Molecular pathology of laminopathies

JY Shin, HJ Worman - Annual Review of Pathology …, 2022 - annualreviews.org
The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear
pore complexes. Laminopathies are diseases caused by mutations in genes encoding …

Mechanosensing by the nucleus: From pathways to scaling relationships

S Cho, J Irianto, DE Discher - Journal of Cell Biology, 2017 - rupress.org
The nucleus is linked mechanically to the extracellular matrix via multiple polymers that
transmit forces to the nuclear envelope and into the nuclear interior. Here, we review some …

Lamins: nuclear intermediate filament proteins with fundamental functions in nuclear mechanics and genome regulation

Y Gruenbaum, R Foisner - Annual review of biochemistry, 2015 - annualreviews.org
Lamins are intermediate filament proteins that form a scaffold, termed nuclear lamina, at the
nuclear periphery. A small fraction of lamins also localize throughout the nucleoplasm …

A membrane-sensing mechanism links lipid metabolism to protein degradation at the nuclear envelope

S Lee, JW Carrasquillo Rodrı́guez, H Merta… - Journal of Cell …, 2023 - rupress.org
Lipid composition determines organelle identity; however, whether the lipid composition of
the inner nuclear membrane (INM) domain of the ER contributes to its identity is not known …

Lamins organize the global three-dimensional genome from the nuclear periphery

X Zheng, J Hu, S Yue, L Kristiani, M Kim, M Sauria… - Molecular Cell, 2018 - cell.com
Lamins are structural components of the nuclear lamina (NL) that regulate genome
organization and gene expression, but the mechanism remains unclear. Using Hi-C, we …

[HTML][HTML] Genome-nuclear lamina interactions regulate cardiac stem cell lineage restriction

A Poleshko, PP Shah, M Gupta, A Babu, MP Morley… - Cell, 2017 - cell.com
Progenitor cells differentiate into specialized cell types through coordinated expression of
lineage-specific genes and modification of complex chromatin configurations. We …

Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes

PP Shah, W Lv, JH Rhoades, A Poleshko, D Abbey… - Cell Stem Cell, 2021 - cell.com
Pathogenic mutations in LAMIN A/C (LMNA) cause abnormal nuclear structure and
laminopathies. These diseases have myriad tissue-specific phenotypes, including dilated …

Broken nuclei–lamins, nuclear mechanics, and disease

PM Davidson, J Lammerding - Trends in cell biology, 2014 - cell.com
Mutations in lamins, which are ubiquitous nuclear intermediate filaments, lead to a variety of
disorders including muscular dystrophy and dilated cardiomyopathy. Lamins provide …

A-type lamins bind both hetero-and euchromatin, the latter being regulated by lamina-associated polypeptide 2 alpha

K Gesson, P Rescheneder, MP Skoruppa… - Genome …, 2016 - genome.cshlp.org
Lamins are components of the peripheral nuclear lamina and interact with heterochromatic
genomic regions, termed lamina-associated domains (LADs). In contrast to lamin B1 being …

Networking in the nucleus: a spotlight on LEM-domain proteins

LJ Barton, AA Soshnev, PK Geyer - Current opinion in cell biology, 2015 - Elsevier
Proteins resident in the inner nuclear membrane and underlying nuclear lamina form a
network that regulates nuclear functions. This review highlights a prominent family of nuclear …