| Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency. | Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.
David O, Kristal E, Ling G, Broides A, Hadad N, Shubinsky G, Nahum A., Free PMC Article | 02/11/2023 |
| Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations. | Defective proteasome biogenesis into skin fibroblasts isolated from Rett syndrome subjects with MeCP2 non-sense mutations.
Sbardella D, Tundo GR, Cunsolo V, Grasso G, Cascella R, Caputo V, Santoro AM, Milardi D, Pecorelli A, Ciaccio C, Di Pierro D, Leoncini S, Campagnolo L, Pironi V, Oddone F, Manni P, Foti S, Giardina E, De Felice C, Hayek J, Curatolo P, Galasso C, Valacchi G, Coletta M, Graziani G, Marini S. | 01/9/2021 |
| Mutation analysis of the TBCE gene revealed the common 12-bp (155-166del) deletion in three new Sanjad-Sakati syndrome patients from Tunisia. | Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.
Touati A, Nouri S, Halleb Y, Kmiha S, Mathlouthi J, Tej A, Mahdhaoui N, Ben Ahmed A, Saad A, Bensignor C, H'mida Ben Brahim D. | 02/23/2019 |
| TBCE protein was localized in the middle region and in the tail of the sperm while in the oocyte the localization was cytosolic. | Expression and localization of tubulin cofactors TBCD and TBCE in human gametes.
Jiménez-Moreno V, Agirregoitia E. | 05/19/2018 |
| Although loss of function of TBCE has been documented to impact multiple developmental processes, the present findings provide evidence that hypomorphic TBCE mutations primarily drive neurodegeneration | 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., Free PMC Article | 05/27/2017 |
| Sanjad-Sakati syndrome molecular pathology has been shown to be due to mutations in the TBCE gene on chromosome 1q42-q43. | Sanjad-Sakati syndrome in a Tunisian child.
Kerkeni E, Sakka R, Sfar S, Bouaziz S, Ghedira N, Ben Ameur K, Ben Hmida H, Chioukh FZ, Ghédira ES, Gribaa M, Monastiri K. | 06/11/2016 |
| the role of the human TBCE and TBCB chaperones in alpha-tubulin-beta-tubulin dissociation, was investigated. | 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. | 02/13/2016 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Joslyn G, Ravindranathan A, Brush G, Schuckit M, White RL. | 04/7/2010 |
| tudies confirmed elevated expression of three target antigens RAB38, TBCE, and DUSP12 in CML. | Efficacious immune therapy in chronic myelogenous leukemia (CML) recognizes antigens that are expressed on CML progenitor cells.
Biernacki MA, Marina O, Zhang W, Liu F, Bruns I, Cai A, Neuberg D, Canning CM, Alyea EP, Soiffer RJ, Brusic V, Ritz J, Wu CJ., Free PMC Article | 03/15/2010 |
| TBCE may play a role in development of the anterior pituitary, corpus callosum, and white matter in addition to the parathyroid glands. | 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. | 01/21/2010 |
| Study demonstrates that, unlike its counterpart TBCE, TBCB only moderately destabilizes microtubules. | Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.
Cleveland DW, Yamanaka K, Bomont P., Free PMC Article | 01/21/2010 |
| TBCE is required for the normal development and function of neuromuscular synapses and that it promotes microtubule formation | 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. | 01/21/2010 |
| Depletion of Op18 by means of RNA interference increased the susceptibility of tubulin to TBCE or E-like mediated disruption, while overexpressed Op18 exerted a tubulin-protective effect. | Op18/Stathmin counteracts the activity of overexpressed tubulin-disrupting proteins in a human leukemia cell line.
Sellin ME, Holmfeldt P, Stenmark S, Gullberg M. | 01/21/2010 |
| Reviews recent findings on the molecular mechanisms of the development of the parathyroid glands, with special emphasis on the possible role of tubulin chaperone E (TBCE), implicated in the hypopathyroidism, retardation and dysmorphism (HRD) syndrome. | Parathyroid development and the role of tubulin chaperone E.
Parvari R, Diaz GA, Hershkovitz E. | 01/21/2010 |
| Tbce is critical for the maintenance of microtubules in mouse motor axons | A missense mutation in Tbce causes progressive motor neuronopathy in mice.
Martin N, Jaubert J, Gounon P, Salido E, Haase G, Szatanik M, Guénet JL. | 01/21/2010 |
| TBCE has a role in membrane trafficking in the Golgi and late endosomal compartments, tubulin assembly, and the development of the parathyroid | 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, HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium. | 01/21/2010 |
| The tubulin-specific chaperone E (Tbce) mutation described here suggests that alterations in tubulin assembly lead to retrograde degeneration of motor axons, ultimately resulting in motoneuron cell death. | Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease.
Bommel H, Xie G, Rossoll W, Wiese S, Jablonka S, Boehm T, Sendtner M., Free PMC Article | 01/21/2010 |
| TBCE, TBCB and alpha-tubulin form a ternary complex after heterodimer dissociation. These complexes might serve to escort alpha-tubulin towards degradation or recycling, depending on the cell requirements. | 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. | 01/21/2010 |