Mutations inRPGR(ORF15)(retinitis pigmentosa GTPase regulator) are a major cause of inherited retinal degenerative diseases. RPGR(ORF15)(1152 residues) is a ciliary protein involved in regulating the composition and function of photoreceptor cilia. The mutational hotspot in RPGR(ORF15)is an unusual C-terminal domain encoded
Multiple diverse posttranslational modifications of alpha-tubulin such as detyrosination, further cleavage of the penultimate glutamate residue (Delta2-tubulin), acetylation, and polyglutamylation increase the structural and functional diversity of microtubules. Herein, we characterized the molecular profile of alpha-tubulin posttranslational modifications in normal
Parathyroid hormone-related peptide represses chondrocyte hypertrophy through a protein phosphatase 2A/histone deacetylase 4/MEF2 pathway
Kozhemyakina E, et al.
Molecular and Cellular Biology, 29(21), 5751-5762 (2009)
A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor-Mediated Cell Signaling, Causes Progressive Hearing Loss
Modamio-HoybjorS, et al.
American Journal of Human Genetics, 80(6), 1076-1089 (2007)
Microtubules of the eukaryotic cytoskeleton are composed of a heterodimer of α- and β-tubulin. In addition to α-and β-tubulin, several other tubulins have been identified, bringing the number of distinct tubulin classes to seven.
