The Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Gene VRK1 Regulates Neuronal Migration through an Amyloid-β Precursor Protein-Dependent Mechanism

Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) is an infantile SMA variant with additional manifestations, particularly severe microcephaly. We previously identified a nonsense mutation in Vaccinia-related kinase 1 (VRK1), R358X, as a cause of SMA-PCH. VRK1-R358X is a rare founder...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Neurosci
Prif Awduron: Vinograd-Byk, Hadar, Sapir, Tamar, Cantarero, Lara, Lazo, Pedro A., Zeligson, Sharon, Lev, Dorit, Lerman-Sagie, Tally, Renbaum, Paul, Reiner, Orly, Levy-Lahad, Ephrat
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Society for Neuroscience 2015
Pynciau:
Brief Communications
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6605533/
https://ncbi.nlm.nih.gov/pubmed/25609612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.1998-14.2015
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