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Artículo
Increased neurotransmitter release at the neuromuscular junction in a mouse model of polyglutamine disease
(2011)
In Huntington’s disease (HD), the expansion of polyglutamine (polyQ) repeats at the N terminus of the ubiquitous protein huntingtin (htt) leads to neurodegeneration in specific brain areas. Neurons degenerating in HD develop ...
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 ...
Artículo
Cysteine String Protein- Prevents Activity-Dependent Degeneration in GABAergic Synapses
(2010)
The continuous release of neurotransmitter could be seen to place a persistent burden on presynaptic proteins, one that could compromise nerve terminal function. This supposition and the molecular mechanisms that might ...