203 related articles for article (PubMed ID: 37435044)
1. 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]
2.
Hoff KJ; Aiken JE; Gutierrez MA; Franco SJ; Moore JK
Elife; 2022 May; 11():. PubMed ID: 35511030
[TBL] [Abstract][Full Text] [Related]
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. Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Sferra A; Fattori F; Rizza T; Flex E; Bellacchio E; Bruselles A; Petrini S; Cecchetti S; Teson M; Restaldi F; Ciolfi A; Santorelli FM; Zanni G; Barresi S; Castiglioni C; Tartaglia M; Bertini E
Hum Mol Genet; 2018 Jun; 27(11):1892-1904. PubMed ID: 29547997
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Reduced TUBA1A Tubulin Causes Defects in Trafficking and Impaired Adult Motor Behavior.
Buscaglia G; Northington KR; Moore JK; Bates EA
eNeuro; 2020; 7(2):. PubMed ID: 32184299
[TBL] [Abstract][Full Text] [Related]
7. The
Aiken J; Buscaglia G; Bates EA; Moore JK
J Dev Biol; 2017 Sep; 5(3):. PubMed ID: 29057214
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.
Aiken J; Buscaglia G; Aiken AS; Moore JK; Bates EA
Cytoskeleton (Hoboken); 2020 Mar; 77(3-4):40-54. PubMed ID: 31574570
[TBL] [Abstract][Full Text] [Related]
10. 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]
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. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Kumar RA; Pilz DT; Babatz TD; Cushion TD; Harvey K; Topf M; Yates L; Robb S; Uyanik G; Mancini GM; Rees MI; Harvey RJ; Dobyns WB
Hum Mol Genet; 2010 Jul; 19(14):2817-27. PubMed ID: 20466733
[TBL] [Abstract][Full Text] [Related]
13. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Cushion TD; Dobyns WB; Mullins JG; Stoodley N; Chung SK; Fry AE; Hehr U; Gunny R; Aylsworth AS; Prabhakar P; Uyanik G; Rankin J; Rees MI; Pilz DT
Brain; 2013 Feb; 136(Pt 2):536-48. PubMed ID: 23361065
[TBL] [Abstract][Full Text] [Related]
14. A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse.
Leca I; Phillips AW; Hofer I; Landler L; Ushakova L; Cushion TD; Dürnberger G; Stejskal K; Mechtler K; Keays DA
PLoS Genet; 2020 Nov; 16(11):e1009104. PubMed ID: 33137126
[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. Novel α-tubulin mutation disrupts neural development and tubulin proteostasis.
Gartz Hanson M; Aiken J; Sietsema DV; Sept D; Bates EA; Niswander L; Moore JK
Dev Biol; 2016 Jan; 409(2):406-19. PubMed ID: 26658218
[TBL] [Abstract][Full Text] [Related]
17. Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Flex E; Niceta M; Cecchetti S; Thiffault I; Au MG; Capuano A; Piermarini E; Ivanova AA; Francis JW; Chillemi G; Chandramouli B; Carpentieri G; Haaxma CA; Ciolfi A; Pizzi S; Douglas GV; Levine K; Sferra A; Dentici ML; Pfundt RR; Le Pichon JB; Farrow E; Baas F; Piemonte F; Dallapiccola B; Graham JM; Saunders CJ; Bertini E; Kahn RA; Koolen DA; Tartaglia M
Am J Hum Genet; 2016 Oct; 99(4):962-973. PubMed ID: 27666370
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
Tischfield MA; Cederquist GY; Gupta ML; Engle EC
Curr Opin Genet Dev; 2011 Jun; 21(3):286-94. PubMed ID: 21292473
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
