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Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice
The gad mutation is caused by an in-frame deletion including exons 7 and 8 of Uchl1, encoding the ubiquitin carboxy-terminal hydrolase (UCH) isozyme (Uch-l1) selectively expressed in the nervous system and testis.
Caveolin-3 deficiency causes muscle degeneration in mice.
No apparent muscle degeneration was observed in heterozygous mutant mice, indicating that pathological changes caused by caveolin-3 gene disruption were inherited through the recessive form of genetic transmission.
Axonal degeneration of ascending sensory neurons in gracile axonal dystrophy mutant mouse
The results indicate that this mutant mouse is a potential animal model for human degenerative disease of the nervous system, such as neuroaxonal dystrophy and the spinocerebellar ataxia.
Polyglutamine aggregates stimulate ER stress signals and caspase-12 activation.
Poly(Q)72 repeats induced the stimulation of ER stress signals such as JNK activation, upregulation of Grp78/Bip and caspase-12 activation in C2C5 cells, which may be involved in the pathogenesis of neurodegenerative disorders with poly( Q) expansion.
Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.
- T. Kikuchi, H. W. Yang, Y. T. Chen
- Biology, MedicineThe Journal of clinical investigation
- 15 February 1998
The data are the first to show that an exogenous protein can target to muscle and produce muscle improvement and suggest enzyme replacement with recombinant human GAA is a promising therapy for human Pompe disease.
Gracile Axonal Dystrophy (GAD), a New Neurological Mutant in the Mouse
- K. Yamazaki, N. Wakasugi, T. Tomita, T. Kikuchi, M. Mukoyama, K. Ando
- BiologyProceedings of the Society for Experimental…
- 1 February 1988
Pathological examination revealed neuroaxonal dystrophy and degeneration in thegracile nucleus of the medulla oblongata and the gracile fascicules of the spinal cord, which could be the main cause of the clinical signs.
Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
This is the first report that palmitoyl transferase deficiency causes a severe phenotype, and it establishes a direct link between protein palMIToylation and regulation of diverse physiologic functions where its absence can result in profound disease pathology.
Mutations in the SLC2A10 gene cause arterial abnormalities in mice.
- Chao-Hung Cheng, T. Kikuchi, Yuan-Tsong Chen
- Medicine, BiologyCardiovascular research
- 21 November 2008
Abnormal elastogenesis with early elastic fibre proliferation provides a clue to the pathogenesis of arterial tortuosity in human ATS.
Progressive degeneration of motor nerve terminals in GAD mutant mouse with hereditary sensory axonopathy
- H. Miura, K. Oda, C. Endo, K. Yamazaki, H. Shibasaki, T. Kikuchi
- BiologyNeuropathology and applied neurobiology
- 1 February 1993
Results indicate that, as previously observed in sensory nerves, dying back degeneration progresses later in the lower motor neuron system, even within one muscle, and the mechanism(s) influencing the activation of axonal regeneration are discussed.
Characterization of the testis in congenitally ubiquitin carboxy-terminal hydrolase-1 (Uch-L1) defective (gad) mice.
This study is the first report on the testis of gad mutant mouse, where a significant decrease in the number of proliferating cell nuclear antigen positive cells was observed and Expression of other UCH isozyme mRNAs was not apparently affected by Uch-L1 deficiency in 25-week-old gad mice.