Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. (Q37295060)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19483195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease (English)

1 reference

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amyotrophic lateral sclerosis

29 January 2020

main subject

1 reference

1

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29 January 2020

author name string

P John Hart

series ordinal

2

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29 January 2020

David R Borchelt

series ordinal

3

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29 January 2020

Peter M Andersen

series ordinal

4

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29 January 2020

publication date

30 May 2009

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29 January 2020

published in

Human Molecular Genetics

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29 January 2020

volume

18

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29 January 2020

issue

17

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29 January 2020

page(s)

3217-3226

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

29 January 2020

cites work

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Destabilizing protein polymorphisms in the genetic background direct phenotypic expression of mutant SOD1 toxicity

6 September 2017

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Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis

6 September 2017

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Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival

6 September 2017

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

6 September 2017

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Soluble misfolded subfractions of mutant superoxide dismutase-1s are enriched in spinal cords throughout life in murine ALS models

6 September 2017

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How do ALS-associated mutations in superoxide dismutase 1 promote aggregation of the protein?

6 September 2017

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6 September 2017

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

6 September 2017

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

6 September 2017

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

6 September 2017

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Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death

6 September 2017

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Studies of the aggregation of mutant proteins in vitro provide insights into the genetics of amyloid diseases

6 September 2017

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

6 September 2017

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Impairment of the ubiquitin-proteasome system by protein aggregation

6 September 2017

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Formation of high molecular weight complexes of mutant Cu, Zn-superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis.

6 September 2017

1 reference

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Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: implications for Huntington's disease pathology

6 September 2017

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

6 September 2017

1 reference

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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

6 September 2017

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Elevated free nitrotyrosine levels, but not protein-bound nitrotyrosine or hydroxyl radicals, throughout amyotrophic lateral sclerosis (ALS)-like disease implicate tyrosine nitration as an aberrant in vivo property of one familial ALS-linked superox

6 September 2017

1 reference

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Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

6 September 2017

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Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1

6 September 2017

1 reference

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Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity

6 September 2017

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

6 September 2017

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

6 September 2017

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Mutant SOD1 linked to familial amyotrophic lateral sclerosis, but not wild-type SOD1, induces ER stress in COS7 cells and transgenic mice.

14 September 2017

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26 June 2018

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

26 June 2018

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Time-lapse analysis of aggregate formation in an inducible PC12 cell model of Huntington's disease reveals time-dependent aggregate formation that transiently delays cell death.

26 June 2018

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3 September 2018

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Relative influence of hydrophobicity and net charge in the aggregation of two homologous proteins.

3 September 2018

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

3 September 2018

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Clinical and pathological studies of familial amyotrophic lateral sclerosis (FALS) with SOD1 H46R mutation in large Japanese families

3 September 2018

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

3 September 2018

1 reference

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Fibrillar inclusions and motor neuron degeneration in transgenic mice expressing superoxide dismutase 1 with a disrupted copper-binding site

3 September 2018

1 reference

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High molecular weight complexes of mutant superoxide dismutase 1: age-dependent and tissue-specific accumulation

3 September 2018

1 reference

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Histological evidence of protein aggregation in mutant SOD1 transgenic mice and in amyotrophic lateral sclerosis neural tissues

3 September 2018

1 reference

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Axonal transport of mutant superoxide dismutase 1 and focal axonal abnormalities in the proximal axons of transgenic mice.

3 September 2018

1 reference

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Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains

3 September 2018

1 reference

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

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDP260

Inhibition of ICE slows ALS in mice

21 January 2018

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Amyotrophic lateral sclerosis-associated copper/zinc superoxide dismutase mutations preferentially reduce the repulsive charge of the proteins

21 January 2018

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12 December 2020

Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation

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12 December 2020

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

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12 December 2020

Transgenic-mouse model of amyotrophic lateral sclerosis

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12 December 2020

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

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12 December 2020

Coincident thresholds of mutant protein for paralytic disease and protein aggregation caused by restrictively expressed superoxide dismutase cDNA

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12 December 2020

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

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12 December 2020

Motor neuron disease in mice expressing the wild type-like D90A mutant superoxide dismutase-1

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDP260

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19483195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19483195%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1 reference