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 …

When lamins go bad: nuclear structure and disease

KH Schreiber, BK Kennedy - Cell, 2013 - cell.com
Mutations in nuclear lamins or other proteins of the nuclear envelope are the root cause of a
group of phenotypically diverse genetic disorders known as laminopathies, which have …

Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin

T Dechat, K Pfleghaar, K Sengupta, T Shimi… - Genes & …, 2008 - genesdev.cshlp.org
Over the past few years it has become evident that the intermediate filament proteins, the
types A and B nuclear lamins, not only provide a structural framework for the nucleus, but …

Nuclear lamins: laminopathies and their role in premature ageing

JLV Broers, FCS Ramaekers, G Bonne… - Physiological …, 2006 - journals.physiology.org
It has been demonstrated that nuclear lamins are important proteins in maintaining cellular
as well as nuclear integrity, and in maintaining chromatin organization in the nucleus …

[图书][B] Greenfield's Neuropathology-Two Volume Set

S Love, A Perry, J Ironside, H Budka - 2018 - books.google.com
Greenfield's Neuropathology, the world's leading neuropathology reference, provides a
comprehensive account of the pathological findings in neurological disease, their biological …

De novo LMNA mutations cause a new form of congenital muscular dystrophy

S Quijano‐Roy, B Mbieleu… - Annals of Neurology …, 2008 - Wiley Online Library
Objective To describe a new entity of congenital muscular dystrophies caused by de novo
LMNA mutations. Methods Fifteen patients presenting with a myopathy of onset in the first …

Laminopathies and the long strange trip from basic cell biology to therapy

HJ Worman, LG Fong, A Muchir… - The Journal of clinical …, 2009 - Am Soc Clin Investig
The main function of the nuclear lamina, an intermediate filament meshwork lying primarily
beneath the inner nuclear membrane, is to provide structural scaffolding for the cell nucleus …

The laminopathies: a clinical review

J Rankin, S Ellard - Clinical genetics, 2006 - Wiley Online Library
The laminopathies are a diverse group of conditions caused by mutations in the LMNA gene
(MIM* 150330). LMNA encodes the nuclear envelope proteins lamin A and lamin C by …

Epigenetics in LMNA-Related Cardiomyopathy

Y Wang, G Dobreva - Cells, 2023 - mdpi.com
Mutations in the gene for lamin A/C (LMNA) cause a diverse range of diseases known as
laminopathies. LMNA-related cardiomyopathy is a common inherited heart disease and is …

Functional architecture of the cell's nucleus in development, aging, and disease

B Burke, CL Stewart - Current topics in developmental biology, 2014 - Elsevier
In eukaryotes, the function of the cell's nucleus has primarily been considered to be the
repository for the organism's genome. However, this rather simplistic view is undergoing a …