Results 71 to 80 of about 6,268 (192)

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

Brain Pathology, EarlyView.
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

Dissociation of Emerin from Barrier-to-autointegration Factor Is Regulated through Mitotic Phosphorylation of Emerin in a Xenopus Egg Cell-free System [PDF]

Journal of Biological Chemistry, 2005
Emerin is the gene product of STA whose mutations cause Emery-Dreifuss muscular dystrophy. It is an inner nuclear membrane protein and phosphorylated in a cell cycle-dependent manner. However, the means of phosphorylation of emerin are poorly understood.
Yasuhiro, Hirano, Masashi, Segawa, Fumiko S, Ouchi, Yoshio, Yamakawa, Kazuhiro, Furukawa, Kunio, Takeyasu, Tsuneyoshi, Horigome   +6 more
openaire   +2 more sources

Barrier-to-autointegration factor proteome reveals chromatin-regulatory partners. [PDF]

PLoS ONE, 2009
Nuclear lamin filaments and associated proteins form a nucleoskeletal ("lamina") network required for transcription, replication, chromatin organization and epigenetic regulation in metazoans.
Rocío Montes de Oca, Christopher J Shoemaker, Marjan Gucek, Robert N Cole, Katherine L Wilson   +4 more
doaj   +1 more source

Nuclear envelope laminopathies: evidence for developmentally inappropriate chromatin-nuclear envelope interactions [PDF]

, 2013
During terminal differentiation of cells, there is typically a transition of the nuclear envelope from the Lamin B protein to Lamin A/C proteins.
Eric Hoffman, Jelena Perovanovic, Jyoti Jaswal, Nikola Markovic   +3 more
core   +2 more sources

Regulation of pyruvate dehydrogenase complex: Dancing to different drums in cancer

International Journal of Cancer, Volume 158, Issue 6, Page 1464-1480, 15 March 2026.
Abstract Mechanisms governing the regulation of pyruvate dehydrogenase complex (PDC) are markedly modified in cancer cells compared to normal cells. PDC activity in normal cells is controlled by the reversible phosphorylation of three serine residues by dedicated kinases and phosphatases.
Mulchand S. Patel, Todd C. Rideout
wiley   +1 more source

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]

, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I, Ellinwood, N Matthew, Esko, Jeffrey D, Gordts, Philip L, Khalid, Omar, Schwartz, Philip H, Vera, Moin U, Wang, Raymond Y   +7 more
core   +5 more sources

Alterations to nuclear architecture and genome behavior in senescent cells. [PDF]

, 2007
The organization of the genome within interphase nuclei, and how it interacts with nuclear structures is important for the regulation of nuclear functions.
Abney J.R., Agrelo R., Barboro P., Becker P.B., Bemiller P.M., Benn P.A., Berezney R., Bowman P.D., Bridger J.M., Bridger J.M., C. S. CLEMENTS, Campisi J., Chaly N., Chang K.S., Cremer T., de Lange T., Dell'Orco R.T., Dijkwel P.A., Ferbeyre G., Filesi I., Fisher A.G., Fleischer S., Goldman R.D., Gruenbaum Y., Haque F., Hernandez-Verdun D., Holliday R., Hozak P., I. R. KILL, I. S. MEHTA, J. M. BRIDGER, Kill I.R., Kreth G., Lezhava T., Li Y., M. FIGGITT, Mallette F.A., Manuelidis L., Mazin A.L., Mitsui Y., Mukherjee A.B., Nickerson J., Okabe J., Padiath Q.S., Pawelec G., Petrova N.V., Schardin M., Schulz L., Smilenov L.B., Strouboulis J., Tanabe H., van Driel R., Wang G.S.   +52 more
core   +1 more source

Dynamic expression of lamin B1 during adult neurogenesis in the vertebrate brain

Developmental Dynamics, Volume 255, Issue 2, Page 187-208, February 2026.
Abstract Background In mammals, specific brain regions such as the dentate gyrus (DG) of the hippocampus and the subventricular zone (SVZ) of the lateral ventricles harbor adult neural stem/progenitor cells (ANSPCs) that give rise to new neurons and contribute to structural and functional brain plasticity.
Diana Zhilina, Lizbeth A. Bolaños Castro, Juan Sebastian Eguiguren, Sara Zocher, Anne Karasinsky, Dimitri Widmer, Alexandre Espinós, Victor Borrell, Michael Brand, Kyoko Miura, Oliver Zierau, Maximina H. Yun, Tomohisa Toda   +12 more
wiley   +1 more source

Multiple roles for emerin: Implications for Emery‐Dreifuss muscular dystrophy [PDF]

The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology, 2006
AbstractX‐linked Emery‐Dreifuss muscular dystrophy (X‐EDMD) is inherited through mutations in EMD, which encodes a nuclear membrane protein named emerin. Emerin is expressed in most cells, but EDMD strikes specific tissues. This review summarizes growing evidence that emerin has roles in both tissue‐specific gene regulation and the mechanical integrity
James M, Holaska, Katherine L, Wilson
openaire   +2 more sources

Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice.

PLoS ONE, 2019
Laminopathies are tissue-selective diseases that affect differently in organ systems. Mutations in nuclear envelopes, emerin (Emd) and lamin A/C (Lmna) genes, cause clinically indistinguishable myopathy called Emery-Dreifuss muscular dystrophy (EDMD) and
Eiji Wada, Megumi Kato, Kaori Yamashita, Hiroko Kokuba, Wen-Chen Liang, Gisèle Bonne, Yukiko K Hayashi   +6 more
doaj   +1 more source