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Gene Review

Tbce  -  tubulin-specific chaperone E

Mus musculus

Synonyms: 2610206D02Rik, C530005D02Rik, Tubulin-folding cofactor E, Tubulin-specific chaperone E, pmn
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Disease relevance of Tbce

  • The first manifestations of progressive motor neuronopathy in homozygous pmn/pmn mice become apparent in the hind limbs at the end of the third post-natal week, and all the mice die up to 6 or 7 weeks after birth from respiratory paralysis [1].
  • To assess its therapeutic potential in treating neurodegenerative diseases such as amyotrophic lateral sclerosis, we treated mutant mice displaying motoneuron degeneration (progressive motor neuropathy; pmn) with encapsulated GDNF-secreting cells [2].
  • Therefore, despite its potential in rescuing motoneuron cell bodies, the inability of GDNF to prevent nerve degeneration in pmn/pmn mice suggests that its usefulness in the treatment of motor neuron diseases may be restricted to cotreatment with other factors that act on the nerve process [2].
  • In vivo, several compounds have been shown to possess neural rescue properties in models of unilateral hypoxia/ischaemia, focal ischaemia, facial nerve axotomy, pmn mice, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) mouse and MPTP non-human primate [3].

High impact information on Tbce

  • A missense mutation in Tbce causes progressive motor neuronopathy in mice [4].
  • Transgenic complementation with a wildtype Tbce cDNA restored a normal phenotype in mutant mice [4].
  • We demonstrate here that adenovirus-mediated gene transfer of neurotrophin-3 (NT-3) can produce substantial therapeutic effects in the mouse mutant pmn (progressive motor neuronopathy) [5].
  • Here we report that CNTF greatly reduces all the functional and morphological changes in pmn/pmn mice, an autosomal recessive mutant leading to progressive caudo-cranial motor neuron degeneration [1].
  • We localized the genetic defect in pmn mice to a missense mutation in the tubulin-specific chaperone E (Tbce) gene on mouse chromosome 13 [6].

Biological context of Tbce

  • Quantitative analysis of leukemia inhibitory factor (LIF) mRNA expression revealed that the dramatic upregulation seen in wild-type mice after peripheral nerve lesion did not occur in pmn mice [7].
  • Since Bcl-2 acts strictly on neuronal cell body survival without compensating for nerve degeneration in pmn/pmn/bcl-2 mice, this proto-oncogene would not in itself be sufficient for treatment of neurodegenerative diseases where axonal impairment is a major component [8].
  • In a widely used mouse model of motoneuron disease (progressive motor neuronopathy or pmn) [2-4], transgenic expression of the anti-apoptotic bcl-2 gene [5] or treatment with glial cell-derived neurotrophic factor [6] prevents the apoptosis of the motoneuron soma; however, they were unable to affect the life span of the animals [9].

Anatomical context of Tbce

  • Facial nerve lesion dramatically increased the number of surviving motoneurons in pmn mice [7].
  • To evaluate whether endogenous CNTF, released after nerve injury from the cytosol of Schwann cells, supports motoneuron survival, we transected the facial nerve in 4-week-old pmn mice [7].
  • Using ELISA and RT-PCR analyses in muscle, spinal cord and serum of AdNT-3-treated pmn mice, we have investigated the contribution of these processes to the observed therapeutic effects [10].
  • Adenovirus-mediated transfer of the neurotrophin-3 gene into skeletal muscle of pmn mice: therapeutic effects and mechanisms of action [10].
  • A murine model of motoneuron disease, the pmn/pmn mouse, shows a reduction in the retrograde transport of fluorescent probes applied directly onto the cut end of sciatic nerve [11].

Associations of Tbce with chemical compounds

  • Four new isomeric azine-bridged complexes ([(cis-Pt(NH(3))(2)Cl)(2)(mu-pzn)]Cl(2) (1a) (pzn = pyrazine) and its corresponding nitrate salt (1b), [(cis-Pt(NH(3))(2)Cl)(2)(mu-pmn)]Cl(2) (2) (pmn = pyrimidine), and [(cis-Pt(NH(3))(2)Cl)(2)(mu-pdn)](NO(3))(2) (3) (pdn = pyridazine) have been newly synthesized as potential anticancer compounds [12].
  • Transgenic mice overexpressing an axonally secreted inhibitor of serine proteases (neuroserpin) were crossed with mice characterized by a "dying-back" motor neuron disease [progressive motor neuronopathy (pmn/pmn)] [13].

