Publications:

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Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.

Journal Of Human Genetics

Suzuki, Naoki N; Nishiyama, Ayumi A; Warita, Hitoshi H; Aoki, Masashi M

Publication Date: 2022-06-13

Variant appearance in text: HP: H46R

PubMed Link: 35691950

Variant Present in the following documents:

• 10038_2022_Article_1055.pdf

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NR1D1 downregulation in astrocytes induces a phenotype that is detrimental to cocultured motor neurons.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Killoy, Kelby M KM; Harlan, Benjamin A BA; Pehar, Mariana M; Vargas, Marcelo R MR

Publication Date: 2022-04

Variant appearance in text: HP: H46R

PubMed Link: 35319791

Variant Present in the following documents:

• FSB2-36-0.pdf

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Impairment of Proteasome and Autophagy Underlying the Pathogenesis of Leukodystrophy.

Cells

Lin, Dar-Shong DS; Ho, Che-Sheng CS; Huang, Yu-Wen YW; Wu, Tsu-Yen TY; Lee, Tsung-Han TH; Huang, Zo-Darr ZD; Wang, Tuan-Jen TJ; Yang, Shun-Jie SJ; Chiang, Ming-Fu MF

Publication Date: 2020-05-01

Variant appearance in text: HP: H46R

PubMed Link: 32370022

Variant Present in the following documents:

• cells-09-01124.pdf

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Proteomics Approaches for Biomarker and Drug Target Discovery in ALS and FTD.

Frontiers In Neuroscience

Hedl, Thomas J TJ; San Gil, Rebecca R; Cheng, Flora F; Rayner, Stephanie L SL; Davidson, Jennilee M JM; De Luca, Alana A; Villalva, Maria D MD; Ecroyd, Heath H; Walker, Adam K AK; Lee, Albert A

Publication Date: 2019

Variant appearance in text: HP: H46R

PubMed Link: 31244593

Variant Present in the following documents:

• Main text

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Quantifying the Interaction between Copper-Zinc Superoxide Dismutase (Sod1) and its Copper Chaperone (Ccs1).

Journal Of Proteomics & Bioinformatics

Boyd, Stefanie D SD; Liu, Li L; Bulla, Lee L; Winkler, Duane D DD

Publication Date: 2018

Variant appearance in text: HP: H46R

PubMed Link: 29950795

Variant Present in the following documents:

• Main text

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A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.

Oncotarget

Fang, Weiyuan W; Song, Peng P; Xie, Xinbao X; Wang, Jianshe J; Lu, Yi Y; Li, Gang G; Abuduxikuer, Kuerbanjiang K

Publication Date: 2017-10-13

Variant appearance in text: HP: 137A>G

PubMed Link: 29137425

Variant Present in the following documents:

• Main text
• oncotarget-08-84309.pdf

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Genotype-phenotype correlations of amyotrophic lateral sclerosis.

Translational Neurodegeneration

Li, Hong-Fu HF; Wu, Zhi-Ying ZY

Publication Date: 2016

Variant appearance in text: HP: H46R

PubMed Link: 26843957

Variant Present in the following documents:

• 40035_2016_Article_50.pdf

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Conformational Disorder of the Most Immature Cu, Zn-Superoxide Dismutase Leading to Amyotrophic Lateral Sclerosis.

The Journal Of Biological Chemistry

Furukawa, Yoshiaki Y; Anzai, Itsuki I; Akiyama, Shuji S; Imai, Mizue M; Cruz, Fatima Joy C FJ; Saio, Tomohide T; Nagasawa, Kenichi K; Nomura, Takao T; Ishimori, Koichiro K

Publication Date: 2016-02-19

Variant appearance in text: HP: H46R

PubMed Link: 26694608

Variant Present in the following documents:

• Main text

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Edaravone, a Free Radical Scavenger, Delayed Symptomatic and Pathological Progression of Motor Neuron Disease in the Wobbler Mouse.

Plos One

Ikeda, Ken K; Iwasaki, Yasuo Y

Publication Date: 2015

Variant appearance in text: HP: H46R

PubMed Link: 26469273

Variant Present in the following documents:

• pone.0140316.pdf

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A novel acylaminoimidazole derivative, WN1316, alleviates disease progression via suppression of glial inflammation in ALS mouse model.

Plos One

Tanaka, Kazunori K; Kanno, Takuya T; Yanagisawa, Yoshiko Y; Yasutake, Kaori K; Inoue, Satoshi S; Hirayama, Noriaki N; Ikeda, Joh-E JE

Publication Date: 2014

Variant appearance in text: HP: H46R

PubMed Link: 24498180

Variant Present in the following documents:

• Main text
• pone.0087728.pdf

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An inducer of VGF protects cells against ER stress-induced cell death and prolongs survival in the mutant SOD1 animal models of familial ALS.

Plos One

Shimazawa, Masamitsu M; Tanaka, Hirotaka H; Ito, Yasushi Y; Morimoto, Nobutaka N; Tsuruma, Kazuhiro K; Kadokura, Michinori M; Tamura, Shigeki S; Inoue, Teruyoshi T; Yamada, Mitsunori M; Takahashi, Hitoshi H; Warita, Hitoshi H; Aoki, Masashi M; Hara, Hideaki H

Publication Date: 2010-12-09

Variant appearance in text: HP: H46R

PubMed Link: 21151573

Variant Present in the following documents:

• pone.0015307.pdf

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Structural and biophysical properties of the pathogenic SOD1 variant H46R/H48Q.

Biochemistry

Winkler, Duane D DD; Schuermann, Jonathan P JP; Cao, Xiaohang X; Holloway, Stephen P SP; Borchelt, David R DR; Carroll, Mark C MC; Proescher, Jody B JB; Culotta, Valeria C VC; Hart, P John PJ

Publication Date: 2009-04-21

Variant appearance in text: HP: His46Arg

PubMed Link: 19227972

Variant Present in the following documents:

• Main text

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