Citations for
1EDSMA, TBCE
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E.
Am J Hum Genet 99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. 2016
2ARL2, TBCD, TBCE
Tubulin cofactors and Arl2 are cage-like chaperones that regulate the soluble αβ-tubulin pool for microtubule dynamics.
Nithianantham S, Le S, Seto E, Jia W, Leary J, Corbett KD, Moore JK, Al-Bassam J.
Elife 4. doi: 10.7554/eLife.08811. 2015
3HRD, TBCE
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.
Ratbi I, Lyahyai J, Kabiri M, Banouar M, Zerkaoui M, Barkat A, Sefiania A.
Ann Saudi Med 35(2):170-2. doi: 10.5144/0256-4947.2015.170. 2015
4TBCB, TBCE
The structure of the complex between α-tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism.
Serna M, Carranza G, Martín-Benito J, Janowski R, Canals A, Coll M, Zabala JC, Valpuesta JM.
J Cell Sci 128(9):1824-34. doi: 10.1242/jcs.167387. 2015
5ARF1, TBCE
Golgi fragmentation in pmn mice is due to a defective ARF1/TBCE cross-talk that coordinates COPI vesicle formation and tubulin polymerization.
Bellouze S, Schäfer MK, Buttigieg D, Baillat G, Rabouille C, Haase G.
Hum Mol Genet 23(22):5961-75. doi: 10.1093/hmg/ddu320. 2014
6TBCE
Mutation of the TBCE gene causes disturbance of microtubules in the auditory nerve and cochlear outer hair cell degeneration accompanied by progressive hearing loss in the pmn/pmn mouse.
Rak K, Frenz S, Radeloff A, Groh J, Jablonka S, Martini R, Hagen R, Mlynski R.
Exp Neurol 250:333-40. doi: 10.1016/j.expneurol.2013.10.007. 2013
7HRD, TBCE
Drosophila Tubulin-specific chaperone E functions at neuromuscular synapses and is required for microtubule network formation.
Jin S, Pan L, Liu Z, Wang Q, Xu Z, Zhang YQ.
Development 136(9):1571-81. Epub 2009 Mar 18. 2009
8HRD, TBCE
Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum.
Padidela R, Kelberman D, Press M, Al-Khawari M, Hindmarsh PC, Dattani MT.
J Clin Endocrinol Metab 94(8):2686-91. Epub 2009 Jun 2. 2009
9HRD, TBCE
Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum.
Padidela R, Kelberman D, Press M, Al-Khawari M, Hindmarsh PC, Dattani MT.
J Clin Endocrinol Metab 94(8):2686-91. doi: 10.1210/jc.2008-2788. 2009
10TBCE
Progressive motor neuronopathy: a critical role of the tubulin chaperone TBCE in axonal tubulin routing from the Golgi apparatus.
Schaefer MK, Schmalbruch H, Buhler E, Lopez C, Martin N, Guénet JL, Haase G.
J Neurosci 27(33):8779-89. 2007
11TBCA, TBCB, TBCE
Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation.
Kortazar D, Fanarraga ML, Carranza G, Bellido J, Villegas JC, Avila J, Zabala JC.
Exp Cell Res 313(3):425-36. Epub 2006 Sep 9. 2007
12TBCE
Parathyroid development and the role of tubulin chaperone E.
Parvari R, Diaz GA, Hershkovitz E.
Horm Res 67(1):12-21. Epub 2006 Sep 27. Review. 2007
13HRD, KCS, TBCE
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD.
Nat Genet 32(3):448-52. 2002
14TBCE
A missense mutation in Tbce causes progressive motor neuronopathy in mice.
Martin N, Jaubert J, Gounon P, Salido E, Haase G, Szatanik M, Guenet JL.
Nat Genet 32(3):443-7. 2002
15RP2, TBCA, TBCD, TBCE
Pathway leading to correctly folded beta-tubulin.
Tian G, Huang Y, Rommelaere H, Vandekerckhove J, Ampe C, Cowan NJ.
Cell 86(2):287-96. 1996
16RP2, TBCA, TBCC, TBCE
Chaperonin-mediated folding of actin and tubulin.
Lewis SA, Tian G, Vainberg IE, Cowan NJ.
J Cell Biol 132(1-2):1-4. Review. No abstract available. 1996