Browsing by Author "Nieto González, José Luis"
Now showing items 1-9 of 9
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Article
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 ...
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Article
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy
(Springer Nature, 2019-03-01)TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving ...
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PhD Thesis
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 ...
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PhD Thesis
Estudio electrofisiológico del disparo repetitivo y su modulación colinérgica en las motoneuronas del núcleo motor ocular común
(2007)Los objetivos generales de este trabajo fueron, por un lado, estudiar la influencia de las propiedades intrínsecas de ...
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Article
Microglia mitochondrial complex I deficiency during development induces glial dysfunction and early lethality
(Nature, 2024-07-24)Primary mitochondrial diseases (PMDs) are associated with pediatric neurological disorders and are traditionally related ...
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Article
Neurexin Dysfunction in Adult Neurons Results in Autistic-like Behavior in Mice
(Cell Press, 2014)Autism spectrum disorders (ASDs) comprise a group of clinical phenotypes characterized by repetitive behavior and social ...
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PhD Thesis
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. ...
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Article
Substantia nigra dopaminergic neurons and striatalinterneurons are engaged in three parallel but interdependentpostnatal neurotrophic circuits
(Anatomical Society of Great Britain and Ireland, 2018-06-11)The striatum integrates motor behavior using a well‐defined microcircuit whose individual components are independently ...