Article
LMNA Mutations G232E and R482L Cause Dysregulation of Skeletal Muscle Differentiation, Bioenergetics, and Metabolic Gene Expression Profile.
Genes - 7 Sept 2020
Ignatieva Elena V, Ivanova Oksana A, Komarova Margarita Y, Khromova Natalia V, Polev Dmitrii E, Kostareva Anna A, Sergushichev Alexey, Dmitrieva Renata I
Abstract excerpt
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 that remain largely unknown. We have employed the combination of functional in vitro experiments and transcriptome...
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