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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 …
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 article.
The underlying biochemical mechanism of IGHMBP2 is unknown as well as the functional significance of IGHMBP2 mutations in disease severity. ...In the context of the compound heterozygous patient, we demonstrate that the total biochemical activity associated with …
The underlying biochemical mechanism of IGHMBP2 is unknown as well as the functional significance of IGHMBP2 mutations in dise …
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 …
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 …
Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.
Rzepnikowska W, Kaminska J, Kochański A. Rzepnikowska W, et al. Int J Mol Sci. 2022 Aug 31;23(17):9913. doi: 10.3390/ijms23179913. Int J Mol Sci. 2022. PMID: 36077311 Free PMC article.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a heritable neurodegenerative disease characterized by rapid respiratory failure within the first months of life and progressive muscle weakness and wasting. Although the causative gene, IGHMBP2, is well …
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a heritable neurodegenerative disease characterized by rapid respirator …
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Cortese A, Wilcox JE, Polke JM, Poh R, Skorupinska M, Rossor AM, Laura M, Tomaselli PJ, Houlden H, Shy ME, Reilly MM. Cortese A, et al. Neurology. 2020 Jan 7;94(1):e51-e61. doi: 10.1212/WNL.0000000000008672. Epub 2019 Dec 11. Neurology. 2020. PMID: 31827005 Free PMC article.
Mutations in GJB1, MFN2, and MPZ accounted for 39% of cases that received genetic confirmation, while the remainder of positive cases had mutations in diverse genes, including SH3TC2, GDAP1, IGHMBP2, LRSAM1, FDG4, and GARS, and another 12 less common genes. ...
Mutations in GJB1, MFN2, and MPZ accounted for 39% of cases that received genetic confirmation, while the remainder of positive cases had mu …
Impaired Local Translation of beta-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1).
Surrey V, Zöller C, Lork AA, Moradi M, Balk S, Dombert B, Saal-Bauernschubert L, Briese M, Appenzeller S, Fischer U, Jablonka S. Surrey V, et al. Neuroscience. 2018 Aug 21;386:24-40. doi: 10.1016/j.neuroscience.2018.06.019. Epub 2018 Jun 19. Neuroscience. 2018. PMID: 29928949
IGHMBP2 is a cytosolic protein that binds to ribosomes and polysomes, suggesting a role in mRNA metabolism. ...Ighmbp2-deficient motoneurons exhibited only moderate morphological aberrations such as a slight increase of axonal branches. ...
IGHMBP2 is a cytosolic protein that binds to ribosomes and polysomes, suggesting a role in mRNA metabolism. ...Ighmbp2-deficie …
The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.
Smith CE, Lorson MA, Ricardez Hernandez SM, Al Rawi Z, Mao J, Marquez J, Villalón E, Keilholz AN, Smith CL, Garro-Kacher MO, Morcos T, Davis DJ, Bryda EC, Nichols NL, Lorson CL. Smith CE, et al. Hum Mol Genet. 2022 Apr 22;31(8):1293-1307. doi: 10.1093/hmg/ddab317. Hum Mol Genet. 2022. PMID: 34726235 Free PMC article.
Spinal muscular atrophy with respiratory distress type I (SMARD1) is a neurodegenerative disease defined by respiratory distress, muscle atrophy and sensory and autonomic nervous system defects. SMARD1 is a result of mutations within the IGHMBP2 gene. We have generated six …
Spinal muscular atrophy with respiratory distress type I (SMARD1) is a neurodegenerative disease defined by respiratory distress, muscle atr …
Identification of Key Osteoporosis Genes Through Comparative Analysis of Men's and Women's Osteoblast Transcriptomes.
Chen D, Li Y, Wang Q, Zhan P. Chen D, et al. Calcif Tissue Int. 2023 Dec;113(6):618-629. doi: 10.1007/s00223-023-01147-3. Epub 2023 Oct 25. Calcif Tissue Int. 2023. PMID: 37878026
Incorporating GWAS and mouse phenotype data revealed 9 key genes, including GMDS, SMOC2, SASH1, MMP2, AHCYL1, ARRDC2, IGHMBP2, ATP6V1A, and CTSK. These genes were differentially methylated in patient blood and differentiated high and low bone mineral density patients in pr …
Incorporating GWAS and mouse phenotype data revealed 9 key genes, including GMDS, SMOC2, SASH1, MMP2, AHCYL1, ARRDC2, IGHMBP2, ATP6V1 …
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Cassini TA, Duncan L, Rives LC, Newman JH, Phillips JA, Koziura ME, Brault J, Hamid R, Cogan J; Undiagnosed Diseases Network. Cassini TA, et al. Mol Genet Genomic Med. 2019 Jun;7(6):e00676. doi: 10.1002/mgg3.676. Epub 2019 Apr 25. Mol Genet Genomic Med. 2019. PMID: 31020813 Free PMC article.
Whole exome sequencing (WES) revealed a maternally inherited IGHMBP2 RV (c.1730T>C) predicted to be pathogenic, but no variant on the other allele was identified. ...Whole genome sequencing (WGS) confirmed the previously identified IGHMBP2 RV and identified a pat …
Whole exome sequencing (WES) revealed a maternally inherited IGHMBP2 RV (c.1730T>C) predicted to be pathogenic, but no variant on …
26 results