Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.
about
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stabilityMutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentTranscriptome-wide discovery of microRNA binding sites in human brain.Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephalyRole of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyPhenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.Identification of the GTPase-activating protein DEP domain containing 1B (DEPDC1B) as a transcriptional target of Pitx2Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.Novel α-tubulin mutation disrupts neural development and tubulin proteostasisExpanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.HILI destabilizes microtubules by suppressing phosphorylation and Gigaxonin-mediated degradation of TBCB.Autoinhibition of TBCB regulates EB1-mediated microtubule dynamics.Sending Mixed Signals: The Expanding Role of Molecular Cascade Mutations in Malformations of Cortical Development and Epilepsy.The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.Tau's role in the developing brain: implications for intellectual disability.
P2860
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P2860
Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Disease-associated mutations i ...... heterodimer assembly pathway.
@ast
Disease-associated mutations i ...... heterodimer assembly pathway.
@en
type
label
Disease-associated mutations i ...... heterodimer assembly pathway.
@ast
Disease-associated mutations i ...... heterodimer assembly pathway.
@en
prefLabel
Disease-associated mutations i ...... heterodimer assembly pathway.
@ast
Disease-associated mutations i ...... heterodimer assembly pathway.
@en
P2093
P2860
P50
P356
P1476
Disease-associated mutations i ...... heterodimer assembly pathway.
@en
P2093
Guoling Tian
Nicholas J Cowan
Xavier H Jaglin
P2860
P304
P356
10.1093/HMG/DDQ276
P577
2010-07-05T00:00:00Z