SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy

Beyond motor neuron degeneration, homozygous mutations in the survival motor neuron 1 (SMN1) gene cause multiorgan and metabolic defects in patients with spinal muscular atrophy (SMA). However, the precise biochemical features of these alterations and the age of onset in the brain and peripheral org...

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Detalles Bibliográficos
Autores principales: Valsecchi, Valeria, Errico, Francesco, Bassareo, Valentina, Marino, Carmen, Nuzzo, Tommaso, Brancaccio, Paola, Laudati, Giusy, Casamassa, Antonella, Grimaldi, Manuela, D’Amico, Adele, Carta, Manolo, Bertini, Enrico, Pignataro, Giuseppe, D’Ursi, Anna Maria, Usiello, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10643621/
https://www.ncbi.nlm.nih.gov/pubmed/37957344
http://dx.doi.org/10.1038/s42003-023-05543-1

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