Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Autor: Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH s

Externí odkaz: https://doaj.org/article/669f0574667343e2aba272d086c020c6

Cre/lox regulated conditional rescue and inactivation with zebrafish UFlip alleles generated by CRISPR-Cas9 targeted integration

Autor: Fang Liu, Sekhar Kambakam, Maira P Almeida, Zhitao Ming, Jordan M Welker, Wesley A Wierson, Laura E Schultz-Rogers, Stephen C Ekker, Karl J Clark, Jeffrey J Essner, Maura McGrail

Publikováno v: eLife, Vol 11 (2022)

The ability to regulate gene activity spatially and temporally is essential to investigate cell-type-specific gene function during development and in postembryonic processes and disease models. The Cre/lox system has been widely used for performing c

Externí odkaz: https://doaj.org/article/8f02d9ae8d7447cabd05434a5fed06f6

Rbbp4 loss disrupts neural progenitor cell cycle regulation independent of Rb and leads to Tp53 acetylation and apoptosis

Autor: Laura E. Schultz‐Rogers, Michelle L. Thayer, Sekhar Kambakam, Wesley A. Wierson, Jordan A. Helmer, Mark D. Wishman, Kristen A. Wall, Jessica L. Greig, Jaimie L. Forsman, Kavya Puchhalapalli, Siddharth Nair, Trevor J. Weiss, Jon M. Luiken, Patrick R. Blackburn, Stephen C. Ekker, Marcel Kool, Maura McGrail

Publikováno v: Developmental Dynamics. 251:1267-1290

Retinoblastoma binding protein 4 (Rbbp4) is a component of transcription regulatory complexes that control cell cycle gene expression. Previous work indicated that Rbbp4 cooperates with the Rb tumor suppressor to block cell cycle entry. Here, we use

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::914497a99fae0f1b87a9d128367c08bc
https://doi.org/10.1002/dvdy.467

Cre/lox regulated conditional rescue and inactivation with zebrafish UFlip alleles generated by CRISPR-Cas9 targeted integration

Autor: Zhitao Ming, Maira P Almeida, Sekhar Kambakam, Fang Liu, Jordan M Welker, Wesley A Wierson, Laura E Schultz-Rogers, Stephen C Ekker, Karl J Clark, Jeffrey J Essner, Maura McGrail

Publikováno v: eLife. 11

The ability to regulate gene activity spatially and temporally is essential to investigate cell-type-specific gene function during development and in postembryonic processes and disease models. The Cre/lox system has been widely used for performing c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8fec5034abc7a544fa8ab1457cd08ea9
https://doi.org/10.7554/elife.71478

Cre

Autor: Fang, Liu, Sekhar, Kambakam, Maira P, Almeida, Zhitao, Ming, Jordan M, Welker, Wesley A, Wierson, Laura E, Schultz-Rogers, Stephen C, Ekker, Karl J, Clark, Jeffrey J, Essner, Maura, McGrail

Publikováno v: eLife. 11

The ability to regulate gene activity spatially and temporally is essential to investigate cell-type-specific gene function during development and in postembryonic processes and disease models. The Cre/

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::30cfc42ef7b7328a240bf72016742965
https://pubmed.ncbi.nlm.nih.gov/35713402