The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.
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A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly PropertiesA Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated CardiomyopathyDiseases of the Nucleoskeleton.Mechanisms and functions of nuclear envelope remodelling.The Roles of SUMO in Metabolic Regulation.Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.Itm2a silencing rescues lamin A mediated inhibition of 3T3-L1 adipocyte differentiation.LMNA p.R482W mutation related to FPLD2 alters SREBP1-A type lamin interactions in human fibroblasts and adipose stem cells.Lipodystrophic laminopathy: Lamin A mutation relaxes chromatin architecture to impair adipogenesis.A lipodystrophy-causing lamin A mutant alters conformation and epigenetic regulation of the anti-adipogenic MIR335 locus.Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.Laminopathy-causing lamin A mutations reconfigure lamina-associated domains and local spatial chromatin conformation.Structural analysis of the ternary complex between lamin A/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseasesNesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles
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P2860
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
The p.R482W substitution in A- ...... amilial partial lipodystrophy.
@en
type
label
The p.R482W substitution in A- ...... amilial partial lipodystrophy.
@en
prefLabel
The p.R482W substitution in A- ...... amilial partial lipodystrophy.
@en
P2093
P2860
P356
P1476
The p.R482W substitution in A- ...... amilial partial lipodystrophy.
@en
P2093
Anja R Oldenburg
Brigitte Buendia
Corinne Vigouroux
Eivind G Lund
Fabien Gerbal
Isabelle Duband-Goulet
Nathalie Vadrot
Nolwenn Briand
Patrick Vicart
P2860
P304
P356
10.1093/HMG/DDU728
P577
2014-12-18T00:00:00Z