PMC Articles for MedGen (Select 1633653) - PMC

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Items: 16

Select item 80371501.

Hypomyelinating Leukodystrophy 15 (HLD15)-Associated Mutation of EPRS1 Leads to Its Polymeric Aggregation in Rab7-Positive Vesicle Structures, Inhibiting Oligodendroglial Cell Morphological Differentiation

Sui Sawaguchi, Mizuki Goto, Yukino Kato, Marina Tanaka, Kenji Tago, Hiroaki Oizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Yuki Miyamoto, Junji Yamauchi

Polymers (Basel) 2021 Apr; 13(7): 1074. Published online 2021 Mar 29. doi: 10.3390/polym13071074

PMCID:: PMC8037150

Abstract Article PDF–6.0M

Select item 113486792.

Identification of PMD subgroups using a myelination score for PMD

Inga Harting, Sven F. Garbade, Stefan D. Rosendaal, Alexander Mohr, Omar Sherbini, Adeline Vanderver, Nicole I. Wolf

Eur J Paediatr Neurol. Author manuscript; available in PMC 2024 Aug 27.

Published in final edited form as: Eur J Paediatr Neurol. 2022 Nov; 41: 71–79. Published online 2022 Nov 4. doi: 10.1016/j.ejpn.2022.10.003

PMCID:: PMC11348679

Abstract Article PDF–1.4M

Select item 111062423.

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m⁶A site accessibility

Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L. Fox

Nat Commun. 2024; 15: 4284. Published online 2024 May 20. doi: 10.1038/s41467-024-48549-x

PMCID:: PMC11106242

Abstract Article PDF–5.2M

Select item 86112274.

Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report

Sepehr Javadikooshesh, Hooshang Zaimkohan, Parisa Pourghorban, Fatemeh Bahramim, Nader Ebadi

Iran J Med Sci. 2021 Nov; 46(6): 493–497. doi: 10.30476/IJMS.2021.87126.1736

PMCID:: PMC8611227

Abstract Article PDF–601K

Select item 83107915.

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing

Huifang Yan, Haoran Ji, Thomas Kubisiak, Ye Wu, Jiangxi Xiao, Qiang Gu, Yanling Yang, Han Xie, Taoyun Ji, Kai Gao, Dongxiao Li, Hui Xiong, Zhen Shi, Ming Li, Yuehua Zhang, Ruoyu Duan, Xinhua Bao, Yuwu Jiang, Margit Burmeister, Jingmin Wang

J Hum Genet. 2021; 66(8): 761–768. Published online 2021 Feb 18. doi: 10.1038/s10038-020-00896-5

PMCID:: PMC8310791

Abstract Article PDF–1.1M

Select item 45578386.

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description

Roberta Battini, Silvano Bertelloni, Guja Astrea, Manuela Casarano, Lorena Travaglini, Giampiero Baroncelli, Rosa Pasquariello, Enrico Bertini, Giovanni Cioni

BMC Med Genet. 2015; 16: 53. Published online 2015 Jul 25. doi: 10.1186/s12881-015-0203-0

PMCID:: PMC4557838

Abstract Article PDF–2.4M

Select item 33128797.

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 31312958.

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 81631229.

A hypomyelinating leukodystrophy in German Shepherd dogs

Pia R. Quitt, Andreas Brühschwein, Kaspar Matiasek, Franziska Wielaender, Veera Karkamo, Marjo K. Hytönen, Andrea Meyer‐Lindenberg, Berett Dengler, Tosso Leeb, Hannes Lohi, Andrea Fischer

J Vet Intern Med. 2021 May-Jun; 35(3): 1455–1465. Published online 2021 Mar 18. doi: 10.1111/jvim.16085

PMCID:: PMC8163122

Abstract Article PDF–3.2M

Select item 795260810.

Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy

Soma Furukawa, Misako Kunii, Hiroshi Doi, Naohide Kondo, Aya Ogura, Koichi Hirabuki, Takayuki Itoh, Naomichi Matsumoto, Fumiaki Tanaka, Masahisa Katsuno, Yasuhiro Ito

Front Neurol. 2021; 12: 622355. Published online 2021 Feb 26. doi: 10.3389/fneur.2021.622355

PMCID:: PMC7952608

Abstract Article PDF–795K

Select item 615473311.

Design, Synthesis and Fungicidal Activity of 2-Substituted Phenyl-2-oxo-, 2-Hydroxy- and 2-Acyloxyethylsulfonamides

Minlong Wang, Peng Rui, Caixiu Liu, Ying Du, Peiwen Qin, Zhiqiu Qi, Mingshan Ji, Xinghai Li, Zining Cui

Molecules. 2017 May; 22(5): 738. Published online 2017 May 4. doi: 10.3390/molecules22050738

PMCID:: PMC6154733

Abstract Article PDF–851K

Select item 1112076312.

A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?

Dimitra Siori, Dimitrios Vlachakis, Periklis Makrythanasis, Joanne Traeger-Synodinos, Danai Veltra, Afrodite Kampouraki, George P. Chrousos

Genes (Basel) 2024 May; 15(5): 525. Published online 2024 Apr 23. doi: 10.3390/genes15050525

PMCID:: PMC11120763

Abstract Article PDF–1.7M

Select item 1105008513.

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms

Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D’Amico, Enrico Silvio Bertini, Francesco Nicita

Genes (Basel) 2024 Apr; 15(4): 508. Published online 2024 Apr 18. doi: 10.3390/genes15040508

PMCID:: PMC11050085

Abstract Article PDF–734K

Select item 802826714.

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus‐Merzbacher disease

Montserrat Ruiz, Mélina Bégou, Nathalie Launay, Pablo Ranea‐Robles, Patrizia Bianchi, Jone López‐Erauskin, Laia Morató, Cristina Guilera, Bérengère Petit, Catherine Vaurs‐Barriere, Céline Guéret‐Gonthier, Marie‐Noëlle Bonnet‐Dupeyron, Stéphane Fourcade, Johan Auwerx, Odile Boespflug‐Tanguy, Aurora Pujol

Brain Pathol. 2018 Sep; 28(5): 611–630. Published online 2017 Dec 26. doi: 10.1111/bpa.12571

PMCID:: PMC8028267

Abstract Article PDF–1.1M

Select item 675911715.

A 42-year-old woman with 4H leukodystrophy caused by a homozygous mutation in POLR3A gene

Yi-Ming Yang, Zhong-Min Zhao, Yan-Li Jia, Yang-Juan Jia, Ning Han, Jian-Hua Wang

Chin Med J (Engl) 2019 Aug 5; 132(15): 1879–1880. Published online 2019 Aug 5. doi: 10.1097/CM9.0000000000000328

PMCID:: PMC6759117

Article PDF–187K

Select item 302407916.

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

PMCID:: PMC3024079

Abstract Article PDF–674K

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PMC Articles for MedGen (Select 1633653) (16)
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sugar phosphate nucleotidyltransferase [Clostridium sp. M62/1]
sugar phosphate nucleotidyltransferase [Clostridium sp. M62/1]
gi|505386264|ref|WP_015573366.1|

Protein
alpha-mannosidase 2 isoform X1 [Homo sapiens]
alpha-mannosidase 2 isoform X1 [Homo sapiens]
gi|2462602529|ref|XP_054208571.1|

Protein

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