PMC Articles for MedGen (Select 1680067) - PMC

Select item 109581791.

Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A

Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González‐Álvarez, Stefan T. Arold, Wafaa Eyaid

Mol Genet Genomic Med. 2024 Mar; 12(3): e2274. Published online 2024 Feb 13. doi: 10.1002/mgg3.2274

PMCID:: PMC10958179

Abstract Article PDF–1.2M

Select item 109407702.

Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism

Michele Dei Cas, Linda Montavoci, Claudia Pasini, Anna Caretti, Sara Penati, Carla Martinelli, Umberto Gianelli, Sara Casati, Francesca Nardecchia, Annalaura Torella, Nicola Brunetti-Pierri, Marco Trinchera

J Lipid Res. 2024 Mar; 65(3): 100517. Published online 2024 Feb 10. doi: 10.1016/j.jlr.2024.100517

PMCID:: PMC10940770

Abstract Article PDF–3.6M

Select item 106962573.

The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy

Andreas J. Hülsmeier, Sandra P. Toelle, Peter Bellstedt, Christian Wentzel, Angela Bahr, Konstantinos Kolokotronis, Thorsten Hornemann

J Lipid Res. 2023 Dec; 64(12): 100464. Published online 2023 Oct 27. doi: 10.1016/j.jlr.2023.100464

PMCID:: PMC10696257

Abstract Article PDF–2.1M

Select item 103396084.

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature

Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard

Orphanet J Rare Dis. 2023; 18: 187. Published online 2023 Jul 13. doi: 10.1186/s13023-023-02802-6

PMCID:: PMC10339608

Abstract Article PDF–5.1M

Select item 101788455.

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

Laura Planas-Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Heron, Cristina Jou, Natalia Juliá-Palacios, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Carolina De La Torre, Antoinette Gelot, Maria Marsal, Pablo Loza-Alvarez, Àngels García-Cazorla, Ali Fatemi, Isidre Ferrer, Manel Portero-Otin, Estela Area-Gómez, Aurora Pujol

J Clin Invest. 2023 May 15; 133(10): e162957. Published online 2023 May 15. doi: 10.1172/JCI162957

PMCID:: PMC10178845

Abstract Article PDF–8.5M

Select item 87896906.

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

Ilaria Di Donato, Antonio Gallo, Ivana Ricca, Nicola Fini, Gabriella Silvestri, Fiorella Gurrieri, Mario Cirillo, Alfonso Cerase, Gemma Natale, Federica Matrone, Vittorio Riso, Mariarosa Anna Beatrice Melone, Alessandra Tessa, Giovanna De Michele, Antonio Federico, Alessandro Filla, Maria Teresa Dotti, Filippo Maria Santorelli

Neurol Sci. 2022; 43(2): 1071–1077. Published online 2021 Jul 23. doi: 10.1007/s10072-021-05462-1

PMCID:: PMC8789690

Abstract Article PDF–754K

Select item 73228637.

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset

Rosa Campopiano, Rosangela Ferese, Stefania Zampatti, Emiliano Giardina, Francesca Biagioni, Claudio Colonnese, Diego Centonze, Marianna Storto, Fabio Buttari, Edoardo Fraviga, Vania Broccoli, Mirco Fanelli, Francesco Fornai, Stefano Gambardella

BMC Neurol. 2020; 20: 258. Published online 2020 Jun 29. doi: 10.1186/s12883-020-01835-9

PMCID:: PMC7322863

Abstract Article PDF–1.5M

Select item 70646258.

POLR3A variants with striatal involvement and extrapyramidal movement disorder

Inga Harting, Murtadha Al-Saady, Ingeborg Krägeloh-Mann, Annette Bley, Maja Hempel, Tatjana Bierhals, Stephanie Karch, Ute Moog, Geneviève Bernard, Richard Huntsman, Rosalina M. L. van Spaendonk, Maaike Vreeburg, Agustí Rodríguez-Palmero, Aurora Pujol, Marjo S. van der Knaap, Petra J. W. Pouwels, Nicole I. Wolf

Neurogenetics. 2020; 21(2): 121–133. Published online 2020 Jan 15. doi: 10.1007/s10048-019-00602-4

PMCID:: PMC7064625

Abstract Article PDF–3.3M

Select item 65094929.

Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200

Karine Choquet, Diane Forget, Elisabeth Meloche, Marie-Josée Dicaire, Geneviève Bernard, Adeline Vanderver, Raphael Schiffmann, Marc R. Fabian, Martin Teichmann, Benoit Coulombe, Bernard Brais, Claudia L. Kleinman

J Biol Chem. 2019 May 3; 294(18): 7445–7459. Published online 2019 Mar 21. doi: 10.1074/jbc.RA118.006271

PMCID:: PMC6509492

Abstract Article PDF–2.5M

Select item 588364110.

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Vishal V. Tewari, Ritu Mehta, C. M. Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra

BMC Pediatr. 2018; 18: 126. Published online 2018 Apr 4. doi: 10.1186/s12887-018-1108-9

PMCID:: PMC5883641

Abstract Article PDF–1.4M

Select item 581557411.

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients

Haoran Ji, Dongxiao Li, Ye Wu, Quanli Zhang, Qiang Gu, Han Xie, Taoyun Ji, Huifang Wang, Lu Zhao, Haijuan Zhao, Yanling Yang, Hongchun Feng, Hui Xiong, Jinhua Ji, Zhixian Yang, Liping Kou, Ming Li, Xinhua Bao, Xingzhi Chang, Yuehua Zhang, Li Li, Huijuan Li, Zhengping Niu, Xiru Wu, Jiangxi Xiao, Yuwu Jiang, Jingmin Wang

PLoS One. 2018; 13(2): e0188869. Published online 2018 Feb 16. doi: 10.1371/journal.pone.0188869

PMCID:: PMC5815574

Abstract Article PDF–9.3M

Select item 570575912.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Noriko Miyake, Nicole I. Wolf, Ferdy K. Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J. Bent, Karen W. Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R. Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J. Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J. Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A. Neubauer, Cas Simons, Adeline Vanderver

Neurogenetics. 2017; 18(4): 185–194. Published online 2017 Aug 26. doi: 10.1007/s10048-017-0520-x

PMCID:: PMC5705759

Abstract Article PDF–4.2M

Select item 468961613.

The leukodystrophy protein FAM126A/Hyccin regulates PI4P synthesis at the plasma membrane

Jeremy M. Baskin, Xudong Wu, Romain Christiano, Michael S. Oh, Curtis M. Schauder, Elisabetta Gazzerro, Mirko Messa, Simona Baldassari, Stefania Assereto, Roberta Biancheri, Federico Zara, Carlo Minetti, Andrea Raimondi, Mikael Simons, Tobias C. Walther, Karin M. Reinisch, Pietro De Camilli

Nat Cell Biol. Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Nat Cell Biol. 2016 Jan; 18(1): 132–138. Published online 2015 Nov 16. doi: 10.1038/ncb3271

PMCID:: PMC4689616

Article PDF–1.7M

Select item 381210614.

Teaching NeuroImages: Hypomyelinating leukodystrophy with hypodontia due to POLR3B: Look into a leukodystrophy's mouth

Matthis Synofzik, Geneviève Bernard, Tobias Lindig, Janina Gburek-Augustat

Neurology. 2013 Nov 5; 81(19): e145. doi: 10.1212/01.wnl.0000435300.64776.7e

PMCID:: PMC3812106

Abstract Article PDF–196K

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