Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Published:2016-10 Issue:4 Volume:99 Page:962-973
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Flex Elisabetta,Niceta Marcello,Cecchetti Serena,Thiffault Isabelle,Au Margaret G.,Capuano Alessandro,Piermarini Emanuela,Ivanova Anna A.,Francis Joshua W.,Chillemi Giovanni,Chandramouli Balasubramanian,Carpentieri Giovanna,Haaxma Charlotte A.,Ciolfi Andrea,Pizzi Simone,Douglas Ganka V.,Levine Kara,Sferra Antonella,Dentici Maria Lisa,Pfundt Rolph R.,Le Pichon Jean-Baptiste,Farrow Emily,Baas Frank,Piemonte Fiorella,Dallapiccola Bruno,Graham John M.,Saunders Carol J.,Bertini Enrico,Kahn Richard A.,Koolen David A.,Tartaglia Marco

Funder

Fondazione Bambino Gesù

Bulgari

Ministero della Salute

CINECA

Marion Merrell Dow Foundation

W.T. Kemper Foundation

Pat & Gil Clements Foundation

Claire Giannini Foundation

Black & Veatch

NIH

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference66 articles.

1. Building the neuronal microtubule cytoskeleton;Kapitein;Neuron,2015

2. Dynamic microtubules regulate dendritic spine morphology and synaptic plasticity;Jaworski;Neuron,2009

3. The tubulin code: molecular components, readout mechanisms, and functions;Janke;J. Cell Biol.,2014

4. Arl2 and Arl3 regulate different microtubule-dependent processes;Zhou;Mol. Biol. Cell,2006

5. Microtubules and neurodevelopmental disease: the movers and the makers;Breuss;Adv. Exp. Med. Biol.,2014

Cited by 66 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. Cryo-EM structures of the tubulin cofactors reveal the molecular basis for the biogenesis of alpha/beta-tubulin;2024-01-31

2. Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy;International Journal of Molecular Sciences;2023-11-16

3. A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report;International Journal of Molecular Sciences;2023-08-03

4. CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes;International Journal of Molecular Sciences;2023-04-28

5. Maintaining essential microtubule bundles in meter-long axons: a role for local tubulin biogenesis?;Brain Research Bulletin;2023-02

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