TMEM120A and B: Nuclear Envelope Transmembrane Proteins Important for Adipocyte Differentiation.

Autor: Dzmitry G Batrakou, Jose I de Las Heras, Rafal Czapiewski, Rabah Mouras, Eric C Schirmer

Publikováno v: PLoS ONE, Vol 10, Iss 5, p e0127712 (2015)

Recent work indicates that the nuclear envelope is a major signaling node for the cell that can influence tissue differentiation processes. Here we present two nuclear envelope trans-membrane proteins TMEM120A and TMEM120B that are paralogs encoded b

Externí odkaz: https://doaj.org/article/e2e861eb9925477c807370bf129105d0

Genomic loci mispositioning in Tmem120a knockout mice yields latent lipodystrophy

Autor: Rafal Czapiewski, Dzmitry G. Batrakou, Jose I. de las Heras, Roderick N. Carter, Aishwarya Sivakumar, Magdalena Sliwinska, Charles R. Dixon, Shaun Webb, Giovanna Lattanzi, Nicholas M. Morton, Eric C. Schirmer

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

Little is known how spatial genome organization is directed in fat; however, key proadipogenic genes reposition from the nuclear envelope (NE) to the interior during adipogenesis. Here the authors show that deletion of NE protein Tmem120a in adipocyt

Externí odkaz: https://doaj.org/article/5efba97324ba4758897fa78e06687621

Repo-Man/PP1 regulates heterochromatin formation in interphase

Autor: Inês J. de Castro, James Budzak, Maria L. Di Giacinto, Lorena Ligammari, Ezgi Gokhan, Christos Spanos, Daniela Moralli, Christine Richardson, Jose I. de las Heras, Silvia Salatino, Eric C. Schirmer, Katharine S. Ullman, Wendy A. Bickmore, Catherine Green, Juri Rappsilber, Sarah Lamble, Martin W. Goldberg, Veronica Vinciotti, Paola Vagnarelli

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-16 (2017)

Repo-Man is a chromosome-binding subunit of protein phosphatase 1 to regulate mitosis. Here, de Castro and colleagues show that Repo-Man also regulates heterochromatin during interphase, and regulates gene repression and chromatin organization.

Externí odkaz: https://doaj.org/article/614dab2625cb407a8fec9084fc97d570

STING Nuclear Partners Contribute to Innate Immune Signalling Responses

Autor: Greg J. Towers, Eleanor Gaunt, Natalia Saiz-Ros, A. Christine Richardson, David A. Kelly, Jose I. de las Heras, Eric C. Schirmer, Charles R. Dixon, Poonam Malik, Weidong Yang, Juri Rappsilber, Mark Tingey, Martin W. Goldberg, Flavia de Lima Alves, Paul Digard

Publikováno v: Dixon, C, Malik, P, de las Heras, J, Saiz ros, N, Alves, F L, Tingey, M, Gaunt, E, Richardson, A C, Kelly, D, Goldberg, M, Towers, G J, Yang, W, Rappsilber, J, Digard, P & Schirmer, E C 2021, ' STING Nuclear Partners Contribute to Innate Immune Signalling Responses ', iScience . https://doi.org/10.1016/j.isci.2021.103055
iScience, Vol 24, Iss 9, Pp 103055-(2021)
iScience
iScience, 2021, Vol.24(9) [Peer Reviewed Journal]

Summary STimulator of INterferon Genes (STING) is an adaptor for cytoplasmic DNA sensing by cGAMP/cGAS that helps trigger innate immune responses (IIRs). Although STING is mostly localized in the ER, we find a separate inner nuclear membrane pool of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5b5722e4a4f0e8e3aae8d553bcc61b4
https://www.pure.ed.ac.uk/ws/files/226478012/1_s2.0_S2589004221010233_main.pdf

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

Autor: Eric C. Schirmer, E. Harris, Ulrike Schara, Manfred Wehnert, Benedikt Schoser, Peter Meinke, Alastair R.W. Kerr, Francesco Muntoni, Heike Kölbel, Volker Straub, Rafal Czapiewski, Charles R. Dixon, Jose I. de las Heras

Publikováno v: EBioMedicine, Vol 51, Iss, Pp-(2020)
EBioMedicine

Background: As genome-wide approaches prove difficult with genetically heterogeneous orphan diseases, we developed a new approach to identify candidate genes. We applied this to Emery-Dreifuss muscular dystrophy (EDMD), characterised by early onset c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ef5dfbe22018adf60bcf53a27619802
http://www.sciencedirect.com/science/article/pii/S2352396419307972