Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Luka N. Zirbel"'
LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle
Autor:
Lori L. Wallrath, Kaitlin M. Flannery, Katherine D. Mathews, Luka N. Zirbel, Peter L. Nagy, Steven A. Moore, George Dialynas
Publikováno v:
Human Molecular Genetics
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e33789b6458e3fd65621326196e2b85
https://doi.org/10.1093/hmg/ddr592
https://doi.org/10.1093/hmg/ddr592
Autor:
Jason P. Price, Adrian H. Elcock, Luka N. Zirbel, Michael A. Shogren-Knaak, Andrew S. Thomas, Lori L. Wallrath, Melissa J. Blacketer, Abdelhamid M. Azzaz, Diane E. Cryderman, Michael W. Vitalini, Christopher L. Woodcock
Publikováno v:
The Journal of biological chemistry. 289(10)
HP1(Hsα)-containing heterochromatin is located near centric regions of chromosomes and regulates DNA-mediated processes such as DNA repair and transcription. The higher-order structure of heterochromatin contributes to this regulation, yet the struc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::518ea2ebcbcef267417964da4d9deebb
https://pubmed.ncbi.nlm.nih.gov/24415761
https://pubmed.ncbi.nlm.nih.gov/24415761