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Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3599, doi. 10.1093/hmg/ddq276
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- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
- Published in:
- Nature Genetics, 2013, v. 45, n. 8, p. 962, doi. 10.1038/ng0813-962b
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- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
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- Nature Genetics, 2013, v. 45, n. 6, p. 639, doi. 10.1038/ng.2613
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- Article
Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
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- Nature Genetics, 2009, v. 41, n. 6, p. 746, doi. 10.1038/ng.380
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- Article
Effect of TBCD and its regulatory interactor Arl2 on tubulin and microtubule integrity.
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- Cytoskeleton, 2010, v. 67, n. 11, p. 706, doi. 10.1002/cm.20480
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- Article
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 2, p. 258, doi. 10.1093/hmg/ddw383
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- Article
Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.
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- Human Molecular Genetics, 2016, v. 25, n. 21, p. 4635, doi. 10.1093/hmg/ddw292
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- Article
Specificity in chaperonin-mediated protein folding.
- Published in:
- Nature, 1995, v. 375, n. 6528, p. 250, doi. 10.1038/375250a0
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- Article
A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 599, doi. 10.1002/mgg3.236
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- Article
Mutational analysis of the arginine repressor of Escherichia coli.
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- Molecular Microbiology, 1994, v. 13, n. 4, p. 599, doi. 10.1111/j.1365-2958.1994.tb00454.x
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- Article