Cargando…
Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy
Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by deleterious variants in SMN1 that lead to a marked decrease in survival motor neuron (SMN) protein expression. Humans have a second SMN gene (SMN2) that is almost identical to SMN1. However, due to alternative splicing the...
Autores principales: | Groen, Ewout J N, Perenthaler, Elena, Courtney, Natalie L, Jordan, Crispin Y, Shorrock, Hannah K, van der Hoorn, Dinja, Huang, Yu-Ting, Murray, Lyndsay M, Viero, Gabriella, Gillingwater, Thomas H |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6077828/ https://www.ncbi.nlm.nih.gov/pubmed/29790918 http://dx.doi.org/10.1093/hmg/ddy195 |
Ejemplares similares
-
In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology
por: Bernabò, Paola, et al.
Publicado: (2017) -
SMN-primed ribosomes modulate the translation of transcripts related to Spinal Muscular Atrophy
por: Lauria, Fabio, et al.
Publicado: (2020) -
Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy
por: Shorrock, Hannah K., et al.
Publicado: (2018) -
Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy
por: Hunter, Gillian, et al.
Publicado: (2016) -
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy
por: Shorrock, Hannah K, et al.
Publicado: (2018)