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Mutation of the LMNA gene, encoding nuclear lamin A and lamin C (hereafter lamin A/C), is a common cause of familial dilated cardiomyopathy (DCM). Among Finnish DCM patients, the founder mutation c.427T>C (p.S143P) is the most frequently reported genetic variant. Here, we show that p.S143P lamin A/C...
ORGANISM(S): Homo sapiens 
A systems understanding of nuclear organization and events is critical for determining how cells divide, differentiate and respond to stimuli and for identifying the causes of diseases. Chromatin remodeling complexes such as SWI/SNF have been implicated in a wide variety of cellular processes includ...
ORGANISM(S): Homo sapiens 
Lamins are intermediate filament proteins responsible for nuclear mechanical integrity. Though linked to multiple heritable diseases, lamin structure and that of other intermediate filaments remains elusive. We employed cross-linking mass spectrometry to gain structural insights into lamin A dimer a...
ORGANISM(S): Homo sapiens (Human) Rattus norvegicus (Rat) 
2019-07-12 | PXD008337 | Pride
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease that is frequently caused by a de novo point mutation at position 1824 in LMNA. This mutation activates a cryptic splice donor site in exon 11, and leads to an in-frame deletion within the prelamin A mRNA and the production of ...
ORGANISM(S): Homo sapiens 
Senescence is a stress responsive form of stable cell cycle exit. Senescent cells have a distinct gene expression profile, which is often accompanied by the spatial redistribution of heterochromatin into senescence-associated heterochromatic foci (SAHFs). Studying a key component of the nuclear lami...
ORGANISM(S): Homo sapiens 
Proteomics for sorted low vs. high 20% of lamin A/C-expressing primary, human, adipose-derived stem cells compared to an unsorted population
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-05-28 | MSV000087538 | MassIVE
Lamin A/C are nuclear intermediate filament proteins that form a proteinaceous meshwork called lamina beneath the inner nuclear membrane. Mutations in the LMNA gene encoding lamin A/C cause a heterogenous group of inherited degenerative diseases known as laminopathies. Previous studies have revealed...
ORGANISM(S): Homo sapiens (Human) 
2022-09-07 | PXD033937 | Pride
The mouse neuroblastoma N18TG2 clone is unable to differentiate and defective for the enzymes of the biosynthesis of neurotransmitters. The forced expression of choline acetyltransferase (ChAT) in these cells results in the synthesis and release of acetylcholine (Ach) and hence in the expression of ...
ORGANISM(S): Mus musculus 
Mechanical control of MSC adipogenesis does not require Lamin A/C
Lamin A/C promotes DNA base excision repair (mouse arrays)
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