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

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Structural and Biophysical Properties of the Pathogenic SOD1 Variant H46R/H48Q † is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1021/BI8021735
P932PMC publication ID2757159
P698PubMed publication ID19227972
P5875ResearchGate publication ID231221100

P2093author name stringP John Hart
David R Borchelt
Valeria C Culotta
Duane D Winkler
Jonathan P Schuermann
Mark C Carroll
Xiaohang Cao
Stephen P Holloway
Jody B Proescher
P2860cites workActivation of brain calcineurin (Cn) by Cu-Zn superoxide dismutase (SOD1) depends on direct SOD1-Cn protein interactions occurring in vitro and in vivoQ24298397
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Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosisQ24644037
Processing of X-ray diffraction data collected in oscillation modeQ26778468
The structure of holo and metal-deficient wild-type human Cu, Zn superoxide dismutase and its relevance to familial amyotrophic lateral sclerosisQ27641126
Amyloid-like filaments and water-filled nanotubes formed by SOD1 mutant proteins linked to familial ALSQ27641284
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutaseQ27731976
Use of TLS parameters to model anisotropic displacements in macromolecular refinementQ27860499
Coot: model-building tools for molecular graphicsQ27860505
Efficient anisotropic refinement of macromolecular structures using FFTQ27861028
Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injuryQ28511628
Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutationQ29547561
Unraveling the mechanisms involved in motor neuron degeneration in ALSQ29619073
Pathogenic superoxide dismutase structure, folding, aggregation and turnoverQ30159887
Metals and neuroscience.Q33878376
Destabilization of apoprotein is insufficient to explain Cu,Zn-superoxide dismutase-linked ALS pathogenesis.Q33897544
Biological effects of CCS in the absence of SOD1 enzyme activation: implications for disease in a mouse model for ALS.Q33979028
The copper chaperone CCS is abundant in neurons and astrocytes in human and rodent brainQ34487153
Posttranslational modifications in Cu,Zn-superoxide dismutase and mutations associated with amyotrophic lateral sclerosis.Q35125315
Overexpression of CCS in G93A-SOD1 mice leads to accelerated neurological deficits with severe mitochondrial pathologyQ35749657
Soluble misfolded subfractions of mutant superoxide dismutase-1s are enriched in spinal cords throughout life in murine ALS modelsQ35956902
Copper-zinc superoxide dismutase and amyotrophic lateral sclerosisQ36161189
Differential regulation of small heat shock proteins in transgenic mouse models of neurodegenerative diseasesQ36539434
Selenocysteine positional variants reveal contributions to copper binding from cysteine residues in domains 2 and 3 of human copper chaperone for superoxide dismutase.Q37104965
The effects of glutaredoxin and copper activation pathways on the disulfide and stability of Cu,Zn superoxide dismutaseQ37375579
Folding of human superoxide dismutase: disulfide reduction prevents dimerization and produces marginally stable monomersQ37619322
Oxygen and the copper chaperone CCS regulate posttranslational activation of Cu,Zn superoxide dismutaseQ37681868
Impaired post-translational folding of familial ALS-linked Cu, Zn superoxide dismutase mutantsQ41969514
Oxygen-induced maturation of SOD1: a key role for disulfide formation by the copper chaperone CCS.Q41987289
Structural consequences of the familial amyotrophic lateral sclerosis SOD1 mutant His46Arg.Q42252269
Subunit asymmetry in the three-dimensional structure of a human CuZnSOD mutant found in familial amyotrophic lateral sclerosisQ42846381
Alzheimer's disease amyloid-beta binds copper and zinc to generate an allosterically ordered membrane-penetrating structure containing superoxide dismutase-like subunitsQ43556693
Copper and zinc binding modulates the aggregation and neurotoxic properties of the prion peptide PrP106-126.Q43659816
Fibrillar inclusions and motor neuron degeneration in transgenic mice expressing superoxide dismutase 1 with a disrupted copper-binding siteQ44070818
Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common featureQ44579313
Monomeric Cu,Zn-superoxide dismutase is a common misfolding intermediate in the oxidation models of sporadic and familial amyotrophic lateral sclerosis.Q44735743
Dissociation of human copper-zinc superoxide dismutase dimers using chaotrope and reductant. Insights into the molecular basis for dimer stabilityQ45107835
ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions.Q46135324
Electrostatic recognition between superoxide and copper, zinc superoxide dismutaseQ47649395
An intersubunit disulfide bond prevents in vitro aggregation of a superoxide dismutase-1 mutant linked to familial amytrophic lateral sclerosisQ47700139
A selenocysteine variant of the human copper chaperone for superoxide dismutase. A Se-XAS probe of cluster composition at the domain 3-domain 3 dimer interfaceQ47790368
Minute quantities of misfolded mutant superoxide dismutase-1 cause amyotrophic lateral sclerosisQ48177170
Restricted and regulated overexpression reveals calcineurin as a key component in the transition from short-term to long-term memory.Q52040390
An immunological epitope selective for pathological monomer-misfolded SOD1 in ALS.Q52578937
Free R value: cross-validation in crystallographyQ57000467
A characterization of copper/zinc superoxide dismutase mutants at position 124. Zinc-deficient proteinsQ67913985
Heterodimer formation between superoxide dismutase and its copper chaperoneQ73255474
Decreased zinc affinity of amyotrophic lateral sclerosis-associated superoxide dismutase mutants leads to enhanced catalysis of tyrosine nitration by peroxynitriteQ73829106
Somatodendritic accumulation of misfolded SOD1-L126Z in motor neurons mediates degeneration: alphaB-crystallin modulates aggregationQ80340613
The unusually stable quaternary structure of human Cu,Zn-superoxide dismutase 1 is controlled by both metal occupancy and disulfide statusQ80485358
Disulphide-reduced superoxide dismutase-1 in CNS of transgenic amyotrophic lateral sclerosis modelsQ81579334
Rats expressing human cytosolic copper-zinc superoxide dismutase transgenes with amyotrophic lateral sclerosis: associated mutations develop motor neuron diseaseQ94029459
P433issue15
P407language of work or nameEnglishQ1860
P921main subjectbiophysicsQ7100
P304page(s)3436-47
P577publication date2009-04-21
P1433published inBiochemistryQ764876
P1476titleStructural and Biophysical Properties of the Pathogenic SOD1 Variant H46R/H48Q †
P478volume48

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Q90364024The yeast copper chaperone for copper-zinc superoxide dismutase (CCS1) is a multifunctional chaperone promoting all levels of SOD1 maturation

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