El objetivo principal de esta Tesis Doctoral ha sido el estudio de la transmisión sináptica en la unión neuromuscular. El abordaje que hemos llevado a cabo ha sido triple: - BLOQUE 1: Estudio de la transmisión sináptica en tiempo real en la unión neuromuscular de un ratón transgénico para la proteína de fusión sinaptopHluorina (spH). Análisis...
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August 31, 2015 (v1)PublicationUploaded on: December 4, 2022
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May 24, 2023 (v1)Publication
Proximal spinal muscular atrophy, the most frequent genetic cause of childhood lethality, is caused by homozygous loss or mutation of the SMN1 gene on human chromosome 5, which codes for the survival motor neuron (SMN) protein. SMN plays a role in the assembly of small nuclear ribonucleoproteins and, additionally, in synaptic function. SMN...
Uploaded on: May 26, 2023 -
July 17, 2017 (v1)Publication
Cysteine string protein a (CSPα) is a vesicle protein located in the presynaptic terminal of most synapses. CSPα is an essential molecular co-chaperone that facilitates the correct folding of proteins and the assembly of the exocytic machinery. The absence of this protein leads to altered neurotransmitter release and neurodegeneration in...
Uploaded on: March 26, 2023 -
June 20, 2017 (v1)Publication
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 with ubiquitin ligase activity that regulates the activity of tumor protein p53 and is involved in important cellular processes such as DNA repair, cell cycle, cancer, and iron metabolism....
Uploaded on: March 26, 2023 -
May 25, 2023 (v1)Publication
Cysteine string protein (CSPa) is a synaptic vesicle protein present in most central and peripheral nervous system synapses. Previous studies demonstrated that the deletion of CSPa results in postnatal sensorial and motor impairment and premature lethality. To understand the participation of CSPa in neural function in vertebrates, we have...
Uploaded on: May 26, 2023 -
May 11, 2023 (v1)Publication
Proximal spinal muscular atrophy (SMA) is caused by homozygous loss or mutation of the SMN1 gene on human chromosome 5. Depending on the levels of SMN protein produced from a second SMN gene (SMN2), different forms of the disease are distinguished. In patients with milder forms of the disease, type III or type IV SMA that normally reach...
Uploaded on: May 13, 2023 -
May 18, 2023 (v1)Publication
Low levels of survival motor neuron (SMN) protein result in spinal muscular atrophy (SMA), a severe genetic disease characterized by motor impairment and premature lethality. Although SMN is a ubiquitous protein, motor neurons are much more vulnerable to low levels of SMN than other cells. To gain insight into the pathogenesis of SMA, we have...
Uploaded on: May 20, 2023 -
May 6, 2020 (v1)Publication
The spontaneous mutation tambaleante is caused by the Gly483Glu substitution in the highly conserved N terminal RCC1-like domain of the HERC1 protein, which leads to the increase of mutated protein levels responsible for cerebellar Purkinje cell death by autophagy. Until now, Purkinje cells have been the only central nervous neurons reported as...
Uploaded on: December 4, 2022 -
April 19, 2023 (v1)Publication
Background Alzheimer's disease (AD) is a progressive multifaceted neurodegenerative disorder for which no disease-modifying treatment exists. Neuroinflammation is central to the pathology progression, with evidence suggesting that microglia-released galectin-3 (gal3) plays a pivotal role by amplifying neuroinflammation in AD. However, the...
Uploaded on: April 20, 2023 -
May 11, 2023 (v1)Publication
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a fatal autosomal recessive disorder seen in infants. It is characterized by lower motor neuron degeneration, progressive muscle paralysis and respiratory failure, for which no effective treatment exists. The phenotype of neuromuscular degeneration (nmd ) mice closely...
Uploaded on: May 13, 2023 -
May 19, 2023 (v1)Publication
Synchronous neurotransmitter releaseis a highly regulated processthattakes place at specializations atthe presynapticmembrane called active zones (AZs). The relationships between AZs, quantal release, and vesicle replenishment are not well understood in a mature synapse. We have measured the number, distribution, and other properties of AZs in...
Uploaded on: May 20, 2023 -
January 27, 2022 (v1)Publication
The HERC protein family is one of three subfamilies of Homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases. Six HERC genes have been described in humans, two of which encode Large HERC proteins -HERC1 and HERC2- with molecular weights above 520 kDa that are constitutively expressed in the brain. There is a large body of evidence that...
Uploaded on: December 5, 2022 -
May 5, 2021 (v1)Publication
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a childhood motoneuron disease caused by mutations in the gene encoding for IGHMBP2, an ATPase/Helicase. Paralysis of the diaphragm is an early and prominent clinical sign resulting both from denervation and myopathy. In skeletal muscles, muscle atrophy mainly results from...
Uploaded on: March 25, 2023 -
May 19, 2023 (v1)Publication
The neuromuscular junction (NMJ) exhibits high morphological and functional plasticity. In the mature muscle, the relative levels of physical activity are the major determinants of NMJ function. Classically, motor neuron-mediated activation patterns of skeletal muscle have been thought of as the major drivers of NMJ plasticity and the ensuing...
Uploaded on: May 20, 2023 -
March 27, 2020 (v1)Publication
Las Escape Rooms son un tipo de recurso que está siendo utilizado por muchos educadores, propiciando elementos de colaboración que ayudan a desarrollar habilidades sociales. En este estudio se ha desarrollado una Escape Room multidisciplinar como herramienta educativa con el fin de mejorar el aprendizaje de los estudiantes y prepararlos para el...
Uploaded on: March 25, 2023 -
February 26, 2024 (v1)Publication
Background Blood OX40-expressing CD4 T-cells from antiretroviral (ART)-treated people living with HIV (PWH) were found to be enriched for clonally-expanded HIV sequences, hence contributing to the HIV reservoir. OX40-OX40L is also a checkpoint regulator of inflammation in multiple diseases. We explored gut mucosal OX40+CD4+ T-cells and their...
Uploaded on: February 28, 2024 -
May 7, 2021 (v1)Publication
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has spread around the globe causing coronavirus disease 2019 (COVID-19). Because it affects the respiratory system, common symptoms are cough and breathing difficulties with fever and fatigue. Also, some cases progress to acute respiratory distress syndrome (ARDS). The acute phase...
Uploaded on: March 25, 2023 -
July 21, 2022 (v1)Publication
The advent of high-throughput single-cell transcriptomic analysis of microglia has revealed different phenotypes that are inherently associated with disease conditions. A common feature of some of these activated phenotypes is the upregulation of galectin-3. Representative examples of these phenotypes include disease-associated microglia (DAM)...
Uploaded on: December 5, 2022