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

Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease.

Autor: Raphael Trefzer, Orly Elpeleg, Tatyana Gabrusskaya, Polina Stepensky, Hagar Mor-Shaked, Robert Grosse, Dominique T Brandt

Publikováno v: PLoS ONE, Vol 16, Iss 5, p e0252428 (2021)

Diaphanous related formins are highly conserved proteins regulated by Rho-GTPases that act as actin nucleation and assembly factors. Here we report the functional characterization of a non-inherited heterozygous FMNL2 p.L136P mutation carried by a pa

Externí odkaz: https://doaj.org/article/4b2fe302d8c54a67a7cd3f72f09ac832

A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System

Autor: Shir Confino, Talya Dor, Adi Tovin, Yair Wexler, Zohar Ben-Moshe Livne, Michaela Kolker, Odelia Pisanty, Sohyun Kathy Park, Nathalie Geyer, Joel Reiter, Shimon Edvardson, Hagar Mor-Shaked, Orly Elpeleg, Daniela Vallone, Lior Appelbaum, Nicholas S. Foulkes, Yoav Gothilf

Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 4, p 2373 (2022)

The circadian clock, which drives a wide range of bodily rhythms in synchrony with the day–night cycle, is based on a molecular oscillator that ticks with a period of approximately 24 h. Timed proteasomal degradation of clock components is central

Externí odkaz: https://doaj.org/article/b1dc05bb03374457be9362a550e68a97

FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells

Autor: Michal Avitzour, Hagar Mor-Shaked, Shira Yanovsky-Dagan, Shira Aharoni, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Oshrat Schonberger, Ephrat Levy-Lahad, Silvina Epsztejn-Litman, Rachel Eiges

Publikováno v: Stem Cell Reports, Vol 3, Iss 5, Pp 699-706 (2014)

Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from epigenetic silencing of the X-linked FMR1 gene by a CGG expansion in its 5′-untranslated region. Taking advantage of a large set of FXS-affected hum

Externí odkaz: https://doaj.org/article/84318ba0cb7e4d1589dd771a8dc09b08

Expanding the phenotypic spectrum of COLEC10 ‐Related 3MC syndrome: A glimpse into COLEC10 ‐Related 3MC syndrome in the Ashkenazi Jewish population

Autor: Rachel Rabin, Yoel Hirsch, Wendy K. Chung, Josef Ekstein, Ephrat Levy‐Lahad, Shachar Zuckerman, Hagar Mor‐Shaked, Vardiella Meiner, Kevin T. Booth, John Pappas

Publikováno v: American Journal of Medical Genetics Part A. 188:3110-3117

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b950259f6cf7a238a340576b8cee7aca
https://doi.org/10.1002/ajmg.a.62943