PMC Articles for MedGen (Select 863786) - PMC

Select item 108969781.

A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients

Van Khanh Tran, My Ha Cao, Thi Thanh Hai Nguyen, Phuong Thi Le, Hai Anh Tran, Dung Chi Vu, Ha Thu Nguyen, Mai Thi Phương Nguyen, The-Hung Bui, Thanh Binh Nguyen, Thanh Van Ta, Thinh Huy Tran

Front Pediatr. 2024; 12: 1165492. Published online 2024 Feb 13. doi: 10.3389/fped.2024.1165492

PMCID:: PMC10896978

Abstract Article PDF–4.4M

Select item 106908082.

Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review

Yuan Tian, Jinfang Xing, Ying Shi, Enwu Yuan

Front Neurosci. 2023; 17: 1252075. Published online 2023 Nov 17. doi: 10.3389/fnins.2023.1252075

PMCID:: PMC10690808

Abstract Article PDF–1.5M

Select item 100775003.

Clinically relevant mouse models of Charcot–Marie–Tooth type 2S

Paige B Martin, Sarah E Holbrook, Amy N Hicks, Timothy J Hines, Laurent P Bogdanik, Robert W Burgess, Gregory A Cox

Hum Mol Genet. 2023 Apr 15; 32(8): 1276–1288. Published online 2022 Nov 22. doi: 10.1093/hmg/ddac283

PMCID:: PMC10077500

Abstract Article PDF–2.0M

Select item 99773104.

ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activity

Gangadhar P. Vadla, Sara M. Ricardez Hernandez, Jiude Mao, Mona O. Garro-Kacher, Zachary C. Lorson, Ronin P. Rice, Sarah A. Hansen, Christian L. Lorson, Kamal Singh, Monique A. Lorson

JCI Insight. 2023 Jan 24; 8(2): e164608. Published online 2023 Jan 24. doi: 10.1172/jci.insight.164608

PMCID:: PMC9977310

Abstract Article PDF–7.2M

Select item 94563505.

Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model

Weronika Rzepnikowska, Joanna Kaminska, Andrzej Kochański

Int J Mol Sci. 2022 Sep; 23(17): 9913. Published online 2022 Aug 31. doi: 10.3390/ijms23179913

PMCID:: PMC9456350

Abstract Article PDF–1.9M

Select item 63120416.

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Melissa R Mandarakas, Manoj P Menezes, Kristy J Rose, Rosemary Shy, Kate Eichinger, Maria Foscan, Timothy Estilow, Rachel Kennedy, Karen Herbert, Paula Bray, Kathryn Refshauge, Monique M Ryan, Eppie M Yiu, Michelle Farrar, Hugo Sampaio, Isabella Moroni, Emanuela Pagliano, Davide Pareyson, Sabrina W Yum, David N Herrmann, Gyula Acsadi, Michael E Shy, Joshua Burns, Oranee Sanmaneechai

Brain. 2018 Dec; 141(12): 3319–3330. Published online 2018 Nov 22. doi: 10.1093/brain/awy280

Correction in:: Brain. 2019 Apr; 142(4): e14.

PMCID:: PMC6312041

Abstract Article PDF–857K

Select item 63022197.

IGHMBP2 mutation associated with organ-specific autonomic dysfunction

Pedro J. Tomaselli, Alejandro Horga, Alexander M. Rossor, Zane Jaunmuktane, Andrea Cortese, Julian C. Blake, Natalia Zarate-Lopez, Henry Houlden, Mary M. Reilly

Neuromuscul Disord. 2018 Dec; 28(12): 1012–1015. doi: 10.1016/j.nmd.2018.08.010

PMCID:: PMC6302219

Abstract Article

Select item 58395548.

ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L. Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H. St George-Hyslop, Orlando G. P. Barsottini, Toshitaka Kawarai, Antonio Orlacchio

Brain. 2016 Jan; 139(1): 73–85. Published online 2015 Nov 10. doi: 10.1093/brain/awv320

PMCID:: PMC5839554

Abstract Article PDF–1.4M

Select item 110482209.

Disease Mechanisms and Therapeutic Approaches in SMARD1—Insights from Animal Models and Cell Models

Sibylle Jablonka, Ezgi Yildirim

Biomedicines. 2024 Apr; 12(4): 845. Published online 2024 Apr 11. doi: 10.3390/biomedicines12040845

PMCID:: PMC11048220

Abstract Article PDF–1.3M

Select item 1076006110.

