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Defective neuronal and oligodendroglial differentiation by FTD3- and ALS17-associated Ile29-to-Val mutation of CHMP2B.

作者信息

Yamawaki Minami, Akiba Masumi, Matsumoto Naoto, Watanabe Natsumi, Hattori Kohei, Takeuchi Yu, Morimoto Takako, Oizumi Hiroaki, Ohbuchi Katsuya, Miyamoto Yuki, Yamauchi Junji

机构信息

Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0392, Japan.

Tsumura Research Laboratories, Tsumura & Co., Inashiki, Ibaraki 200-1192, Japan.

出版信息

Mol Genet Metab Rep. 2019 Feb 2;19:100458. doi: 10.1016/j.ymgmr.2019.100458. eCollection 2019 Jun.

DOI:10.1016/j.ymgmr.2019.100458
PMID:30766798
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6360253/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/fae271ed911b/gr7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/3266884872f8/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/65348a5969fd/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/07d6c730da6a/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/c27948d9af0f/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/9caeda7db1d8/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/366feec40e58/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/fae271ed911b/gr7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/3266884872f8/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/65348a5969fd/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/07d6c730da6a/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/c27948d9af0f/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/9caeda7db1d8/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/366feec40e58/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0bf3/6360253/fae271ed911b/gr7.jpg

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本文引用的文献

1
Cell-autonomous requirement of TDP-43, an ALS/FTD signature protein, for oligodendrocyte survival and myelination.TDP-43,ALS/FTD 标志性蛋白,对少突胶质细胞存活和髓鞘形成的细胞自主需求。
Proc Natl Acad Sci U S A. 2018 Nov 13;115(46):E10941-E10950. doi: 10.1073/pnas.1809821115. Epub 2018 Oct 29.
2
Pull down assay for GTP-bound form of Sar1a reveals its activation during morphological differentiation.下拉法检测 Sar1a 的 GTP 结合形式揭示了其在形态分化过程中的激活。
Biochem Biophys Res Commun. 2018 Sep 10;503(3):2047-2053. doi: 10.1016/j.bbrc.2018.07.157. Epub 2018 Aug 2.
3
Data on the effect of knockout of neruregulin-1 type III on Remak bundle structure.
神经调节蛋白-1Ⅲ型基因敲除对Remak束结构影响的数据。
Data Brief. 2018 Mar 27;18:803-807. doi: 10.1016/j.dib.2018.03.099. eCollection 2018 Jun.
4
Membrane budding and scission by the ESCRT machinery: it's all in the neck.通过 ESCRT 机制进行膜出芽和分裂:一切都在颈部。
Nat Rev Mol Cell Biol. 2010 Aug;11(8):556-66. doi: 10.1038/nrm2937. Epub 2010 Jun 30.
5
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).CHMP2B 突变与下运动神经元为主型肌萎缩侧索硬化症(ALS)。
PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872.
6
The ESCRT machinery at a glance.ESCRT机制一览。
J Cell Sci. 2009 Jul 1;122(Pt 13):2163-6. doi: 10.1242/jcs.029884.
7
Cdk5 regulates differentiation of oligodendrocyte precursor cells through the direct phosphorylation of paxillin.细胞周期蛋白依赖性激酶5通过桩蛋白的直接磷酸化作用来调节少突胶质前体细胞的分化。
J Cell Sci. 2007 Dec 15;120(Pt 24):4355-66. doi: 10.1242/jcs.018218. Epub 2007 Nov 27.
8
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.TDP-43是额颞叶痴呆和肌萎缩侧索硬化中泛素阳性、tau蛋白阴性包涵体的一个组成部分。
Biochem Biophys Res Commun. 2006 Dec 22;351(3):602-11. doi: 10.1016/j.bbrc.2006.10.093. Epub 2006 Oct 30.
9
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.额颞叶痴呆和肌萎缩侧索硬化症中泛素化的TDP-43
Science. 2006 Oct 6;314(5796):130-3. doi: 10.1126/science.1134108.
10
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).伴有CHMP2B(多囊泡体蛋白2B)突变的肌萎缩侧索硬化症表型
Neurology. 2006 Sep 26;67(6):1074-7. doi: 10.1212/01.wnl.0000231510.89311.8b. Epub 2006 Jun 28.