ArticleThe Journal of cell biology2002
Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease.
Article in The Journal of cell biology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 118 citations in OpenAlex.
- Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati syndrome: an international rare disease registry study.The Journal of clinical endocrinology and metabolism · 2026Article
- Microtubules, Membranes, and Movement: New Roles for Stathmin-2 in Axon Integrity.Journal of neuroscience research · 2024Review
- Review
- Pegylated Insulin-Like Growth Factor 1 attenuates Hair Cell Loss and promotes Presynaptic Maintenance of Medial Olivocochlear Cholinergic Fibers in the Cochlea of the Progressive Motor Neuropathy Mouse.Frontiers in neurology · 2022Article
- Spatio-temporal distribution of tubulin-binding cofactors and posttranslational modifications of tubulin in the cochlea of mice.Histochemistry and cell biology · 2020Article
- Omics Approach to Axonal Dysfunction of Motor Neurons in Amyotrophic Lateral Sclerosis (ALS).Frontiers in neuroscience · 2020Review
- Imbalanced Expression of Tau and Tubulin Induces Neuronal Dysfunction inFrontiers in neuroscience · 2018Article
- Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?Neurobiology of disease · 2017Review
- Sensory neuropathy in progressive motor neuronopathy (pmn) mice is associated with defects in microtubule polymerization and axonal transport.Brain pathology (Zurich, Switzerland) · 2017Article
- BDNF/trkB Induction of Calcium Transients through CaFrontiers in molecular neuroscience · 2017Article
- TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.American journal of human genetics · 2016Article
- A conceptual view at microtubule plus end dynamics in neuronal axons.Brain research bulletin · 2016Review
- Neurofilament depletion improves microtubule dynamics via modulation of Stat3/stathmin signaling.Acta neuropathologica · 2016Article
- The cytoskeletal arrangements necessary to neurogenesis.Oncotarget · 2016Review
- Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.Neuron · 2014Article
- Loss of MEC-17 leads to microtubule instability and axonal degeneration.Cell reports · 2014Article
- Mechanisms for axon maintenance and plasticity in motoneurons: alterations in motoneuron disease.Journal of anatomy · 2014Review
- The intricate relationship between microtubules and their associated motor proteins during axon growth and maintenance.Neural development · 2013Review
- The wobbler mouse, an ALS animal model.Molecular genetics and genomics : MGG · 2013Review
- The Microtubule Regulatory Protein Stathmin Is Required to Maintain the Integrity of Axonal Microtubules in Drosophila.PloS one · 2013Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Progressive motor neuronopathy (pmn) mutant mice have been widely used as a model for human motoneuron disease. Mice that are homozygous for the pmn gene defect appear healthy at birth but develop progressive motoneuron disease, resulting in severe skeletal muscle weakness and respiratory failure by postnatal week 3. The disease starts at the motor endplates, and then leads to axonal loss and finally to apoptosis of the corresponding cell bodies. We localized the genetic defect in pmn mice to a missense mutation in the tubulin-specific chaperone E (Tbce) gene on mouse chromosome 13. The human orthologue maps to chromosome 1q42.3. The Tbce gene encodes a protein (cofactor E) that is essential for the formation of primary alpha-tubulin and beta-tubulin heterodimeric complexes. Isolated motoneurons from pmn mutant mice exhibit shorter axons and axonal swelling with irregularly structured beta-tubulin and tau immunoreactivity. Thus, the pmn gene mutation provides the first genetic evidence that alterations in tubulin assembly lead to retrograde degeneration of motor axons, ultimately resulting in motoneuron cell death.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.