Article
LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.
Human molecular genetics - 1 Apr 2012
Dialynas George, Flannery Kaitlin M, Zirbel Luka N, Nagy Peter L, Mathews Katherine D, Moore Steven A, Wallrath Lori L
Abstract excerpt
Mutations in the human LMNA gene, encoding A-type lamins, give rise to laminopathies, which include several types of muscular dystrophy. Here, heterozygous sequence variants in LMNA, which result in single amino-acid substitutions, were identified in patients exhibiting muscle weakness. To assess whether the substitutions altered lamin function, we performed in vivo analyses using a Drosophila model. Stocks were...
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