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Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes

Spinal muscular atrophy (SMA), a degenerative motor neuron (MN) disease, caused by loss of functional survival of motor neuron (SMN) protein due to SMN1 gene mutations, is a leading cause of infant mortality. Increasing SMN levels ameliorates the disease phenotype and is unanimously accepted as a th...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:J Clin Invest
Hauptverfasser: Rodriguez-Muela, Natalia, Parkhitko, Andrey, Grass, Tobias, Gibbs, Rebecca M., Norabuena, Erika M., Perrimon, Norbert, Singh, Rajat, Rubin, Lee L.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2018
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6025996/
https://ncbi.nlm.nih.gov/pubmed/29672276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI95231
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