MRI features in a rat model of H-ABC tubulinopathy

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dc.audiencegeneralPublices_MX
dc.contributor.authorCortes Sánchez, Ma. del Carmen
dc.contributor.authorEguibar Cuenca, José Ramon
dc.contributor.authorGarduno Robles, Angeles
dc.contributor.authorAlata Tejedo, Milvia Iris
dc.contributor.authorPiazza, Valeria
dc.contributor.authorPantano, Sergio
dc.contributor.authorHernández González, Víctor Hugo
dc.creatorCortes Sánchez, Ma. del Carmen; 0000-0002-9163-2665
dc.creatorEguibar Cuenca, José Ramon, 0000-0001-6594-1141
dc.creatorGarduno Robles, Angeles; 0000-0002-3360-800X
dc.date.accessioned2023-03-22T16:21:58Z
dc.date.available2023-03-22T16:21:58Z
dc.date.issued2020-06-03
dc.description.abstract"Tubulinopathies are a group of recently described diseases characterized by mutations in the tubulin genes. Mutations in TUBB4A produce diseases such as dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), which are clinically diagnosed by magnetic resonance imaging (MRI). We propose the taiep rat as the first animal model for tubulinopathies. The spontaneous mutant suffers from a syndrome related to a central leukodystrophy and characterized by tremor, ataxia, immobility, epilepsy, and paralysis. The pathological signs presented by these rats and the morphological changes we found by our longitudinal MRI study are similar to those of patients with mutations in TUBB4A. The diffuse atrophy we found in brain, cerebellum and spinal cord is related to the changes detectable in many human tubulinopathies and in particular in H-ABC patients, where myelin degeneration at the level of putamen and cerebellum is a clinical trademark of the disease. We performed Tubb4a exon analysis to corroborate the genetic defect and formulated hypotheses about the effect of amino acid 302 change on protein physiology. Optical microscopy of taiep rat cerebella and spinal cord confirmed the optical density loss in white matter associated with myelin".es_MX
dc.identifierhttps://doi.org/10.3389/fnins.2020.00555
dc.identifier.urihttps://hdl.handle.net/20.500.12371/17885
dc.language.isoenges_MX
dc.rights.accesopenAccesses_MX
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0es_MX
dc.subject.otherHypo/demyelinationes_MX
dc.subject.otherTubulinopathieses_MX
dc.subject.otherH-ABCes_MX
dc.subject.otherTaiepes_MX
dc.subject.otherMRIes_MX
dc.subject.otherOptical microscopyes_MX
dc.subject.otherLeukodystrophyes_MX
dc.titleMRI features in a rat model of H-ABC tubulinopathyes_MX
dc.typeArtículoes_MX
dc.type.conacytarticlees_MX
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