Other interactions of Tbce

  • This protective effect was absent in pmn mice lacking endogenous CNTF [7].
  • We examined the effects of Bcl-2 overexpression in a genetic mouse model with motor neuron disease (progressive motor neuronopathy/pmn) [8].
  • For this reason, the pmn mice were crossed with mice bearing the dominant Wlds ("slow Wallerian degeneration") mutation, which slows axon degeneration and synapse loss [7-9] [9].
  • Increased accumulation of transferrin by motor neurons of the mouse mutant progressive motor neuronopathy (pmn/pmn) [14].

Analytical, diagnostic and therapeutic context of Tbce


  1. Ciliary neurotrophic factor prevents degeneration of motor neurons in mouse mutant progressive motor neuronopathy. Sendtner, M., Schmalbruch, H., Stöckli, K.A., Carroll, P., Kreutzberg, G.W., Thoenen, H. Nature (1992) [Pubmed]
  2. GDNF slows loss of motoneurons but not axonal degeneration or premature death of pmn/pmn mice. Sagot, Y., Tan, S.A., Hammang, J.P., Aebischer, P., Kato, A.C. J. Neurosci. (1996) [Pubmed]
  3. Aliphatic propargylamines as symptomatic and neuroprotective treatments for neurodegenerative diseases. Berry, M.D., Boulton, A.A. Neurotoxicology and teratology. (2002) [Pubmed]
  4. A missense mutation in Tbce causes progressive motor neuronopathy in mice. Martin, N., Jaubert, J., Gounon, P., Salido, E., Haase, G., Szatanik, M., Guénet, J.L. Nat. Genet. (2002) [Pubmed]
  5. Gene therapy of murine motor neuron disease using adenoviral vectors for neurotrophic factors. Haase, G., Kennel, P., Pettmann, B., Vigne, E., Akli, S., Revah, F., Schmalbruch, H., Kahn, A. Nat. Med. (1997) [Pubmed]
  6. 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. J. Cell Biol. (2002) [Pubmed]
  7. Endogenous ciliary neurotrophic factor is a lesion factor for axotomized motoneurons in adult mice. Sendtner, M., Götz, R., Holtmann, B., Thoenen, H. J. Neurosci. (1997) [Pubmed]
  8. Bcl-2 overexpression prevents motoneuron cell body loss but not axonal degeneration in a mouse model of a neurodegenerative disease. Sagot, Y., Dubois-Dauphin, M., Tan, S.A., de Bilbao, F., Aebischer, P., Martinou, J.C., Kato, A.C. J. Neurosci. (1995) [Pubmed]
  9. Inhibiting axon degeneration and synapse loss attenuates apoptosis and disease progression in a mouse model of motoneuron disease. Ferri, A., Sanes, J.R., Coleman, M.P., Cunningham, J.M., Kato, A.C. Curr. Biol. (2003) [Pubmed]
  10. Adenovirus-mediated transfer of the neurotrophin-3 gene into skeletal muscle of pmn mice: therapeutic effects and mechanisms of action. Haase, G., Pettmann, B., Vigne, E., Castelnau-Ptakhine, L., Schmalbruch, H., Kahn, A. J. Neurol. Sci. (1998) [Pubmed]
  11. Phosphatidylinositol 3-kinase activity in murine motoneuron disease: the progressive motor neuropathy mouse. Wagey, R., Lurot, S., Perrelet, D., Pelech, S.L., Sagot, Y., Krieger, C. Neuroscience (2001) [Pubmed]
  12. New isomeric azine-bridged dinuclear platinum(II) complexes circumvent cross-resistance to cisplatin. Komeda, S., Kalayda, G.V., Lutz, M., Spek, A.L., Yamanaka, Y., Sato, T., Chikuma, M., Reedijk, J. J. Med. Chem. (2003) [Pubmed]
  13. An inhibitor of serine proteases, neuroserpin, acts as a neuroprotective agent in a mouse model of neurodegenerative disease. Simonin, Y., Charron, Y., Sonderegger, P., Vassalli, J.D., Kato, A.C. J. Neurosci. (2006) [Pubmed]
  14. Increased accumulation of transferrin by motor neurons of the mouse mutant progressive motor neuronopathy (pmn/pmn). Moos, T. J. Neurocytol. (1995) [Pubmed]
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