Conditional deletion of SMN in cell culture identifies functional SMN alleles

Spinal muscular atrophy (SMA) is caused by mutation or deletion of survival motor neuron 1 (SMN1) and retention of SMN2 leading to SMN protein deficiency. We developed an immortalized mouse embryonic fibroblast (iMEF) line in which full-length wild-type Smn (flwt-Smn) can be conditionally deleted us...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Blatnik, Anton J, McGovern, Vicki L, Le, Thanh T, Iyer, Chitra C, Kaspar, Brian K, Burghes, Arthur H M
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
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General Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7946624/
https://ncbi.nlm.nih.gov/pubmed/33075805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa229
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