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

Mark E. Gurney; Haifeng Pu; Arlene Y. Chiu; Mauro C. Dal Canto; Cynthia Y. Polchow; Denise D. Alexander; Jan Caliendo; Afif Hentati; Young W. Kwon; Han Xiang Deng; Wenje Chen; Ping Zhai; Robert L. Sufit; Teepu Siddique

doi:10.1126/science.8209258

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

Mark E. Gurney^*, Haifeng Pu, Arlene Y. Chiu, Mauro C. Dal Canto, Cynthia Y. Polchow, Denise D. Alexander, Jan Caliendo, Afif Hentati, Young W. Kwon, Han Xiang Deng, Wenje Chen, Ping Zhai, Robert L. Sufit, Teepu Siddique

^*Corresponding author for this work

Neurology

Research output: Contribution to journal › Article › peer-review

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Abstract

Mutations of human Cu,Zn superoxide dismutase (SOD) are found in about 20 percent of patients with familial amyotrophic lateral sclerosis (ALS). Expression of high levels of human SOD containing a substitution of glycine to alanine at position 93-a change that has little effect on enzyme activity-caused motor neuron disease in transgenic mice. The mice became paralyzed in one or more limbs as a result of motor neuron loss from the spinal cord and died by 5 to 6 months of age. The results show that dominant, gain-of-function mutations in SOD contribute to the pathogenesis of familial ALS.

Original language	English (US)
Pages (from-to)	1772-1775
Number of pages	4
Journal	Science
Volume	264
Issue number	5166
DOIs	https://doi.org/10.1126/science.8209258
State	Published - 1994

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@article{1b147008acf54515bb86bd493f294f7a,

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

abstract = "Mutations of human Cu,Zn superoxide dismutase (SOD) are found in about 20 percent of patients with familial amyotrophic lateral sclerosis (ALS). Expression of high levels of human SOD containing a substitution of glycine to alanine at position 93-a change that has little effect on enzyme activity-caused motor neuron disease in transgenic mice. The mice became paralyzed in one or more limbs as a result of motor neuron loss from the spinal cord and died by 5 to 6 months of age. The results show that dominant, gain-of-function mutations in SOD contribute to the pathogenesis of familial ALS.",

author = "Gurney, {Mark E.} and Haifeng Pu and Chiu, {Arlene Y.} and {Dal Canto}, {Mauro C.} and Polchow, {Cynthia Y.} and Alexander, {Denise D.} and Jan Caliendo and Afif Hentati and Kwon, {Young W.} and Deng, {Han Xiang} and Wenje Chen and Ping Zhai and Sufit, {Robert L.} and Teepu Siddique",

year = "1994",

doi = "10.1126/science.8209258",

language = "English (US)",

volume = "264",

pages = "1772--1775",

journal = "Science",

issn = "0036-8075",

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TY - JOUR

T1 - Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

AU - Gurney, Mark E.

AU - Pu, Haifeng

AU - Chiu, Arlene Y.

AU - Dal Canto, Mauro C.

AU - Polchow, Cynthia Y.

AU - Alexander, Denise D.

AU - Caliendo, Jan

AU - Hentati, Afif

AU - Kwon, Young W.

AU - Deng, Han Xiang

AU - Chen, Wenje

AU - Zhai, Ping

AU - Sufit, Robert L.

AU - Siddique, Teepu

PY - 1994

Y1 - 1994

N2 - Mutations of human Cu,Zn superoxide dismutase (SOD) are found in about 20 percent of patients with familial amyotrophic lateral sclerosis (ALS). Expression of high levels of human SOD containing a substitution of glycine to alanine at position 93-a change that has little effect on enzyme activity-caused motor neuron disease in transgenic mice. The mice became paralyzed in one or more limbs as a result of motor neuron loss from the spinal cord and died by 5 to 6 months of age. The results show that dominant, gain-of-function mutations in SOD contribute to the pathogenesis of familial ALS.

AB - Mutations of human Cu,Zn superoxide dismutase (SOD) are found in about 20 percent of patients with familial amyotrophic lateral sclerosis (ALS). Expression of high levels of human SOD containing a substitution of glycine to alanine at position 93-a change that has little effect on enzyme activity-caused motor neuron disease in transgenic mice. The mice became paralyzed in one or more limbs as a result of motor neuron loss from the spinal cord and died by 5 to 6 months of age. The results show that dominant, gain-of-function mutations in SOD contribute to the pathogenesis of familial ALS.

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

Abstract

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