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Select item 97871621.

Hypomyelinating Leukodystrophy 10 (HLD10)-Associated Mutations of PYCR2 Form Large Size Mitochondria, Inhibiting Oligodendroglial Cell Morphological Differentiation

Tomohiro Torii, Remina Shirai, Risa Kiminami, Satoshi Nishino, Takanari Sato, Sui Sawaguchi, Nana Fukushima, Yoichi Seki, Yuki Miyamoto, Junji Yamauchi

Neurol Int. 2022 Dec; 14(4): 1062–1080. Published online 2022 Dec 16. doi: 10.3390/neurolint14040085

PMCID:: PMC9787162

Abstract Article PDF–8.2M

Select item 104723882.

Lin Wan, Dan Yu, Zhichao Li, Xinting Liu, Yan Liang, Huimin Yan, Gang Zhu, Bo Zhang, Guang Yang

Epilepsia Open. 2023 Sep; 8(3): 867–876. Published online 2023 May 5. doi: 10.1002/epi4.12751

PMCID:: PMC10472388

Abstract Article PDF–4.2M

Select item 87896903.

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 85573324.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Laura Planas-Serra, Irene de la Calle, Miquel Raspall-Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O’Leary, Emily O’Heir, Estibaliz Barredo, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruiz, Agatha Schlüter, Isabelle Rouvet, Julia Sala-Coromina, Chiara Fossati, Maria Iascone, Francesco Canonico, Anna Marcé-Grau, Precilla de Souza, David R Adams, Carlos Casasnovas, Heidi L Rehm, Heather C Mefford, Luis González Gutierrez-Solana, Alfredo Brusco, Michel Koenig, Alfons Macaya, Aurora Pujol

Brain. 2021 Sep; 144(9): 2659–2669. Published online 2021 Aug 20. doi: 10.1093/brain/awab124

PMCID:: PMC8557332

Abstract Article PDF–1.4M

Select item 81283795.

Genetic analysis of Pycr1 and Pycr2 in mice

Morgane G Stum, Abigail L D Tadenev, Kevin L Seburn, Kathy E Miers, Pak P Poon, Christopher R McMaster, Carolyn Robinson, Coleen Kane, Kathleen A Silva, Paul F Cliften, John P Sundberg, Laura G Reinholdt, Simon W M John, Robert W Burgess

Genetics. 2021 May; 218(1): iyab048. Published online 2021 Mar 18. doi: 10.1093/genetics/iyab048

PMCID:: PMC8128379

Abstract Article PDF–947K

Select item 81206376.

Disease Variants of Human Δ¹-Pyrroline-5-Carboxylate Reductase 2 (PYCR2)

Sagar M. Patel, Javier Seravalli, Xinwen Liang, John J. Tanner, Donald F. Becker

Arch Biochem Biophys. Author manuscript; available in PMC 2022 May 30.

Published in final edited form as: Arch Biochem Biophys. 2021 May 30; 703: 108852. Published online 2021 Mar 24. doi: 10.1016/j.abb.2021.108852

PMCID:: PMC8120637

Abstract Article PDF–1.9M

Select item 64023167.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schüle

Brain. 2017 Jun; 140(6): 1561–1578. Published online 2017 Apr 27. doi: 10.1093/brain/awx095

Correction in:: Brain. 2018 Mar; 141(3): e21.

PMCID:: PMC6402316

Abstract Article PDF–1.1M

Select item 58411488.

TMEM106B and myelination: rare leukodystrophy families reveal unexpected connections

Xiaolai Zhou, Rosa Rademakers

Brain. 2017 Dec; 140(12): 3069–3080. Published online 2017 Nov 29. doi: 10.1093/brain/awx318

PMCID:: PMC5841148

Abstract Article PDF–386K

Select item 58155749.

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 548788410.

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts

E. Jurkiewicz, D. Dunin-Wąsowicz, D. Gieruszczak-Białek, K. Malczyk, K. Guerrero, M. Gutierrez, L. Tran, G. Bernard

Clin Neuroradiol. 2017; 27(2): 213–220. Published online 2015 Oct 19. doi: 10.1007/s00062-015-0472-1

PMCID:: PMC5487884

Abstract Article PDF–785K

Select item 493874711.

PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive

Maha S. Zaki, Gifty Bhat, Tipu Sultan, Mahmoud Issa, Hea-Jin Jung, Esra Dikoglu, Laila Selim, Imam Gamal, Mohamed S. Abdel-Hamid, Ghada Abdel-Salam, Isaac Marin-Valencia, Joseph G. Gleeson

Ann Neurol. Author manuscript; available in PMC 2017 Jul 1.

Published in final edited form as: Ann Neurol. 2016 Jul; 80(1): 59–70. Published online 2016 Jun 1. doi: 10.1002/ana.24678

PMCID:: PMC4938747

Abstract Article PDF–1.0M

Select item 424846112.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Nicole I. Wolf, Adeline Vanderver, Rosalina M.L. van Spaendonk, Raphael Schiffmann, Bernard Brais, Marianna Bugiani, Erik Sistermans, Coriene Catsman-Berrevoets, Johan M. Kros, Pedro Soares Pinto, Daniela Pohl, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Sébastien Fribourg, Michelle Demos, Amy Pizzino, Sakkubai Naidu, Kether Guerrero, Marjo S. van der Knaap, Geneviève Bernard

Neurology. 2014 Nov 18; 83(21): 1898–1905. doi: 10.1212/WNL.0000000000001002

PMCID:: PMC4248461

Abstract Article PDF–703K

Select item 331287913.

Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein

Elisabetta Gazzerro, Simona Baldassari, Caterina Giacomini, Veronica Musante, Floriana Fruscione, Veronica La Padula, Roberta Biancheri, Sonia Scarfì, Valeria Prada, Federica Sotgia, Ian D. Duncan, Federico Zara, Hauke B. Werner, Michael P. Lisanti, Lucilla Nobbio, Anna Corradi, Carlo Minetti

PLoS One. 2012; 7(3): e32180. Published online 2012 Mar 26. doi: 10.1371/journal.pone.0032180

PMCID:: PMC3312879

Abstract Article PDF–1.6M

Select item 313129514.

Pathologic and Phenotypic Alterations in a Mouse Expressing a Connexin47 Missense Mutation That Causes Pelizaeus-Merzbacher–Like Disease in Humans

Oliver Tress, Marta Maglione, Armin Zlomuzica, Dennis May, Nikolai Dicke, Joachim Degen, Ekrem Dere, Helmut Kettenmann, Dieter Hartmann, Klaus Willecke

PLoS Genet. 2011 Jul; 7(7): e1002146. Published online 2011 Jul 7. doi: 10.1371/journal.pgen.1002146

PMCID:: PMC3131295

Abstract Article PDF–4.3M

Select item 302407915.

Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice

Jane H. Christensen, Marit N. Nielsen, Jakob Hansen, Annette Füchtbauer, Ernst-Martin Füchtbauer, Mark West, Thomas J. Corydon, Niels Gregersen, Peter Bross

Cell Stress Chaperones. 2010 Nov; 15(6): 851–863. Published online 2010 Apr 12. doi: 10.1007/s12192-010-0194-x