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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
Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ
(Elsevier, 2013-06)
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 ...