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Page 1
Models for IGHMBP2-associated diseases: an overview and a roadmap for the future.
Rzepnikowska W, Kochański A. Rzepnikowska W, et al. Neuromuscul Disord. 2021 Dec;31(12):1266-1278. doi: 10.1016/j.nmd.2021.08.001. Epub 2021 Aug 13. Neuromuscul Disord. 2021. PMID: 34785121 Free article. Review.
Thus, disease models are an integral part of the study of enigmatic proteins such as immunoglobulin mu-binding protein 2 (IGHMBP2). IGHMBP2 has been well defined as a helicase, however there is little known about its role in cellular processes. ...We highlight the s …
Thus, disease models are an integral part of the study of enigmatic proteins such as immunoglobulin mu-binding protein 2 (IGHMBP2). …
IGHMBP2 deletion suppresses translation and activates the integrated stress response.
Park JE, Desai H, Liboy-Lugo J, Gu S, Jowhar Z, Xu A, Floor SN. Park JE, et al. bioRxiv [Preprint]. 2023 Dec 12:2023.12.11.571166. doi: 10.1101/2023.12.11.571166. bioRxiv. 2023. PMID: 38168189 Free PMC article. Preprint.
To uncover the cellular consequences of perturbing IGHMBP2, we generated full and partial IGHMBP2 deletion K562 cell lines. ...Our work expands upon the impact of IGHMBP2 in translation and elucidates molecular mechanisms that may link mutant IGHMBP2 t …
To uncover the cellular consequences of perturbing IGHMBP2, we generated full and partial IGHMBP2 deletion K562 cell lines. .. …
Charcot-Marie-Tooth Hereditary Neuropathy Overview.
Bird TD. Bird TD. 1998 Sep 28 [updated 2024 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1998 Sep 28 [updated 2024 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301532 Free Books & Documents. Review.
RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA homeostasis.
Prusty AB, Hirmer A, Sierra-Delgado JA, Huber H, Guenther UP, Schlosser A, Dybkov O, Yildirim E, Urlaub H, Meyer KC, Jablonka S, Erhard F, Fischer U. Prusty AB, et al. Cell Rep. 2024 Feb 27;43(2):113802. doi: 10.1016/j.celrep.2024.113802. Epub 2024 Feb 17. Cell Rep. 2024. PMID: 38368610 Free article.
The absence of IGHMBP2 causes ribosome stalling at the start codon of target mRNAs, leading to reduced translation efficiency. The main mRNA targets of IGHMBP2-mediated regulation encode for components of the THO complex (THOC), linking IGHMBP2 to mRNA produc …
The absence of IGHMBP2 causes ribosome stalling at the start codon of target mRNAs, leading to reduced translation efficiency. The ma …
[IGHMBP2 overexpression promotes cell migration and invasion in esophageal squamous carcinoma].
Wang CL, Hao JJ, Wu LF, Pan BQ, Xu X, Cai Y, Wang MR, Jia XM. Wang CL, et al. Yi Chuan. 2015 Apr;37(4):360-366. doi: 10.16288/j.yczz.14-371. Yi Chuan. 2015. PMID: 25881701 Chinese.
IGHMBP2 encodes a helicase involved in DNA replication and repair. IGHMBP2 protein also regulates gene transcription. The present study aims to explore the amplification of IGHMBP2 and its potential role in ESCC. ...
IGHMBP2 encodes a helicase involved in DNA replication and repair. IGHMBP2 protein also regulates gene transcription. The pres …
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.
Tian Y, Xing J, Shi Y, Yuan E. Tian Y, et al. Front Neurosci. 2023 Nov 17;17:1252075. doi: 10.3389/fnins.2023.1252075. eCollection 2023. Front Neurosci. 2023. PMID: 38046662 Free PMC article.
METHODS: We conducted a systematic literature search using the PubMed database to identify studies published up to April 1st, 2023, that investigated the association between IGHMBP2 mutations and SMARD1 or CMT2S. We compared the non-truncating mutations and truncating muta …
METHODS: We conducted a systematic literature search using the PubMed database to identify studies published up to April 1st, 2023, that inv …
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
Liu L, Li X, Hu Z, Mao X, Zi X, Xia K, Tang B, Zhang R. Liu L, et al. Neuromuscul Disord. 2017 Feb;27(2):193-199. doi: 10.1016/j.nmd.2016.11.008. Epub 2016 Nov 18. Neuromuscul Disord. 2017. PMID: 28065684
IGHMBP2 mutations had been exclusively associated with spinal muscular atrophy with respiratory distress type I. ...We found four families with autosomal recessive IGHMBP2 mutations, and the frequency of IGHMBP2 mutations is 6.5% in CMT2 without dominant inhe …
IGHMBP2 mutations had been exclusively associated with spinal muscular atrophy with respiratory distress type I. ...We found four fam …
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
IGHMBP2 mutation associated with organ-specific autonomic dysfunction.
Tomaselli PJ, Horga A, Rossor AM, Jaunmuktane Z, Cortese A, Blake JC, Zarate-Lopez N, Houlden H, Reilly MM. Tomaselli PJ, et al. Neuromuscul Disord. 2018 Dec;28(12):1012-1015. doi: 10.1016/j.nmd.2018.08.010. Epub 2018 Aug 29. Neuromuscul Disord. 2018. PMID: 30385095 Free PMC article.
Biallelic mutations in the IGHMBP2 have been associated with two distinct phenotypes: spinal muscular atrophy with respiratory distress type 1 (SMARD1) and CMT2S. ...This case report confirms that IGHMBP2 related disorders can result in a severe peripheral neuropath …
Biallelic mutations in the IGHMBP2 have been associated with two distinct phenotypes: spinal muscular atrophy with respiratory distre …
Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations.
Lei L, Zhiqiang L, Xiaobo L, Zhengmao H, Shunxiang H, Huadong Z, Beisha T, Ruxu Z. Lei L, et al. Neuromuscul Disord. 2022 Jul;32(7):564-571. doi: 10.1016/j.nmd.2022.05.002. Epub 2022 May 11. Neuromuscul Disord. 2022. PMID: 35660062
Autosomal recessive Charcot-Marie-Tooth disease Type 2S (AR-CMT2S) caused by IGHMBP2 mutation was first reported in 2014, and an increasing number of cases have been reported in the past eight years. We detected 15 distinct IGHMBP2 mutations among 8 typical AR-CMT2S …
Autosomal recessive Charcot-Marie-Tooth disease Type 2S (AR-CMT2S) caused by IGHMBP2 mutation was first reported in 2014, and an incr …
161 results