Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Mahmoud A. Pouladi"'
Autor:
Luisana Duque Villegas, Abinaya Chandrasekaran, Sofie Amalie Flintholm Andersen, Anne Nørremølle, Benjamin Schmid, Mahmoud A. Pouladi, Kristine Freude
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103408- (2024)
Neurogenin 2 (NGN2), a neuronal transcription factor, can expedite differentiation of stem cells into mature glutamatergic neurons. We have utilized an allelic series of previously published and characterized isogenic Huntington's disease (IsoHD) hum
Externí odkaz:
https://doaj.org/article/f927c3193d514f628e08a8ba49a423df
Autor:
Xuanzhuo Liu, Fang Wang, Xinman Fan, Mingyi Chen, Xiaoxin Xu, Qiuhong Xu, Huili Zhu, Anding Xu, Mahmoud A. Pouladi, Xiaohong Xu
Publikováno v:
Cell Death and Disease, Vol 15, Iss 2, Pp 1-12 (2024)
Abstract Huntington disease (HD) is a neurodegenerative disease caused by the abnormal expansion of a polyglutamine tract resulting from a mutation in the HTT gene. Oxidative stress has been identified as a significant contributing factor to the deve
Externí odkaz:
https://doaj.org/article/85901010d0b741f9bc5351695ca8979f
Autor:
Sophia C. Gjervan, Oguz K. Ozgoren, Alexander Gow, Sylvia Stockler-Ipsiroglu, Mahmoud A. Pouladi
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2024)
Claudin-11 plays a critical role in multiple physiological processes, including myelination, auditory function, and spermatogenesis. Recently, stop-loss mutations in CLDN11 have been identified as a novel cause of hypomyelinating leukodystrophy (HLD2
Externí odkaz:
https://doaj.org/article/b88163233b3043c19cee6955a98afe74
Autor:
Oguz K. Ozgoren, Glen Lester Sequiera, Costanza Ferrari Bardile, Sophia C. Gjervan, Areesha Salman, Anna Lehman, Stuart E. Turvey, Colin J.D. Ross, Sylvia Stockler, Mahmoud A. Pouladi
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103174- (2023)
Hypomyelinating Leukodystrophy 22 (HLD22) is caused by a stoploss mutation in CLDN11. To study the molecular mechanisms underlying HLD22, human induced pluripotent stem cells (hiPSCs) were generated from patient fibroblasts carrying the stop-loss mut
Externí odkaz:
https://doaj.org/article/da28363744664b88907f8eb810119337
Autor:
Vincent Tano, Kagistia Hana Utami, Nur Amirah Binte Mohammad Yusof, Jocelyn Bégin, Willy Wei Li Tan, Mahmoud A. Pouladi, Sarah R. Langley
Publikováno v:
EBioMedicine, Vol 94, Iss , Pp 104720- (2023)
Summary: Background: In Huntington's disease (HD), a CAG repeat expansion mutation in the Huntingtin (HTT) gene drives a gain-of-function toxicity that disrupts mRNA processing. Although dysregulation of gene splicing has been shown in human HD post-
Externí odkaz:
https://doaj.org/article/0f23e04ff244494bb2dc3c59e327de67
Autor:
Matan Sorek, Walaa Oweis, Malka Nissim-Rafinia, Moria Maman, Shahar Simon, Cynthia C. Hession, Xian Adiconis, Sean K. Simmons, Neville E. Sanjana, Xi Shi, Congyi Lu, Jen Q. Pan, Xiaohong Xu, Mahmoud A. Pouladi, Lisa M. Ellerby, Feng Zhang, Joshua Z. Levin, Eran Meshorer
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-25 (2021)
Abstract Background Many neurodegenerative diseases develop only later in life, when cells in the nervous system lose their structure or function. In many forms of neurodegenerative diseases, this late-onset phenomenon remains largely unexplained. Re
Externí odkaz:
https://doaj.org/article/ef6b9f08c22b4b3bb7ae4a84695c552b
Autor:
Kagistia Hana Utami, Nur Amirah Binte Mohammad Yusof, Jing Eugene Kwa, Ulla-Kaisa Peteri, Maija L. Castrén, Mahmoud A. Pouladi
Publikováno v:
Molecular Autism, Vol 11, Iss 1, Pp 1-11 (2020)
Abstract FXS is the most common genetic cause of intellectual (ID) and autism spectrum disorders (ASD). FXS is caused by loss of FMRP, an RNA-binding protein involved in the translational regulation of a large number of neuronal mRNAs. Absence of FMR
Externí odkaz:
https://doaj.org/article/59f859f2223448d5a9b6cbab3356d1c2
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
Autor:
Fanny L. Lemarié, Nicholas S. Caron, Shaun S. Sanders, Mandi E. Schmidt, Yen T.N. Nguyen, Seunghyun Ko, Xiaohong Xu, Mahmoud A. Pouladi, Dale D.O. Martin, Michael R. Hayden
Publikováno v:
Neurobiology of Disease, Vol 158, Iss , Pp 105479- (2021)
Huntington disease (HD) is a neurodegenerative disorder caused by a CAG expansion in the HTT gene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein. HTT is subject to multiple post-translational modifications (PTMs) that
Externí odkaz:
https://doaj.org/article/2444a423afaf47e1a97c55c90c9868f3
Autor:
Libo Yu-Taeger, Arianna Novati, Jonasz Jeremiasz Weber, Elisabeth Singer-Mikosch, Ann-Sophie Pabst, Fubo Cheng, Carsten Saft, Jennifer Koenig, Gisa Ellrichmann, Taneli Heikkinen, Mahmoud A. Pouladi, Olaf Riess, Huu Phuc Nguyen
Publikováno v:
Cells, Vol 11, Iss 23, p 3779 (2022)
Body weight (BW) loss and reduced body mass index (BMI) are the most common peripheral alterations in Huntington disease (HD) and have been found in HD mutation carriers and HD animal models before the manifestation of neurological symptoms. This sug
Externí odkaz:
https://doaj.org/article/182d9543377f43cc8144fbbfc702c74e