These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. 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]
4. Bridging the Gap: The Importance of TUBA1A α-Tubulin in Forming Midline Commissures. Buscaglia G; Northington KR; Aiken J; Hoff KJ; Bates EA Front Cell Dev Biol; 2021; 9():789438. PubMed ID: 35127710 [TBL] [Abstract][Full Text] [Related]
5. The Aiken J; Buscaglia G; Bates EA; Moore JK J Dev Biol; 2017 Sep; 5(3):. PubMed ID: 29057214 [TBL] [Abstract][Full Text] [Related]
6. The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation. Hoff KJ; Neumann AJ; Moore JK Front Cell Neurosci; 2022; 16():1023267. PubMed ID: 36406756 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. Sato T; Kato M; Moriyama K; Haraguchi K; Saitsu H; Matsumoto N; Moriuchi H Brain Dev; 2018 Oct; 40(9):819-823. PubMed ID: 29907476 [TBL] [Abstract][Full Text] [Related]
9. Novel loss of function mutation in Zocchi R; Bellacchio E; Piccione M; Scardigli R; D'Oria V; Petrini S; Baranano K; Bertini E; Sferra A Front Cell Neurosci; 2023; 17():1162363. PubMed ID: 37435044 [TBL] [Abstract][Full Text] [Related]
10. Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function. Fourel G; Boscheron C FEBS Lett; 2020 Nov; 594(21):3409-3438. PubMed ID: 33064843 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations. Park K; Hoff KJ; Wethekam L; Stence N; Saenz M; Moore JK Front Cell Dev Biol; 2021; 9():765992. PubMed ID: 34869359 [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]