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2. Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis. Breuss M; Fritz T; Gstrein T; Chan K; Ushakova L; Yu N; Vonberg FW; Werner B; Elling U; Keays DA Development; 2016 Apr; 143(7):1126-33. PubMed ID: 26903504 [TBL] [Abstract][Full Text] [Related]
4. The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Bahi-Buisson N; Poirier K; Fourniol F; Saillour Y; Valence S; Lebrun N; Hully M; Bianco CF; Boddaert N; Elie C; Lascelles K; Souville I; ; Beldjord C; Chelly J Brain; 2014 Jun; 137(Pt 6):1676-700. PubMed ID: 24860126 [TBL] [Abstract][Full Text] [Related]
5. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Cederquist GY; Luchniak A; Tischfield MA; Peeva M; Song Y; Menezes MP; Chan WM; Andrews C; Chew S; Jamieson RV; Gomes L; Flaherty M; Grant PE; Gupta ML; Engle EC Hum Mol Genet; 2012 Dec; 21(26):5484-99. PubMed ID: 23001566 [TBL] [Abstract][Full Text] [Related]
6. Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition. Breuss MW; Hansen AH; Landler L; Keays DA Behav Brain Res; 2017 Apr; 323():47-55. PubMed ID: 28130172 [TBL] [Abstract][Full Text] [Related]
7. A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance. Romaniello R; Tonelli A; Arrigoni F; Baschirotto C; Triulzi F; Bresolin N; Bassi MT; Borgatti R Dev Med Child Neurol; 2012 Aug; 54(8):765-9. PubMed ID: 22591407 [TBL] [Abstract][Full Text] [Related]
8. The Expression of Tubb2b Undergoes a Developmental Transition in Murine Cortical Neurons. Breuss M; Morandell J; Nimpf S; Gstrein T; Lauwers M; Hochstoeger T; Braun A; Chan K; Sánchez Guajardo ER; Zhang L; Suplata M; Heinze KG; Elsayad K; Keays DA J Comp Neurol; 2015 Oct; 523(15):2161-86. PubMed ID: 26105993 [TBL] [Abstract][Full Text] [Related]
9. TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity. Aiken J; Moore JK; Bates EA Hum Mol Genet; 2019 Apr; 28(8):1227-1243. PubMed ID: 30517687 [TBL] [Abstract][Full Text] [Related]
10. Mutation of the α-tubulin Tuba1a leads to straighter microtubules and perturbs neuronal migration. Belvindrah R; Natarajan K; Shabajee P; Bruel-Jungerman E; Bernard J; Goutierre M; Moutkine I; Jaglin XH; Savariradjane M; Irinopoulou T; Poncer JC; Janke C; Francis F J Cell Biol; 2017 Aug; 216(8):2443-2461. PubMed ID: 28687665 [TBL] [Abstract][Full Text] [Related]
11. TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons. Ngo L; Haas M; Qu Z; Li SS; Zenker J; Teng KS; Gunnersen JM; Breuss M; Habgood M; Keays DA; Heng JI Hum Mol Genet; 2014 Oct; 23(19):5147-58. PubMed ID: 24833723 [TBL] [Abstract][Full Text] [Related]
12. Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations. Madrigal I; Rabionet R; Alvarez-Mora MI; Sanchez A; Rodríguez-Revenga L; Estivill X; Mila M Gene; 2019 May; 695():12-17. PubMed ID: 30738969 [TBL] [Abstract][Full Text] [Related]
13. Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development. Tantry MSA; Santhakumar K Mol Neurobiol; 2023 Jul; 60(7):3803-3823. PubMed ID: 36943622 [TBL] [Abstract][Full Text] [Related]
14. Loss-of-Function Plays a Major Role in Early Neurogenesis of Tubulin α-1 A (TUBA1A) Mutation-Related Brain Malformations. Xie L; Huang J; Dai L; Luo J; Zhang J; Peng Q; Sun J; Zhang W Mol Neurobiol; 2021 Apr; 58(4):1291-1302. PubMed ID: 33165829 [TBL] [Abstract][Full Text] [Related]
15. Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway. Tian G; Jaglin XH; Keays DA; Francis F; Chelly J; Cowan NJ Hum Mol Genet; 2010 Sep; 19(18):3599-613. PubMed ID: 20603323 [TBL] [Abstract][Full Text] [Related]
16. A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganization. Stottmann RW; Driver A; Gutierrez A; Skelton MR; Muntifering M; Stepien C; Knudson L; Kofron M; Vorhees CV; Williams MT Genes Brain Behav; 2017 Feb; 16(2):250-259. PubMed ID: 27594048 [TBL] [Abstract][Full Text] [Related]
17. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Poirier K; Saillour Y; Bahi-Buisson N; Jaglin XH; Fallet-Bianco C; Nabbout R; Castelnau-Ptakhine L; Roubertie A; Attie-Bitach T; Desguerre I; Genevieve D; Barnerias C; Keren B; Lebrun N; Boddaert N; Encha-Razavi F; Chelly J Hum Mol Genet; 2010 Nov; 19(22):4462-73. PubMed ID: 20829227 [TBL] [Abstract][Full Text] [Related]
18. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Poirier K; Keays DA; Francis F; Saillour Y; Bahi N; Manouvrier S; Fallet-Bianco C; Pasquier L; Toutain A; Tuy FP; Bienvenu T; Joriot S; Odent S; Ville D; Desguerre I; Goldenberg A; Moutard ML; Fryns JP; van Esch H; Harvey RJ; Siebold C; Flint J; Beldjord C; Chelly J Hum Mutat; 2007 Nov; 28(11):1055-64. PubMed ID: 17584854 [TBL] [Abstract][Full Text] [Related]
19. Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown. Saillour Y; Broix L; Bruel-Jungerman E; Lebrun N; Muraca G; Rucci J; Poirier K; Belvindrah R; Francis F; Chelly J Hum Mol Genet; 2014 Mar; 23(6):1516-26. PubMed ID: 24179174 [TBL] [Abstract][Full Text] [Related]
20. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Mishra-Gorur K; Çağlayan AO; Schaffer AE; Chabu C; Henegariu O; Vonhoff F; Akgümüş GT; Nishimura S; Han W; Tu S; Baran B; Gümüş H; Dilber C; Zaki MS; Hossni HA; Rivière JB; Kayserili H; Spencer EG; Rosti RÖ; Schroth J; Per H; Çağlar C; Çağlar Ç; Dölen D; Baranoski JF; Kumandaş S; Minja FJ; Erson-Omay EZ; Mane SM; Lifton RP; Xu T; Keshishian H; Dobyns WB; Chi NC; Šestan N; Louvi A; Bilgüvar K; Yasuno K; Gleeson JG; Günel M Neuron; 2014 Dec; 84(6):1226-39. PubMed ID: 25521378 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]