Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

doi:10.1016/j.ajhg.2016.08.003

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Article

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

American journal of human genetics - 6 Oct 2016

Flex Elisabetta, Niceta Marcello, Cecchetti Serena, Thiffault Isabelle, Au Margaret G, Capuano Alessandro, Piermarini Emanuela, Ivanova Anna A, Francis Joshua W, Chillemi Giovanni, Chandramouli Balasubramanian, Carpentieri Giovanna, Haaxma Charlotte A, Ciolfi Andrea, Pizzi Simone, Douglas Ganka V, Levine Kara, Sferra Antonella, Dentici Maria Lisa, Pfundt Rolph R, Le Pichon Jean-Baptiste, Farrow Emily, Baas Frank, Piemonte Fiorella, Dallapiccola Bruno, Graham John M, Saunders Carol J, Bertini Enrico, Kahn Richard A, Koolen David A, Tartaglia Marco

Abstract excerpt

Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of neuronal processes, including cell division, migration, polarity, intracellular trafficking, and signal transduction. Mutations in genes encoding tubulins and microtubule-associated proteins are known to cause neurodevelopmental and neurodegenerative disorders. Growing evidence suggests that altered microtubule dynamics may...

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PMID: 27666370
DOI: 10.1016/j.ajhg.2016.08.003
PMCID: PMC5065658

Genes

TBCD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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