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Distal hereditary motor neuropathies.
Tazir M, Nouioua S. Tazir M, et al. Rev Neurol (Paris). 2024 Dec;180(10):1031-1036. doi: 10.1016/j.neurol.2023.09.005. Epub 2024 May 3. Rev Neurol (Paris). 2024. PMID: 38702287 Review.
Distal hereditary motor neuropathy that predominates in the upper limbs is linked mainly to three genes: GARS, BSCL2 and REEP1, whereas dHMN with vocal cord palsy is associated with SLC5A7, DCTN1 and TRPV4 genes. Among the rare AR forms of dHMN like IGHMBP2 and DNAJB2, the …
Distal hereditary motor neuropathy that predominates in the upper limbs is linked mainly to three genes: GARS, BSCL2 and REEP1, whereas dHMN …
IGHMBP2 deletion suppresses translation and activates the integrated stress response.
Park J, Desai H, Liboy-Lugo JM, Gu S, Jowhar Z, Xu A, Floor SN. Park J, et al. Life Sci Alliance. 2024 May 21;7(8):e202302554. doi: 10.26508/lsa.202302554. Print 2024 Aug. Life Sci Alliance. 2024. PMID: 38803225 Free PMC article.
To uncover the cellular consequences of perturbing IGHMBP2, we generated full and partial IGHMBP2 deletion K562 cell lines. Using polysome profiling and a nascent protein synthesis assay, we found that IGHMBP2 deletion modestly reduces global translation. ... …
To uncover the cellular consequences of perturbing IGHMBP2, we generated full and partial IGHMBP2 deletion K562 cell lines. Us …
The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association.
Vadla GP, Singh K, Lorson CL, Lorson MA. Vadla GP, et al. Biochim Biophys Acta Mol Basis Dis. 2024 Apr;1870(4):167091. doi: 10.1016/j.bbadis.2024.167091. Epub 2024 Feb 24. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38403020 Free PMC article.
The underlying biochemical mechanism of IGHMBP2 is unknown as well as the functional significance of IGHMBP2 mutations in disease severity. ...The IGHMBP2-D565N mutation has been identified in SMARD1 patients, while the IGHMBP2-H924Y mutation has been …
The underlying biochemical mechanism of IGHMBP2 is unknown as well as the functional significance of IGHMBP2 mutations in dise …
Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.
Ricardez Hernandez SM, Ahmed B, Al Rawi Y, Torres FJL, Garro Kacher MO, Smith CL, Al Rawi Z, Garcia J, Nichols NL, Lorson CL, Lorson MA. Ricardez Hernandez SM, et al. Exp Neurol. 2025 Jan;383:115025. doi: 10.1016/j.expneurol.2024.115025. Epub 2024 Oct 24. Exp Neurol. 2025. PMID: 39461706 Free PMC article.
Previously, we reported the development and characterization of Ighmbp2(D564N/D564N) mice and in this manuscript, we examine two mutations: D565N (D564N in mice) and H924Y (H922Y in mice) in the Ighmbp2(H922Y/H922Y) and Ighmbp2(D564N/H922Y) contexts. ...Impor …
Previously, we reported the development and characterization of Ighmbp2(D564N/D564N) mice and in this manuscript, we examine two muta …
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 …
Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.
Tkemaladze T, Bregvadze K, Abashishvili L, Chikvinidze G, Delgado Vega AM, Akbar F, Khan S, Kirmani S. Tkemaladze T, et al. Am J Med Genet A. 2025 Sep;197(9):e64116. doi: 10.1002/ajmg.a.64116. Epub 2025 May 12. Am J Med Genet A. 2025. PMID: 40353295
Pathogenic variants in IGHMBP2 have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Autosomal Recessive Charcot-Marie-Tooth disease type 2S (AR-CMT2S), as well as a relatively wide spectrum of rare, atypical phenotypes. ...This st …
Pathogenic variants in IGHMBP2 have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Autoso …
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 …
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Lord J, Oquendo CJ, Wai HA, Holloway JG, Martin-Geary A, Blakes AJM, Arciero E, Domcke S, Childs AM, Low K, Rankin J; Genomics England Research Consortium; Baralle D, Martin HC, Whiffin N. Lord J, et al. Genet Med. 2024 Dec;26(12):101249. doi: 10.1016/j.gim.2024.101249. Epub 2024 Sep 3. Genet Med. 2024. PMID: 39243181 Free PMC article.
After detailed characterization, we identified likely diagnoses for 3 probands (in GAA, NPHP3, and PKHD1) and candidate diagnoses in a further 3 (PAH, LAMA2, and IGHMBP2). CONCLUSION: We developed a systematic approach to uncover new diagnoses involving compound heterozygo …
After detailed characterization, we identified likely diagnoses for 3 probands (in GAA, NPHP3, and PKHD1) and candidate diagnoses in a furth …
Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.
Martin PB, Holbrook SE, Hicks AN, Hines TJ, Bogdanik LP, Burgess RW, Cox GA. Martin PB, et al. Hum Mol Genet. 2023 Apr 6;32(8):1276-1288. doi: 10.1093/hmg/ddac283. Hum Mol Genet. 2023. PMID: 36413117 Free PMC article.
Charcot-Marie-Tooth disease is an inherited peripheral neuropathy that is clinically and genetically heterogenous. Mutations in IGHMBP2, a ubiquitously expressed DNA/RNA helicase, have been shown to cause the infantile motor neuron disease spinal muscular atrophy with resp …
Charcot-Marie-Tooth disease is an inherited peripheral neuropathy that is clinically and genetically heterogenous. Mutations in IGHMBP2 …
Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review.
Yavas C, Dogan M, Ozgor B, Akbulut E, Eroz R. Yavas C, et al. Brain Dev. 2025 Feb;47(1):104313. doi: 10.1016/j.braindev.2024.104313. Epub 2024 Dec 19. Brain Dev. 2025. PMID: 39705914 Review.
Protein tertiary structures expressed in the IGHMBP2 gene were tested for topological and conformational changes using modeling programs and in-silico tools. ...CONCLUSION: Understanding the clinical impact of the (c.2568_2569del p.Gly857Alafs*27) mutation will enhance our …
Protein tertiary structures expressed in the IGHMBP2 gene were tested for topological and conformational changes using modeling progr …
27 results