Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery-Dreifuss muscular dystrophy and cardiomyopathy...

Full description

Bibliographic Details
Main Authors: Tejas Dharmaraj, Youchen Guan, Julie Liu, Catherine Badens, Benedicte Gaborit, Katherine L. Wilson
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
barrier to autointegration factor 1
emerin
laminopathy
LDL cholesterol
triglycerides
progeria
Online Access:https://www.frontiersin.org/article/10.3389/fcell.2019.00048/full

Internet

https://www.frontiersin.org/article/10.3389/fcell.2019.00048/full

Similar Items