The pathogenesis of globoid cell leucodystrophy in peripheral nerve of the mouse mutant twitcher☆
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Cited by (45)
Long-Term Improvement of Neurological Signs and Metabolic Dysfunction in a Mouse Model of Krabbe's Disease after Global Gene Therapy
2018, Molecular TherapyCitation Excerpt :The mean amount of psychosine measured within each fraction is shown in Figures 4B–4F (P40 TWI-AAV and P40 TWI-AAV + BMT not shown due to undetectable levels). A key pathological hallmark of KD is a generalized and diffuse demyelination of the CNS and PNS,5,31 a feature we observed via electron microscopy (Figure 5A) and immunoblotting (Figures S8A and S8B) in TWI. Compared to WT (Figure 5B), BMT (Figure 5C) resulted in mild improvement to myelination as assessed via G-ratio measurements (Figure 5J) and motor conduction velocity (MCV) (Figure 5K), which each revealed mild yet significant improvements after BMT.
Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease
2014, Neurobiology of DiseaseCitation Excerpt :In these animals, a dying-back neuropathy has been proposed, since apoptosis of motor neurons develops later, while in the sciatic nerve, distal axonal defects are already evident before myelin loss occurs (Castelvetri et al., 2011). Despite the presence of axonopathy, there is still conflicting evidence as to axonal loss in Twitcher nerves (Jacobs et al., 1982; Kobayashi et al., 1988; Tanaka et al., 1988). The characterization of axonal pathology in KD is still limited, and its understanding is of great interest since therapies devised for this disorder, including enzyme replacement therapy, gene therapy and cell transplantation aim mainly at targeting myelinating cells whereas neuroprotective strategies have been neglected.
Psychosine induces the dephosphorylation of neurofilaments by deregulation of PP1 and PP2A phosphatases
2012, Neurobiology of DiseaseCitation Excerpt :For example, tremor, ataxia, progressive impairment of locomotion skills and muscle atrophy appear in Twitcher mice at about P20. The cause of these symptoms has been historically linked to the ongoing demyelination (Jacobs et al., 1982; Kobayashi et al., 1988; Taniike and Suzuki, 1994). However, a study done by Olmstead (1987) reported a subtle neurological phenotype in young mutants.
Effect of intrastriatal mesenchymal stromal cell injection on progression of a murine model of Krabbe disease
2011, Behavioural Brain ResearchCitation Excerpt :They were used for initial studies of BMT, resulting in a lifespan increase from 40 to 100 days [39,40]. In human infants the CNS is primarily affected; however, in the twitcher mice the PNS is primarily affected [41,42]. Thus, for early stage studies attempting to assess new treatments specifically targeted to the CNS, successful use of the twitcher model requires the ability to detect very subtle differences in outcome as a result of improved CNS pathology that can be observed despite continued deterioration of the PNS.
Factors that affect postnatal bone growth retardation in the twitcher murine model of Krabbe disease
2010, Biochimica et Biophysica Acta - Molecular Basis of Disease
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This research was supported by the Brain Research Trust and a WHO fellowship (F.T.A.).
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Present address: Division de Patologia, Unidad de Investigacion Biomedica del Centro Medico Nacional, Apdo. Postal 73-032, Mexico 7, D.F.