About: De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

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About: De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy Goto Sponge NotDistinct Permalink

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scientific article published on April 2014

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rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2014 (ast) наукова стаття, опублікована у квітні 2014 (uk) scientific article published on April 2014 (en) مقالة علمية نشرت في أبريل 2014 (ar)
publication date	wds:Q37693218-18FE1266-0FC8-4497-9FC7-3D34BC3859BB
publication date	2014-04-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37693218-5CD21C16-9C39-4CA1-BBEF-8AB38376058E
language of work or name	English
cites work	wds:Q37693218-003063A0-381D-4AE5-BFC1-2B6D3CAB78B8 wds:Q37693218-0DAB52A2-20DB-4442-9C4E-DC9AF2C17A05 wds:Q37693218-13245494-EFD6-4458-811E-257ECBE49653 wds:Q37693218-16A9E383-1889-4A1F-BE46-476646105FEF wds:Q37693218-197DCCA3-BC96-4628-877A-04B9B995214C wds:Q37693218-1B0ADF02-3EA9-4706-950E-F6F77829D223 wds:Q37693218-3013FC20-C1DC-4E8B-A983-5714EF7D67D6 wds:Q37693218-36039A88-C83D-403A-9C60-F14BBF74D35C wds:Q37693218-41543C0B-71A4-4B43-8EDF-0284A5FEC456 wds:Q37693218-4269F534-C044-451C-ADC8-DB3197CB8A85 wds:Q37693218-43DFFA62-89A2-4AD1-92DD-AE0EB3A8FD31 wds:Q37693218-48FB188E-0B5A-4199-AF8B-4B1568828A42 wds:Q37693218-54DAA357-047E-493C-9FFC-B34F37877D49 wds:Q37693218-60AEC623-2DE4-4980-91B1-91E4C046A4EE wds:Q37693218-66BE8BC3-F913-4EF7-9D18-58A8936BAC1C wds:Q37693218-76C05015-FDC9-4071-BBE8-8F1F691D37C0 wds:Q37693218-81F7E658-E8DF-4B63-BCE1-802874E8F6D0 wds:Q37693218-82294BB5-4E38-448A-BA28-EDCDE6933388 wds:Q37693218-84CD738F-DBAF-4B29-860C-CBB191173608 wds:Q37693218-882F717A-1FA6-4547-9988-7D132B802519 wds:Q37693218-8B72B424-ABC9-4D20-A473-7D3780346DB5 wds:Q37693218-90BD3B4D-9B3A-4580-9073-FCA1CFD88234 wds:Q37693218-A96636D9-EA5D-412E-B280-D18443A4AB04 wds:Q37693218-D3F7D589-431A-4ACE-9C79-ED44141DDFE5 wds:Q37693218-D747FC58-B70F-44C3-BA0A-4729C287D7BA wds:Q37693218-E5C6871E-D8CA-4182-AE3B-3B6A69508225 wds:Q37693218-EFAEDCE9-75E0-4C29-B1C7-E5E02DF6FBA6 wds:Q37693218-F0A4756A-69C8-45B0-AAD9-6391AB514351 wds:Q37693218-F41E5D61-8051-4958-8695-20846B82A5E6
cites work	Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects Microtubule polymerization dynamics Dynamic instability of microtubule growth ZNRF1 promotes Wallerian degeneration by degrading AKT to induce GSK3B-dependent CRMP2 phosphorylation Refined structure of alpha beta-tubulin at 3.5 A resolution Molecular mechanism of action of microtubule-stabilizing anticancer agents High-resolution model of the microtubule A developmental and genetic classification for malformations of cortical development: update 2012 Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia Microtubule-dependent transport in neurons: steps towards an understanding of regulation, function and dysfunction A developmental and genetic classification for malformations of cortical development Actin and microtubules in neurite initiation: Are MAPs the missing link? The alpha- and beta-tubulin folding pathways Regulatory polymorphisms in β-tubulin IIa are associated with paclitaxel-induced peripheral neuropathy. Tumoral and tissue-specific expression of the major human beta-tubulin isotypes. Polymicrogyria with dysmorphic basal ganglia? Think tubulin! A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum ZNRF1 interacts with tubulin and regulates cell morphogenesis TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse Fine architecture and mutation mapping of human brain inhibitory system ligand gated ion channels by high-throughput homology modeling. Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis
author name string	wds:Q37693218-07A3870A-3012-4D2F-A407-FA53FAB31CF3 wds:Q37693218-3271CFAD-F0A6-4863-B18A-9EEF28BFBE68 wds:Q37693218-330E8703-D0FA-4E99-9080-4178DDA09382 wds:Q37693218-650CE733-BB73-46B5-AEF0-EF1BC62E74B3 wds:Q37693218-8886D29E-096F-42BB-82C8-AA27D35DEC38 wds:Q37693218-98A87E0D-07D2-45C6-AFE7-BD2253D2B585 wds:Q37693218-EBE36C74-5215-48A5-A68C-310665BB46F3
author name string	Daniela T Pilz Alex R Paciorkowski Emily Tuttle Laurie E Seltzer Robert W Marion Dalia Ghoneim Susan L Christian
rdfs:label	De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy (en) De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy (nl) De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy (ast)
skos:prefLabel	De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy (en) De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy (nl) De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy (ast)
name	De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy (en)

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