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Artículo
Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular Atrophy
(OXFORD UNIV PRESS, 2016)
Spinal muscular atrophy (SMA) is the most frequent genetic cause of infant mortality. The disease is characterized by progressive muscle weakness and paralysis of axial and proximal limb muscles. It is caused by homozygous ...
Artículo
Carbonic anhydrase inhibitor acetazolamide shifts synaptic vesicle recycling to a fast mode at the mouse neuromuscular junction
(Wiley, 2017)
Acetazolamide (AZ), a molecule frequently used to treat different neurological syndromes, is an inhibitor of the carbonic anhydrase (CA), an enzyme that regulates pH inside and outside cells. We combined fluorescent FM ...
Artículo
Syntaxin 1B is important for mouse postnatal survival and proper synaptic function at the mouse neuromuscular junctions
(AMER PHYSIOLOGICAL SOC, 2015)
Syntaxin 1B is important for mouse postnatal survival and proper synaptic function at the mouse neuromuscular junctions. J Neurophysiol 114: 2404 –2417, 2015. First published July 22, 2015; doi:10.1152/jn.00577.2015.—STX1 ...
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) ...