Mutation of SOD1 in ALS: a gain of a loss of function (Q24305971)

inferred from title

superoxide dismutase 1

1 reference

GOA release 2020-03-11

Valeria Crippa

8

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Paola Rusmini

Paola Rusmini

11

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Patrizia Riso

Patrizia Riso

4

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Marisa Porrini

Marisa Porrini

6

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Caterina Bendotti

Caterina Bendotti

13

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Angelo Poletti

Angelo Poletti

14

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author name string

Daniela Sau

1

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Silvia De Biasi

2

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Laura Vitellaro-Zuccarello

3

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Serena Guarnieri

5

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Silvia Simeoni

7

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Elisa Onesto

9

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Isabella Palazzolo

10

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Elena Bolzoni

Lessons from models of SOD1-linked familial ALS.

12

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language of work or name

English

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publication date

1 July 2007

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published in

Human Molecular Genetics

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volume

16

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issue

13

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page(s)

1604-18

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cites work

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Molecular biology of amyotrophic lateral sclerosis: insights from genetics

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

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

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Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis

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Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions

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Increased oxidative damage to DNA in an animal model of amyotrophic lateral sclerosis

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Oxidative stress in ALS: a mechanism of neurodegeneration and a therapeutic target

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Early vacuolization and mitochondrial damage in motor neurons of FALS mice are not associated with apoptosis or with changes in cytochrome oxidase histochemical reactivity.

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

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Neuroblastoma x spinal cord (NSC) hybrid cell lines resemble developing motor neurons

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Androgen-induced neurite outgrowth is mediated by neuritin in motor neurones.

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Motoneuronal cell death is not correlated with aggregate formation of androgen receptors containing an elongated polyglutamine tract

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Global impairment of the ubiquitin-proteasome system by nuclear or cytoplasmic protein aggregates precedes inclusion body formation.

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

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Radio-sensitivity of the cells from amyotrophic lateral sclerosis model mice transfected with human mutant SOD1.

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

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Aggregation and Motor Neuron Toxicity of an ALS-Linked SOD1 Mutant Independent from Wild-Type SOD1

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Alterations in G(1) to S phase cell-cycle regulators during amyotrophic lateral sclerosis

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Histological evidence of redox system breakdown caused by superoxide dismutase 1 (SOD1) aggregation is common to SOD1-mutated motor neurons in humans and animal models

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Identification of a signal for rapid export of proteins from the nucleus

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Nuclear import can be separated into distinct steps in vitro: nuclear pore binding and translocation

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Alteration of familial ALS-linked mutant SOD1 solubility with disease progression: Its modulation by the proteasome and Hsp70

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Sequence and structural determinants of Cu, Zn superoxide dismutase aggregation

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Increased oxidative damage to DNA in ALS patients

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Superoxide dismutase concentration and activity in familial amyotrophic lateral sclerosis

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Mitochondrial localization of mutant superoxide dismutase 1 triggers caspase-dependent cell death in a cellular model of familial amyotrophic lateral sclerosis

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Does tomato consumption effectively increase the resistance of lymphocyte DNA to oxidative damage?

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7 January 2021

Androgen receptor with elongated polyglutamine tract forms aggregates that alter axonal trafficking and mitochondrial distribution in motor neuronal processes

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Reduction of CuZn-superoxide dismutase activity exacerbates neuronal cell injury and edema formation after transient focal cerebral ischemia

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Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1

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