Buscar
Mostrando ítems 1-10 de 13
Artículo
Altered Intracellular Ca2+ Homeostasis in Nerve Terminals of Severe Spinal Muscular Atrophy Mice
(SOC NEUROSCIENCE, 2010)
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 ...
Artículo
Morphological and functional remodelling of the neuromuscular junction by skeletal muscle PGC-1 alpha
(NATURE PUBLISHING GROUP, 2014-04-04)
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 ...
Artículo
HERC 1 Ubiquitin Ligase Mutation Affects Neocortical, CA3 Hippocampal and Spinal Cord Projection Neurons: An Ultrastructural Study
(Frontiers Media, 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 leads to the increase of mutated protein levels responsible for ...
Artículo
Active zones and the readily releasable pool of synaptic vesicles at the neuromuscular junction of the mouse
(SOC NEUROSCIENCE, 2011-02-09)
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 ...
Artículo
Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy
(OXFORD UNIV PRESS, 2010)
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 ...
Artículo
TET2 Regulates the Neuroinflammatory Response in Microglia
(Elsevier, 2019)
Epigenomic mechanisms regulate distinct aspects of the inflammatory response in immune cells. Despite the central role for microglia in neuroinflammation and neurodegeneration, little is known about their epigenomic ...
Artículo
HERC1 Ubiquitin Ligase Is Required for Hippocampal Learning and Memory
(Frontiers Media, 2020)
Mutations in the human HERC1 E3 ubiquitin ligase protein develop intellectual disability. The tambaleante (tbl) mouse carries a HERC1 mutation characterized by cerebellar ataxia due of adult cerebellar Purkinje cells death ...
Artículo
CSPα, a molecular co-chaperone essential for short and long-term synaptic maintenance
(Frontiers Media S.A., 2017-02-10)
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 ...
Artículo
Synaptic defects in spinal muscular atrophy animal models
(Wiley, 2011)
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) ...
Artículo
HERC1 Ubiquitin Ligase Is Required for Normal Axonal Myelination in the Peripheral Nervous System
(Springer, 2018-03-30)
A missense mutation in HERC1 provokes loss of cerebellar Purkinje cells, tremor, and unstable gait in tambaleante (tbl) mice. Recently, we have shown that before cerebellar degeneration takes place, the tbl mouse suffers ...