LMNA Mutations G232E and R482L Cause Dysregulation of Skeletal Muscle Differentiation, Bioenergetics, and Metabolic Gene Expression Profile

Laminopathies are a family of monogenic multi-system diseases resulting from mutations in the LMNA gene which include a wide range of neuromuscular disorders. Although lamins are expressed in most types of differentiated cells, LMNA mutations selectively affect only specific tissues by mechanisms th...

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Vydáno v:Genes (Basel)
Hlavní autoři: Ignatieva, Elena V., Ivanova, Oksana A., Komarova, Margarita Y., Khromova, Natalia V., Polev, Dmitrii E., Kostareva, Anna A., Sergushichev, Alexey, Dmitrieva, Renata I.
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7563596/
https://ncbi.nlm.nih.gov/pubmed/32906763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11091057
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