Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

Published:2017-04-13 Issue:1 Volume:10 Page:
ISSN:1756-6606
Container-title:Molecular Brain
language:en
Short-container-title:Mol Brain

Author:

Choquet Karine,Yang Sharon,Moir Robyn D.,Forget Diane,Larivière Roxanne,Bouchard Annie,Poitras Christian,Sgarioto Nicolas,Dicaire Marie-Josée,Noohi Forough,Kennedy Timothy E.,Rochford Joseph,Bernard Geneviève,Teichmann Martin,Coulombe Benoit,Willis Ian M.,Kleinman Claudia L.,Brais Bernard

Funder

Canadian Institutes of Health Research

Fondation Leucodystrophie

European Leukodystrophy Association

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Molecular Biology

Link

http://link.springer.com/content/pdf/10.1186/s13041-017-0294-y.pdf

Reference73 articles.

1. Bernard G, Chouery E, Putorti ML, Tetreault M, Takanohashi A, Carosso G, Clement I, Boespflug-Tanguy O, Rodriguez D, Delague V, et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet. 2011;89:415–23.

2. Tetreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011;89:652–5.

3. Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallee-Adam M, Poitras C, Brais B, Yoon G, et al. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun. 2015;6:7623.

4. Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, et al. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011;89:644–51.

5. Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, et al. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. 2014;83:1898–905.

Cited by 32 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility;Nature Communications;2024-05-20

2. Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation;Scientific Reports;2024-04-01

3. Progress in leukodystrophies with zebrafish;Development, Growth & Differentiation;2024-01

4. Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy;Brain;2023-08-28

5. Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits;Molecular and Cellular Biology;2023-05-24

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3