نتایج جستجو برای: lamins
تعداد نتایج: 1470 فیلتر نتایج به سال:
The familial partial lipodystrophy of the Dunnigan type (FPLD) is a rare autosomal dominant disease characterized by a post-pubertal regression of the subcutaneous fat from limbs and trunk contrasting with its accumulation in face and neck. This lipodystrophy is associated with insulin resistance and hypertriglyceridemia, which could be secondary to adipose tissue involution. Missense heterozyg...
The nuclear envelope (NE) creates a compartment within the interphase cell in which DNA replication, transcription and RNA processing can be regulated independently of translation. Components of the NE include the inner nuclear membrane (INM) and outer nuclear membrane (ONM), nuclear pore complexes (NPCs) and the nuclear lamina. The lamina is a fibrous nucleoskeletal structure associated with t...
The lamins are intermediate filament proteins that form a fibrous layer at the periphery of the nucleus. Experiments in cell-free systems have suggested that mammalian lamins A and C mediate an interaction between chromatin and the inner nuclear membrane that is essential for the reformation of the nucleus after mitosis. Other investigations, however, have suggested that lamins A and C are abse...
Lamins are major components of the nuclear lamina, a network of proteins that supports the nuclear envelope in metazoan cells. Over the past decade, biochemical studies have provided support for the view that lamins are not passive bystanders providing mechanical stability to the nucleus but play an active role in the organization of the genome and the function of fundamental nuclear processes....
A-type lamins provide a scaffold for tethering chromatin and protein complexes regulating nuclear structure and function. Interest in lamins increased after mutations in the LMNA gene were found to be associated with a variety of human disorders termed laminopathies. These include muscular dystrophy, cardiomyopathy, lipodystrophy, peripheral neuropathy and premature aging syndromes such as prog...
Lamins are major components of the nuclear lamina, a network of proteins that supports the nuclear envelope in metazoan cells. Over the past decade, biochemical studies have provided support for the view that lamins are not passive bystanders providing mechanical stability to the nucleus but play an active role in the organization of the genome and the function of fundamental nuclear processes....
Nuclear lamins are involved in many cellular functions due to their ability to bind numerous partners including chromatin and transcription factors, and affect their properties. Dunnigan type familial partial lipodystrophy (FPLD2; OMIM#151660) is caused in most cases by the A-type lamin R482W mutation. We report here that the R482W mutation affects the regulatory activity of sterol response ele...
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