Search Results - "Armengol, Jose Angel"
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The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination
Published in Oncotarget (30-08-2016)“…A mutation in the HERC2 gene has been linked to a severe neurodevelopmental disorder with similarities to the Angelman syndrome. This gene codifies a protein…”
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Selective deletion of Caspase-3 gene in the dopaminergic system exhibits autistic-like behaviour
Published in Progress in neuro-psychopharmacology & biological psychiatry (10-01-2021)“…Apoptotic caspases are thought to play critical roles in elimination of excessive and non-functional synapses and removal of extra cells during early…”
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Early dendritic development of Purkinje cells in the rat cerebellum. A light and electron microscopic study using axonal tracing in 'in vitro' slices
Published in Brain research. Developmental brain research (17-12-1991)“…The early stages in the formation of Purkinje cell dendritic arbors have been analyzed using the horseradish peroxidase (HRP) 'in vitro' axonal tracing method,…”
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The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement
Published in International journal of molecular sciences (03-09-2020)“…Neuromuscular disorders (NMDs) affect 1 in 3000 people worldwide. There are more than 150 different types of NMDs, where the common feature is the loss of…”
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SMN Is Physiologically Downregulated at Wild-Type Motor Nerve Terminals but Aggregates Together with Neurofilaments in SMA Mouse Models
Published in Biomolecules (Basel, Switzerland) (01-10-2022)“…Survival motor neuron (SMN) is an essential and ubiquitously expressed protein that participates in several aspects of RNA metabolism. SMN deficiency causes a…”
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Patient-Derived Cellular Models for Polytarget Precision Medicine in Pantothenate Kinase-Associated Neurodegeneration
Published in Pharmaceuticals (Basel, Switzerland) (26-09-2023)“…The term neurodegeneration with brain iron accumulation (NBIA) brings together a broad set of progressive and disabling neurological genetic disorders in which…”
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HERC 1 Ubiquitin Ligase Mutation Affects Neocortical, CA3 Hippocampal and Spinal Cord Projection Neurons: An Ultrastructural Study
Published in Frontiers in neuroanatomy (18-04-2016)“…The spontaneous mutation tambaleante is caused by the Gly483Glu substitution in the highly conserved N terminal RCC1-like domain of the HERC1 protein, which…”
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8
The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination
Published in Oncotarget (12-08-2016)“…A mutation in the HERC2 gene has been linked to a severe neurodevelopmental disorder with similarities to the Angelman syndrome. This gene codifies a protein…”
Get full text
Journal Article -
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HERC1 Ubiquitin Ligase Is Required for Normal Axonal Myelination in the Peripheral Nervous System
Published in Molecular neurobiology (01-12-2018)“…A missense mutation in HERC1 provokes loss of cerebellar Purkinje cells, tremor, and unstable gait in tambaleante ( tbl ) mice. Recently, we have shown that…”
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Transforming Growth Factor-ß1 (TGF-ß1) immunoreactivity in heterotopic grafts of adult dental apical papilla
Published in Journal of oral research (01-02-2015)“…Objetivo: Analizar la expresión del factor transformador del crecimiento-ß1 en trasplantes heterotópicos de papila dental del incisivo de la rata adulta…”
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The avian inferior olive derives from the alar neuroepithelium of the rhombomeres 7 and 8: an analysis by using chick-quail chimeric embryos
Published in Neuroreport (17-05-1996)“…Homotopic and isochronic transplantation of the alar plate of the rhombomeres 7 and 8 was performed between chick and quail embryos at the stage of 10-14…”
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HERC 1 Ubiquitin Ligase Mutation Affects Neocortical, CA3 Hippocampal and Spinal Cord Projection Neurons: An Ultrastructural Study
Published in Frontiers in neuroanatomy (18-04-2016)“…The spontaneous mutation tambaleante is caused by the Gly483Glu substitution in the highly conserved N terminal RCC1-like domain of the HERC1 protein, which…”
Get full text
Journal Article -
14
The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination
Published in Oncotarget (12-08-2016)“…A mutation in the HERC2 gene has been linked to a severe neurodevelopmental disorder with similarities to the Angelman syndrome. This gene codifies a protein…”
Get full text
Journal Article -
15
The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination
Published in Oncotarget (12-08-2016)“…A mutation in the HERC2 gene has been linked to a severe neurodevelopmental disorder with similarities to the Angelman syndrome. This gene codifies a protein…”
Get full text
Journal Article -
16
Motor learning of mice lacking cerebellar Purkinje cells
Published in Frontiers in neuroanatomy (2013)“…The cerebellum plays a key role in the acquisition and execution of motor tasks whose physiological foundations were postulated on Purkinje cells' long-term…”
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Morphological evidence for the presence of ipsilateral inferior olivary neurons during postnatal development of the olivocerebellar projection in the rat
Published in Journal of comparative neurology (1911) (15-12-1994)“…The presence of ipsilateral inferior olivary neurons during postnatal development of the olivocerebellar projection in the rat was investigated by two in vitro…”
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