Mutations in the neuronal b-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
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چکیده
result in malformation of cortical development and neuronal migration defects Karine Poirier1,2, Yoann Saillour1,2,, Nadia Bahi-Buisson1,2,3,, Xavier H. Jaglin1,2, Catherine Fallet-Bianco7,8, Rima Nabbout3,9, Laetitia Castelnau-Ptakhine1,2, Agathe Roubertie10, Tania Attie-Bitach4, Isabelle Desguerre1,2,3, David Genevieve4, Christine Barnerias4, Boris Keren11, Nicolas Lebrun1,2, Nathalie Boddaert5, Féréchté Encha-Razavi6 and Jamel Chelly1,2,∗
منابع مشابه
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Mutations in the TUBB3 gene, encoding β-tubulin isotype III, were recently shown to be associated with various neurological syndromes which all have in common the ocular motility disorder, congenital fibrosis of the extraocular muscle type 3 (CFEOM3). Surprisingly and in contrast to previously described TUBA1A and TUBB2B phenotypes, no evidence of dysfunctional neuronal migration and cortical o...
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Over the last years, the critical role of cytoskeletal proteins in cortical development including neuronal migration as well as in neuronal morphology has been well established. Inputs from genetic studies were provided through the identification of several mutated genes encoding either proteins associated with microtubules (DCX, LIS1, KIF2A, KIF5C, DYNC1H1) or tubulin subunits (TUBA1A, TUBB2B,...
متن کاملJcb_201705172 1..3
1 The Rockefeller University Press J. Cell Biol. https://doi.org/10.1083/jcb.201705172 Microtubules regulate essential cellular events, such as cell migration, morphological changes, and cell division. Microtubules consist of laterally connected protofilaments that are constructed from polymerized αand β-tubulin heterodimers. To date, at least eight αand nine β-tubulin isotypes have been identi...
متن کاملPhenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
A spectrum of neurological disorders characterized by abnormal neuronal migration, differentiation, and axon guidance and maintenance have recently been attributed to missense and splice-site mutations in the genes that encode α-tubulin and β-tubulin isotypes TUBA1A, TUBA8, TUBB2B, and TUBB3, all of which putatively coassemble into neuronal microtubules. The resulting nervous system malformatio...
متن کاملMicroTUB(B3)ules and Brain Development
The microtubule network is crucial for the developing nervous system, and mutations in tubulin-encoding genes disrupt neuronal migration. Tischfield et al. (2010) now report that mutations in the tubulin-encoding gene TUBB3 have a striking impact on microtubule dynamics in neurons, resulting in a diverse set of disease symptoms.
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تاریخ انتشار 2010