Results 11 to 20 of about 1,727,162 (300)
A comparative study of Drosophila and human A-type lamins. [PDF]
Nuclear intermediate filament proteins, called lamins, form a meshwork that lines the inner surface of the nuclear envelope. Lamins contain three domains: an N-terminal head, a central rod and a C-terminal tail domain possessing an Ig-fold structural ...
Sandra R Schulze +10 more
doaj +4 more sources
A- and B-type lamins are type V intermediate filament proteins. Mutations in the genes encoding these lamins cause rare diseases, collectively called laminopathies.
Merel Stiekema +5 more
semanticscholar +3 more sources
Cellular architectural proteins often participate in organ development and maintenance. Although functional decay of some of these proteins during aging is known, the cell‐type‐specific developmental role and the cause and consequence of their subsequent
S. Yue, Xiaobin Zheng, Yixian Zheng
semanticscholar +3 more sources
Type A insulin resistance syndrome revealing a novel lamin A mutation. [PDF]
Particular forms of polycystic ovary syndrome with severe hyperandrogenism, acanthosis nigricans, and marked insulin resistance, defining the type A insulin resistance syndrome, are due to insulin receptor gene mutations. However, the majority of affected individuals do not have such mutation, arguing for the genetic heterogeneity of this syndrome. The
Jacques Young +10 more
semanticscholar +3 more sources
Lateral A11 type tetramerization in lamins [PDF]
The assembly of intermediate filaments (IFs) including nuclear lamins is driven by specific interactions of the elementary coiled-coil dimers in both lateral and longitudinal direction. The assembly mode A11 is dependent on lateral tetramerization of the second coiled-coil segment (coil1b) in antiparallel fashion.
Lilina, Anastasia V. +3 more
openaire +3 more sources
LAP2alpha maintains a mobile and low assembly state of A-type lamins in the nuclear interior
Lamins form stable filaments at the nuclear periphery in metazoans. Unlike B-type lamins, lamins A and C localize also in the nuclear interior, where they interact with lamin-associated polypeptide 2 alpha (LAP2α).
Nana Naetar +8 more
doaj +1 more source
Purpose Familial partial lipodystrophy type 2 (FPLD2) patients generally develop a wide variety of severe metabolic complications. However, they are not usually affected by primary cardiomyopathy and conduction system disturbances, although a few cases ...
C. Cecchetti +6 more
semanticscholar +1 more source
Case of mandibuloacral dysplasia with type B lipodystrophy
Introduction: Mandibuloacral dysplasia with type B lipodystrophy (MADB) caused by compound heterozygous mutation in the ZMPSTE24 gene is characterized by generalized lipodystrophy and short stature.
Sanober Burzin Daruwalla +3 more
doaj +1 more source
Chromatin regions that interact with the nuclear lamina are often heterochromatic, repressed in gene expression, and in the spatial B compartment. However, exceptions to this trend allow us to examine the relative impact of lamin association and spatial ...
Priyojit Das +2 more
doaj +1 more source
Loss of A-type lamins and genomic instability [PDF]
Research performed in the last few years has revealed important roles for the spatial and temporal organization of the genome on genome function and integrity. A challenge in the field is to determine the molecular mechanisms involved in the organization of genome function.
Gonzalez-Suarez, Ignacio +2 more
openaire +3 more sources

