoxide dismutase 1 domains of non-native interaction: roles of intra- and intermolecular disulfide bonding in aggregation

4 July 2018

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Structural properties and neuronal toxicity of amyotrophic lateral sclerosis-associated Cu/Zn superoxide dismutase 1 aggregates.

4 July 2018

1 reference

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Destabilization of apoprotein is insufficient to explain Cu,Zn-superoxide dismutase-linked ALS pathogenesis.

4 July 2018

1 reference

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Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis

4 July 2018

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Structural consequences of the familial amyotrophic lateral sclerosis SOD1 mutant His46Arg.

4 July 2018

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Folding of human superoxide dismutase: disulfide reduction prevents dimerization and produces marginally stable monomers

4 July 2018

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Unraveling the mechanisms involved in motor neuron degeneration in ALS

4 July 2018

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Oxygen and the copper chaperone CCS regulate posttranslational activation of Cu,Zn superoxide dismutase

4 July 2018

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Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.

4 July 2018

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ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization

4 July 2018

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Amyloid-like filaments and water-filled nanotubes formed by SOD1 mutant proteins linked to familial ALS

4 July 2018

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Misfolded CuZnSOD and amyotrophic lateral sclerosis

4 July 2018

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An alternative mechanism of bicarbonate-mediated peroxidation by copper-zinc superoxide dismutase: rates enhanced via proposed enzyme-associated peroxycarbonate intermediate

4 July 2018

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Dynamic properties of the G93A mutant of copper-zinc superoxide dismutase as detected by NMR spectroscopy: implications for the pathology of familial amyotrophic lateral sclerosis

4 July 2018

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Peptide aggregation in neurodegenerative disease

4 July 2018

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Natural beta-sheet proteins use negative design to avoid edge-to-edge aggregation

4 July 2018

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Decreased metallation and activity in subsets of mutant superoxide dismutases associated with familial amyotrophic lateral sclerosis.

4 July 2018

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Focal loss of the glutamate transporter EAAT2 in a transgenic rat model of SOD1 mutant-mediated amyotrophic lateral sclerosis (ALS).

4 July 2018

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Heterodimeric structure of superoxide dismutase in complex with its metallochaperone

4 July 2018

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A fraction of yeast Cu,Zn-superoxide dismutase and its metallochaperone, CCS, localize to the intermembrane space of mitochondria. A physiological role for SOD1 in guarding against mitochondrial oxidative damage.

4 July 2018

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A SOD1 gene mutation in a patient with slowly progressing familial ALS.

4 July 2018

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Crystal structure of the copper chaperone for superoxide dismutase

4 July 2018

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The copper chaperone CCS is abundant in neurons and astrocytes in human and rodent brain

4 July 2018

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Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis

4 July 2018

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Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis

4 July 2018

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Subunit asymmetry in the three‐dimensional structure of a human CuZnSOD mutant found in familial amyotrophic lateral sclerosis

4 July 2018

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Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.

4 July 2018

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Phenotypic heterogeneity in motor neuron disease patients with CuZn- superoxide dismutase mutations in Scandinavia

4 July 2018

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The Copper Chaperone for Superoxide Dismutase

4 July 2018

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A familial amyotrophic lateral sclerosis-associated A4V Cu, Zn-superoxide dismutase mutant has a lower Km for hydrogen peroxide. Correlation between clinical severity and the Km value.

4 July 2018

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ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions.

4 July 2018

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Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.

4 July 2018

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Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes

4 July 2018

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Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

4 July 2018

1 reference

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Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis

4 July 2018

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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

4 July 2018

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Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

4 July 2018

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Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

4 July 2018

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A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis

4 July 2018

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A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis

4 July 2018

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Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.

4 July 2018

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Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons

4 July 2018

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Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis

4 July 2018

1 reference

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An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4.

4 July 2018

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Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene

4 July 2018

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Determination and analysis of the 2 A-structure of copper, zinc superoxide dismutase

4 July 2018

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Extracellular superoxide dismutase in human tissues and human cell lines

4 July 2018

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Human Cu/Zn superoxide dismutase gene: molecular characterization of its two mRNA species

4 July 2018

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Subunit Structure of Human Superoxide Dismutase

4 July 2018

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On the stability of bovine superoxide dismutase. The effects of metals.

4 July 2018

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Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome

4 July 2018

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Superoxide dismutases. An adaptation to a paramagnetic gas.

