Results 11 to 20 of about 1,866,196 (278)
A comparative study of Drosophila and human A-type lamins. [PDF]
PLoS ONE, 2009 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
Type A insulin resistance syndrome revealing a novel lamin A mutation. [PDF]
Diabetes, 2005 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]
Journal of Structural Biology, 2020 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
Case of mandibuloacral dysplasia with type B lipodystrophy
Indian Journal of Paediatric Dermatology, 2021 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
Nucleus, 2023 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]
Cell Cycle, 2009 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
Characterization of lamin mutation phenotypes in Drosophila and comparison to human laminopathies. [PDF]
PLoS ONE, 2007 Lamins are intermediate filament proteins that make up the nuclear lamina, a matrix underlying the nuclear membrane in all metazoan cells that is important for nuclear form and function.
Andrés Muñoz-Alarcón +6 more
doaj +1 more source
Nature Communications, 2020 Neural stem/progenitor cells (NSPCs) persist over the lifespan while encountering constant challenges from age or injury related brain environmental changes like elevated oxidative stress.
I. Hwang +8 more
semanticscholar +1 more source
Neuron type‐specific increase in lamin B1 contributes to nuclear dysfunction in Huntington’s disease
EMBO Molecular Medicine, 2020 Lamins are crucial proteins for nuclear functionality. Here, we provide new evidence showing that increased lamin B1 levels contribute to the pathophysiology of Huntington’s disease (HD), a CAG repeat‐associated neurodegenerative disorder.
R. Alcalá-Vida +14 more
semanticscholar +1 more source
Genome organization in cardiomyocytes expressing mutated A-type lamins
Frontiers in Cell and Developmental Biology, 2022 Cardiomyopathy is a myocardial disorder, in which the heart muscle is structurally and functionally abnormal, often leading to heart failure. Dilated cardiomyopathy is characterized by a compromised left ventricular function and contributes significantly to the heart failure epidemic, which represents a staggering clinical and public health problem ...
Kervella, Marie +3 more
openaire +4 more sources