Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy-Reference-Cited by-同舟云学术

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

Published:2023-09 Issue: Volume:36 Page:100990
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

McFadden Jason R.,Tolete Christina Deanne P.,Huang Yan,Macnamara Ellen,Sept David,Nesterova Galina,Gahl William A.,Sackett Dan L.,Malicdan May Christine V.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference17 articles.

1. Microtubules and microtubule-associated proteins;Goodson;Cold Spring Harb Perspect Biol,2018

2. α-Tubulin acetylation on lysine 40 controls cardiac glucose uptake.

3. TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness;Maasz;Eur J Med Genet,2022

4. Spindle microtubules in flux;Rogers;J. Cell Sci.,2005

5. Mutations in TUBB4B cause a distinctive sensorineural disease;Luscan;Am. J. Hum. Genet.,2017

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