Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy

Microtubules are cytoskeletal polymers of ⍺/β-tubulin heterodimers essential for a wide range of cellular processes. Pathogenic variations in microtubule-encoding genes (e.g., TUBB4B, which encodes the β-4B tubulin isotype) are responsible for a wide spectrum of cerebral malformations, collectively...

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Principais autores:	Jason R. McFadden, Christina Deanne P. Tolete, Yan Huang, Ellen Macnamara, David Sept, Galina Nesterova, William A. Gahl, Dan L. Sackett, May Christine V. Malicdan
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2023-09-01
Serija:	Molecular Genetics and Metabolism Reports
Teme:	Microtubules Rare disease Tubulinopathies Fanconi syndrome Translational medicine
Online dostop:	http://www.sciencedirect.com/science/article/pii/S2214426923000368
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