1 | EDSMA, 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
|
2 | ARL2, 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
|
3 | HRD, 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
|
4 | TBCB, 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
|
5 | ARF1, 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
|
6 | TBCE
|
| 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
|
7 | HRD, 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
|
8 | HRD, 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
|
9 | HRD, 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
|
10 | TBCE
|
| 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
|
11 | TBCA, 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
|
12 | TBCE
|
| 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
|
13 | HRD, 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
|
14 | TBCE
|
| 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
|
15 | RP2, 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
|
16 | RP2, 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
|