ArticleProceedings of the National Academy of Sciences of the United States of America2006
Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- A unified mechanism for tubulin cofactors catalyzing α/β-tubulin biogenesis and degradation.Science advances · 2026Article
- Cryo-EM structures of the tubulin cofactors reveal the molecular basis of alpha/beta-tubulin biogenesis.Nature communications · 2025Article
- Characterization of ThreeMycobiology · 2023Article
- Functional Roles of αApplied and environmental microbiology · 2021Article
- Application of ACMG criteria to classify variants in the human gene mutation database.Journal of human genetics · 2019Article
- Sensory neuropathy in progressive motor neuronopathy (pmn) mice is associated with defects in microtubule polymerization and axonal transport.Brain pathology (Zurich, Switzerland) · 2017Article
- Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.Human molecular genetics · 2016Article
- TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.American journal of human genetics · 2016Article
- Tubulin-specific chaperones: components of a molecular machine that assembles the α/β heterodimer.Methods in cell biology · 2013Article
- Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence.PloS one · 2012Article
- Faithful chaperones.Cellular and molecular life sciences : CMLS · 2011Review
- Effect of TBCD and its regulatory interactor Arl2 on tubulin and microtubule integrity.Cytoskeleton (Hoboken, N.J.) · 2010Article
- Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.Human molecular genetics · 2010Article
- A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.Molecular biology of the cell · 2008Article
- Progressive motor neuronopathy: a critical role of the tubulin chaperone TBCE in axonal tubulin routing from the Golgi apparatus.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2007Article
- Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.Cell · 2007Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
Abstract
Microtubules are indispensable dynamic structures that contribute to many essential biological functions. Assembly of the native alpha/beta tubulin heterodimer, the subunit that polymerizes to form microtubules, requires the participation of several molecular chaperones, namely prefoldin, the cytosolic chaperonin CCT, and a series of five tubulin-specific chaperones termed cofactors A-E (TBCA-E). Among these, TBCC, TBCD, and TBCE are essential in higher eukaryotes; they function together as a multimolecular machine that assembles quasinative CCT-generated alpha- and beta-tubulin polypeptides into new heterodimers. Deletion and truncation mutations in the gene encoding TBCE have been shown to cause the rare autosomal recessive syndrome known as HRD, a devastating disorder characterized by congenital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure. Here we identify cryptic translational initiation at each of three out-of-frame AUG codons upstream of the genetic lesion as a unique mechanism that rescues a mutant HRD allele by producing a functional TBCE protein. Our data explain how afflicted individuals, who would otherwise lack the capacity to make functional TBCE, can survive and point to a limiting capacity to fold tubulin heterodimers de novo as a contributing factor to disease pathogenesis.
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