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A VARIANT OF NESPRIN1 GIANT DEVOID OF KASH DOMAIN UNDERLIES THE MOLECULAR ETIOLOGY OF AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA TYPE I
Nonsense mutations across the whole coding sequence of Syne1/ Nesprin1 have been linked to Autosomal Recessive Cerebellar Ataxia Type I (ARCA1). However, nothing is known about the molecular etiology of this late-onset debilitating pathology. In this work, we report that Nesprin1 giant is specifical...
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| Vydáno v: | Neurobiol Dis |
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| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2015
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4426048/ https://ncbi.nlm.nih.gov/pubmed/25843669 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2015.03.027 |
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