4 July 2018

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An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria

4 July 2018

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Mouse motor neuron disease caused by truncated SOD1 with or without C-terminal modification

21 January 2018

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Minute quantities of misfolded mutant superoxide dismutase-1 cause amyotrophic lateral sclerosis

21 January 2018

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Fully metallated S134N Cu,Zn-superoxide dismutase displays abnormal mobility and intermolecular contacts in solution

21 January 2018

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Familial amyotrophic lateral sclerosis-associated mutations decrease the thermal stability of distinctly metallated species of human copper/zinc superoxide dismutase

21 January 2018

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Dissociation of human copper-zinc superoxide dismutase dimers using chaotrope and reductant. Insights into the molecular basis for dimer stability

21 January 2018

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Human SOD1 before harboring the catalytic metal: solution structure of copper-depleted, disulfide-reduced form

21 January 2018

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Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common feature

21 January 2018

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An intersubunit disulfide bond prevents in vitro aggregation of a superoxide dismutase-1 mutant linked to familial amytrophic lateral sclerosis

21 January 2018

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Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions

21 January 2018

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Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy

21 January 2018

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Familial amyotrophic lateral sclerosis with a novel Leu126Ser mutation in the copper/zinc superoxide dismutase gene showing mild clinical features and lewy body-like hyaline inclusions

21 January 2018

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Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation

21 January 2018

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A clinicopathological study of a patient with familial amyotrophic lateral sclerosis associated with a two base pair deletion in the copper/zinc superoxide dismutase (SOD1) gene

21 January 2018

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Neurodegenerative disease: amyloid pores from pathogenic mutations

21 January 2018

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A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis

21 January 2018

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Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses

21 January 2018

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Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation

21 January 2018

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Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis

21 January 2018

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Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene

21 January 2018

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A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance.

21 January 2018

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Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis

21 January 2018

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Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS.

21 January 2018

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Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis

21 January 2018

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A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy

21 January 2018

1 reference

Identification of three mutations in the Cu,Zn-superoxide dismutase (Cu,Zn-SOD) gene with familial amyotrophic lateral sclerosis: transduction of human Cu,Zn-SOD into PC12 cells by HIV-1 TAT protein basic domain

21 January 2018

1 reference

Familial amyotrophic lateral sclerosis with a two base pair deletion in superoxide dismutase 1: gene multisystem degeneration with intracytoplasmic hyaline inclusions in astrocytes

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850267

Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement

30 October 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850267

30 October 2018

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis

21 January 2018

1 reference

Variable Metallation of Human Superoxide Dismutase: Atomic Resolution Crystal Structures of Cu–Zn, Zn–Zn and As-isolated Wild-type Enzymes

21 January 2018

1 reference

Mutations in all five exons ofSOD-1 may cause ALS

21 January 2018

1 reference

?True? sporadic ALS associated with a novel SOD-1 mutation

21 January 2018

1 reference

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

21 January 2018

1 reference

A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS

21 January 2018

1 reference

Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis

21 January 2018

1 reference

12 December 2020

Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis

1 reference

12 December 2020

Simple and defined method to detect the SOD-1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry

1 reference

12 December 2020

Multiple protein domains contribute to the action of the copper chaperone for superoxide dismutase

1 reference

12 December 2020

The unusually stable quaternary structure of human Cu,Zn-superoxide dismutase 1 is controlled by both metal occupancy and disulfide status

1 reference

12 December 2020

Somatodendritic accumulation of misfolded SOD1-L126Z in motor neurons mediates degeneration: alphaB-crystallin modulates aggregation

1 reference

12 December 2020

Disulphide-reduced superoxide dismutase-1 in CNS of transgenic amyotrophic lateral sclerosis models

1 reference

12 December 2020

Protein-bound crotonaldehyde accumulates in the spinal cord of superoxide dismutase-1 mutation-associated familial amyotrophic lateral sclerosis and its transgenic mouse model

1 reference

12 December 2020

Identification of a novel D109Y mutation in Cu/Zn superoxide dismutase (sod1) gene associated with amyotrophic lateral sclerosis

1 reference

12 December 2020

Motor neuron disease in transgenic mice with an H46R mutant SOD1 gene

1 reference

12 December 2020

Numerous conglomerate inclusions in slowly progressive familial amyotrophic lateral sclerosis with posterior column involvement

1 reference

12 December 2020

Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation

1 reference

12 December 2020

A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Autonomic failure in ALS with a novel SOD1 gene mutation

1 reference

12 December 2020

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family

1 reference

12 December 2020

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

1 reference

12 December 2020

Copper chaperone for superoxide dismutase co-aggregates with superoxide dismutase 1 (SOD1) in neuronal Lewy body-like hyaline inclusions: an immunohistochemical study on familial amyotrophic lateral sclerosis with SOD1 gene mutation

1 reference

12 December 2020

Rats expressing human cytosolic copper-zinc superoxide dismutase transgenes with amyotrophic lateral sclerosis: associated mutations develop motor neuron disease

1 reference

12 December 2020

Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Familial adult motor neuron disease: amyotrophic lateral sclerosis

1 reference

12 December 2020

Mild ALS in Japan associated with novel SOD mutation

1 reference

12 December 2020

Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis

1 reference

12 December 2020

Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others

1 reference

12 December 2020

A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient

1 reference

12 December 2020

Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation

1 reference

12 December 2020

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase

1 reference

12 December 2020

Genetics of amyotrophic lateral sclerosis

1 reference

12 December 2020

A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan

1 reference

12 December 2020

A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease

1 reference

12 December 2020

Identifiers

DOI

10.3181/0903-MR-104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19596823 AND SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19596823 AND SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

19596823

1 reference