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Journal Abstract Search

346 related items for PubMed ID: 36943622

  • 21. 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 15; 21(26):5484-99. PubMed ID: 23001566
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  • 22. Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development.
    Aksel Kiliçarslan Ö, Ataman E, Gürsoy S, Gürbüz G, Ünalp A, Gençpinar P, Olgaç Dündar N, Edizer S, Ülgenalp A, Giray Bozkaya Ö.
    Turk J Med Sci; 2020 Oct 22; 50(6):1573-1579. PubMed ID: 32718119
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  • 23. 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 06; 99(4):962-973. PubMed ID: 27666370
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  • 24. 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 15; 23(6):1516-26. PubMed ID: 24179174
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  • 27. Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects.
    Jaglin XH, Chelly J.
    Trends Genet; 2009 Dec 15; 25(12):555-66. PubMed ID: 19864038
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  • 29. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
    Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG.
    Hum Mol Genet; 2017 Jan 15; 26(2):258-269. PubMed ID: 28013290
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  • 30. Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia.
    Zocchi R, Bellacchio E, Piccione M, Scardigli R, D'Oria V, Petrini S, Baranano K, Bertini E, Sferra A.
    Front Cell Neurosci; 2023 Jan 15; 17():1162363. PubMed ID: 37435044
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  • 31. tubg1 Somatic Mutants Show Tubulinopathy-Associated Neurodevelopmental Phenotypes in a Zebrafish Model.
    Cark O, Katkat E, Aydogdu I, Iscan E, Oktay Y, Ozhan G.
    Mol Neurobiol; 2024 Aug 31. PubMed ID: 39215931
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  • 33. TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
    Sferra A, Petrini S, Bellacchio E, Nicita F, Scibelli F, Dentici ML, Alfieri P, Cestra G, Bertini ES, Zanni G.
    Int J Mol Sci; 2020 Feb 18; 21(4):. PubMed ID: 32085672
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  • 34. The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.
    Aiken J, Buscaglia G, Bates EA, Moore JK.
    J Dev Biol; 2017 Sep 18; 5(3):. PubMed ID: 29057214
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  • 35. 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 18; 182(8):1977-1984. PubMed ID: 32573066
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  • 36. 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 18; 170A(2):297-305. PubMed ID: 26639658
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  • 37. 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 Feb 18; 16():1023267. PubMed ID: 36406756
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  • 38. Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
    Weber M, Jaber D, Encha-Razavi F, Julien E, Grevoul-Fesquet J, Steffann J, Melki J, Martinovic J.
    Am J Med Genet A; 2022 Aug 18; 188(8):2331-2338. PubMed ID: 35686685
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