Results 41 to 50 of about 3,144 (163)

A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy

Cells, 2023
Barrier-to-autointegration factor (BAF) is an essential component of the nuclear lamina. Encoded by BANF1, this DNA binding protein contributes to the regulation of gene expression, cell cycle progression, and nuclear integrity.
Agathe Marcelot, Felipe Rodriguez-Tirado, Philippe Cuniasse, Mei-ling Joiner, Simona Miron, Alexey A. Soshnev, Mimi Fang, Miles A. Pufall, Katherine D. Mathews, Steven A. Moore, Sophie Zinn-Justin, Pamela K. Geyer   +11 more
doaj   +1 more source

The role of inner nuclear membrane protein emerin in myogenesis. [PDF]

FASEB J
Abstract Emerin, a ubiquitously expressed inner nuclear membrane protein, plays a central role in maintaining nuclear structure and genomic organization, and in regulating gene expression and cellular signaling pathways. These functions are critical for proper myogenic differentiation and are closely linked to the
Marano N, Holaska JM.
europepmc   +3 more sources

Emerin self‐assembly mechanism: role of the LEM domain [PDF]

The FEBS Journal, 2017
At the nuclear envelope, the inner nuclear membrane protein emerin contributes to the interface between the nucleoskeleton and the chromatin. Emerin is an essential actor of the nuclear response to a mechanical signal. Genetic defects in emerin cause Emery–Dreifuss muscular dystrophy. It was proposed that emerin oligomerization regulates nucleoskeleton
Samson, Camille, Celli, Florian, Hendriks, Kitty, Zinke, Maximilian, Essawy, Nada, Herrada, Isaline, Arteni, Ana‐andreea, Theillet, Francois-Xavier, Alpha‐bazin, Béatrice, Armengaud, J., Coirault, Catherine, Lange, Adam, Zinn‐Justin, Sophie   +12 more
openaire   +3 more sources

Astrocyte Mechanobiology: Linking Biomechanical Forces to Biochemical Signaling in the Central Nervous System

Glia, Volume 74, Issue 7, July 2026.
Astrocytes are key sensors and transducers of biomechanical stimuli within the central nervous system. Astrocyte development is highly dependent on mechanical stimuli such as surrounding tissue stiffness and biomechanical strain. Mechanosensory pathways including integrins, connexins and pannexins, and mechanosensitive channels regulate astrocyte ...
Ana N. Strat, Alima Ahmed, Mariano Viapiano, Preethi S. Ganapathy   +3 more
wiley   +1 more source

Diffusion-driven self-assembly of emerin nanodomains at the nuclear envelope

Physical Review Research
Emerin, a nuclear membrane protein with important biological roles in mechanotransduction and nuclear shape adaptation, self-assembles into nanometer-size domains at the inner nuclear membrane.
Carlos D. Alas, Liying Wu, Fabien Pinaud, Christoph A. Haselwandter   +3 more
doaj   +1 more source

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

Frontiers in Cell and Developmental Biology, 2019
Emerin (EMD) and barrier to autointegration factor 1 (BANF1) each bind A-type lamins (LMNA) as fundamental components of nuclear lamina structure. Mutations in LMNA, EMD and BANF1 are genetically linked to many tissue-specific disorders including Emery ...
Tejas Dharmaraj, Youchen Guan, Julie Liu, Catherine Badens, Benedicte Gaborit, Katherine L. Wilson   +5 more
doaj   +1 more source

Single Cell Mechanics in Disease Progression

Small Science, Volume 6, Issue 7, July 2026.
Cells transmit distinct mechanical forces through ECM adhesion and cell–cell junctions and actomyosin‐generated traction forces are transmitted to the substrate through integrin‐based focal adhesions. Mechanical signals are further transmitted to the nucleus via the LINC complex, connecting the cytoskeleton to the nuclear lamina. These forces integrate
Sabin Kim, Jongmin Lee, Kyungtae Lim, Dong‐Hwee Kim   +3 more
wiley   +1 more source

Essential Role for Telomeric Repeat‐Binding Factor 2 in Cardiac Development and Function

FASEB BioAdvances, Volume 8, Issue 7, July 2026.
This schematic illustrates a paradigm shift in telomere biology, demonstrating that Trf2 is a mandatory orchestrator of heart development and function through pathways distinct from its canonical telomere protective role. ABSTRACT Telomere repeat‐binding factor 2 (Trf2) is essential for protecting our telomeres.
Ali Hakim Shoushtari, Aysenure Danis, Michael Wayne Stoner, Jeffrey Baust, Andrea Sebastiani, Paramesha Bugga, Janet R. Manning, Bellina A. S. Mushala, Nisha Bhattarai, Imad Al Ghouleh, Iain Scott, Maryam Sharifi‐Sanjani   +11 more
wiley   +1 more source

Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology

European Journal of Histochemistry, 2009
The present review summarizes recent cytochemical findings on the functional organization of the nuclear domains, with a particular emphasis on the relation between nuclear envelope- associated proteins and chromatin.
NM Maraldi, G Lattanzi, P Sabatelli, A Ognibene, M Columbaro, C Capanni, C Rutigliano, E Mattioli, S Squarzoni   +8 more
doaj   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, Volume 36, Issue 4, July 2026.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source