207 related articles for article (PubMed ID: 33137126)
1. 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]
2. 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]
3.
Hoff KJ; Aiken JE; Gutierrez MA; Franco SJ; Moore JK
Elife; 2022 May; 11():. PubMed ID: 35511030
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
Fallet-Bianco C; Loeuillet L; Poirier K; Loget P; Chapon F; Pasquier L; Saillour Y; Beldjord C; Chelly J; Francis F
Brain; 2008 Sep; 131(Pt 9):2304-20. PubMed ID: 18669490
[TBL] [Abstract][Full Text] [Related]
8. A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.
Tian G; Kong XP; Jaglin XH; Chelly J; Keays D; Cowan NJ
Mol Biol Cell; 2008 Mar; 19(3):1152-61. PubMed ID: 18199681
[TBL] [Abstract][Full Text] [Related]
9. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Morris-Rosendahl DJ; Najm J; Lachmeijer AM; Sztriha L; Martins M; Kuechler A; Haug V; Zeschnigk C; Martin P; Santos M; Vasconcelos C; Omran H; Kraus U; Van der Knaap MS; Schuierer G; Kutsche K; Uyanik G
Clin Genet; 2008 Nov; 74(5):425-33. PubMed ID: 18954413
[TBL] [Abstract][Full Text] [Related]
10. Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.
Lecourtois M; Poirier K; Friocourt G; Jaglin X; Goldenberg A; Saugier-Veber P; Chelly J; Laquerrière A
Acta Neuropathol; 2010 Jun; 119(6):779-89. PubMed ID: 20376468
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Mitani T; Punetha J; Akalin I; Pehlivan D; Dawidziuk M; Coban Akdemir Z; Yilmaz S; Aslan E; Hunter JV; Hijazi H; Grochowski CM; Jhangiani SN; Karaca E; Fatih JM; Iwanowski P; Gambin T; Wlasienko P; Goszczanska-Ciuchta A; Bekiesinska-Figatowska M; Hosseini M; Arzhangi S; Najmabadi H; Rosenfeld JA; Du H; Marafi D; Blaser S; Teitelbaum R; Silver R; ; Posey JE; Ropers HH; Gibbs RA; Wiszniewski W; Lupski JR; Chitayat D; Kahrizi K; Gawlinski P
Am J Hum Genet; 2019 Nov; 105(5):1005-1015. PubMed ID: 31630790
[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. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
Bahi-Buisson N; Poirier K; Boddaert N; Saillour Y; Castelnau L; Philip N; Buyse G; Villard L; Joriot S; Marret S; Bourgeois M; Van Esch H; Lagae L; Amiel J; Hertz-Pannier L; Roubertie A; Rivier F; Pinard JM; Beldjord C; Chelly J
J Med Genet; 2008 Oct; 45(10):647-53. PubMed ID: 18728072
[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. 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]
17. CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly.
Shimojima K; Okumura A; Hayashi M; Kondo T; Inoue H; Yamamoto T
Genomics; 2015 Oct; 106(4):196-203. PubMed ID: 26188257
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
Hikita N; Hattori H; Kato M; Sakuma S; Morotomi Y; Ishida H; Seto T; Tanaka K; Shimono T; Shintaku H; Tokuhara D
Brain Dev; 2014 Feb; 36(2):159-62. PubMed ID: 23528852
[TBL] [Abstract][Full Text] [Related]
20. Tubulin mutations in human neurodevelopmental disorders.
Maillard C; Roux CJ; Charbit-Henrion F; Steffann J; Laquerriere A; Quazza F; Buisson NB
Semin Cell Dev Biol; 2023 Mar; 137():87-95. PubMed ID: 35915025
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
