335 related articles for article (PubMed ID: 20829227)
1. 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]
2. 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]
3. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Whitman MC; Andrews C; Chan WM; Tischfield MA; Stasheff SF; Brancati F; Ortiz-Gonzalez X; Nuovo S; Garaci F; MacKinnon SE; Hunter DG; Grant PE; Engle EC
Am J Med Genet A; 2016 Feb; 170A(2):297-305. PubMed ID: 26639658
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.
Shimojima K; Okamoto N; Yamamoto T
Am J Med Genet A; 2016 Apr; 170A(4):1076-9. PubMed ID: 26739025
[TBL] [Abstract][Full Text] [Related]
6. TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Dentici ML; Maglione V; Agolini E; Catena G; Capolino R; Lanari V; Novelli A; Sinibaldi L; Vecchio D; Gonfiantini MV; Macchiaiolo M; Digilio MC; Dallapiccola B; Bartuli A
Am J Med Genet A; 2020 Aug; 182(8):1977-1984. PubMed ID: 32573066
[TBL] [Abstract][Full Text] [Related]
7. The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
Smith SC; Olney AH; Beavers A; Spaulding J; Nelson M; Nielsen S; Sanmann JN
Am J Med Genet A; 2020 Sep; 182(9):2161-2167. PubMed ID: 32705776
[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. 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]
10. 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]
11. 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]
12. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Tischfield MA; Baris HN; Wu C; Rudolph G; Van Maldergem L; He W; Chan WM; Andrews C; Demer JL; Robertson RL; Mackey DA; Ruddle JB; Bird TD; Gottlob I; Pieh C; Traboulsi EI; Pomeroy SL; Hunter DG; Soul JS; Newlin A; Sabol LJ; Doherty EJ; de Uzcátegui CE; de Uzcátegui N; Collins ML; Sener EC; Wabbels B; Hellebrand H; Meitinger T; de Berardinis T; Magli A; Schiavi C; Pastore-Trossello M; Koc F; Wong AM; Levin AV; Geraghty MT; Descartes M; Flaherty M; Jamieson RV; Møller HU; Meuthen I; Callen DF; Kerwin J; Lindsay S; Meindl A; Gupta ML; Pellman D; Engle EC
Cell; 2010 Jan; 140(1):74-87. PubMed ID: 20074521
[TBL] [Abstract][Full Text] [Related]
13. Tubulin genes and malformations of cortical development.
Romaniello R; Arrigoni F; Fry AE; Bassi MT; Rees MI; Borgatti R; Pilz DT; Cushion TD
Eur J Med Genet; 2018 Dec; 61(12):744-754. PubMed ID: 30016746
[TBL] [Abstract][Full Text] [Related]
14. TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
Ivanova EL; Gilet JG; Sulimenko V; Duchon A; Rudolf G; Runge K; Collins SC; Asselin L; Broix L; Drouot N; Tilly P; Nusbaum P; Vincent A; Magnant W; Skory V; Birling MC; Pavlovic G; Godin JD; Yalcin B; Hérault Y; Dráber P; Chelly J; Hinckelmann MV
Nat Commun; 2019 May; 10(1):2129. PubMed ID: 31086189
[TBL] [Abstract][Full Text] [Related]
15.
Jin S; Park SE; Won D; Lee ST; Han SH; Han J
Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33921132
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
Poirier K; Saillour Y; Fourniol F; Francis F; Souville I; Valence S; Desguerre I; Marie Lepage J; Boddaert N; Line Jacquemont M; Beldjord C; Chelly J; Bahi-Buisson N
Eur J Hum Genet; 2013 Apr; 21(4):381-5. PubMed ID: 22948023
[TBL] [Abstract][Full Text] [Related]
18. 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]
19.
Hoff KJ; Aiken JE; Gutierrez MA; Franco SJ; Moore JK
Elife; 2022 May; 11():. PubMed ID: 35511030
[TBL] [Abstract][Full Text] [Related]
20. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
Jurgens JA; Barry BJ; Lemire G; Chan WM; Whitman MC; Shaaban S; Robson CD; MacKinnon S; England EM; McMillan HJ; Kelly C; Pratt BM; ; O'Donnell-Luria A; MacArthur DG; Boycott KM; Hunter DG; Engle EC
Eur J Hum Genet; 2021 May; 29(5):816-826. PubMed ID: 33649541
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]