IGHMBP2 deletion suppresses translation and activates the integrated stress response

Jesslyn E. Park, Hetvee Desai, José Liboy-Lugo, Sohyun Gu, Ziad Jowhar, Albert Xu, Stephen N. Floor

Version 2. bioRxiv. Preprint. 2023 Dec 12. doi: 10.1101/2023.12.11.571166

Published in:: Life Sci Alliance. 2024 Aug; 7(8): e202302554.

PMCID:: PMC10760061

Abstract Article PDF–8.7M

Select item 1029531511.

In Vitro Modeling as a Tool for Testing Therapeutics for Spinal Muscular Atrophy and IGHMBP2-Related Disorders

Julieth Andrea Sierra-Delgado, Shrestha Sinha-Ray, Abuzar Kaleem, Meysam Ganjibakhsh, Mohini Parvate, Samantha Powers, Xiaojin Zhang, Shibi Likhite, Kathrin Meyer

Biology (Basel) 2023 Jun; 12(6): 867. Published online 2023 Jun 16. doi: 10.3390/biology12060867

PMCID:: PMC10295315

Abstract Article PDF–4.3M

Select item 956837312.

中国人群遗传性周围神经病的致病基因分布

刘小璇, 段晓慧, 张朔, 孙阿萍, 张英爽, 樊东升

Beijing Da Xue Xue Bao Yi Xue Ban. 2022 Oct 18; 54(5): 874–883. Chinese. Published online 2022 Sep 14. doi: 10.19723/j.issn.1671-167X.2022.05.015

PMCID:: PMC9568373

Abstract Article PDF–3.2M

Select item 902923313.

The Ighmbp2^D564N mouse model is the first SMARD1 model to demonstrate respiratory defects

Caley E Smith, Monique A Lorson, Sara M Ricardez Hernandez, Zayd Al Rawi, Jiude Mao, Jose Marquez, Eric Villalón, Amy N Keilholz, Catherine L Smith, Mona O Garro-Kacher, Toni Morcos, Daniel J Davis, Elizabeth C Bryda, Nicole L Nichols, Christian L Lorson

Hum Mol Genet. 2022 Apr 15; 31(8): 1293–1307. Published online 2021 Nov 2. doi: 10.1093/hmg/ddab317

PMCID:: PMC9029233

Abstract Article PDF–2.0M

Select item 884275714.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea

J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652

PMCID:: PMC8842757

Abstract Article PDF–779K

Select item 701168715.

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

Andrea Cortese, Janel E. Wilcox, James M. Polke, Roy Poh, Mariola Skorupinska, Alexander M. Rossor, Matilde Laura, Pedro J. Tomaselli, Henry Houlden, Michael E. Shy, Mary M. Reilly

Neurology. 2020 Jan 7; 94(1): e51–e61. doi: 10.1212/WNL.0000000000008672

Correction in:: Neurology. 2022 Mar 1; 98(9): 384.

Correction in:: Neurology. 2022 Jul 5; 99(1): 42.

PMCID:: PMC7011687

Abstract Article PDF–512K

Select item 656556416.

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

Thomas A. Cassini, Laura Duncan, Lynette C. Rives, John H. Newman, John A. Phillips, Mary E. Koziura, Jennifer Brault, Rizwan Hamid, Joy Cogan, Undiagnosed Diseases Network

Mol Genet Genomic Med. 2019 Jun; 7(6): e00676. Published online 2019 Apr 25. doi: 10.1002/mgg3.676

PMCID:: PMC6565564

Abstract Article PDF–775K

Select item 422564717.

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, Boglarka Bansagi, Magdalena Zimon, Alejandro Horga, Zane Jaunmuktane, Paola Saveri, Vedrana Milic Rasic, Jonathan Baets, Marina Bartsakoulia, Rafal Ploski, Pawel Teterycz, Milos Nikolic, Ros Quinlivan, Matilde Laura, Mary G. Sweeney, Franco Taroni, Michael P. Lunn, Isabella Moroni, Michael Gonzalez, Michael G. Hanna, Conceicao Bettencourt, Elodie Chabrol, Andre Franke, Katja von Au, Markus Schilhabel, Dagmara Kabzińska, Irena Hausmanowa-Petrusewicz, Sebastian Brandner, Siew Choo Lim, Haiwei Song, Byung-Ok Choi, Rita Horvath, Ki-Wha Chung, Stephan Zuchner, Davide Pareyson, Matthew Harms, Mary M. Reilly, Henry Houlden

Am J Hum Genet. 2014 Nov 6; 95(5): 590–601. doi: 10.1016/j.ajhg.2014.10.002

PMCID:: PMC4225647

Abstract Article PDF–2.9M

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