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Artículo
A Poglut1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
(Wiley-Blackwell Publishing Ltd., 2016)
Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limbgirdle muscular dystrophy, we ...
Tesis Doctoral
Presynaptic calcium dynamics, neuronal excitability and synaptic vesicle Cycle in central synapses lacking cysteine string protein-alpha (CSP-ALPHA).
(2017-12-22)
Cysteine String Protein-α (CSP-α) is a molecular co-chaperone of the synaptic vesicles that prevents presynaptic degeneration. The role of CSP-α in the machinery of calcium dependent release of neurotransmitter from synaptic ...
Tesis Doctoral
Estudio del papel de CSPa/DNAJC5 en la función y mantenimiento de las sinapsis glutamatérgicas del hipocampo en ratones adultos
(2023-07-14)
La cochaperona sináptica Cysteine String Protein CSP /DNAJC5) se ha implicado en la patogénesis de enfermedades neurodegenerativas como la lipofuscinosis neuronal ceroidea autosómica dominante del adulto (enfermedad de ...