{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T07:42:11Z","timestamp":1777794131223,"version":"3.51.4"},"reference-count":99,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T00:00:00Z","timestamp":1723161600000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Immunoglobulin Mu\u2010binding protein 2 (\n                    <jats:italic>IGHMBP2<\/jats:italic>\n                    ) pathogenic variants result in the fatal, neurodegenerative disease spinal muscular atrophy with respiratory distress type 1 (SMARD1) and the milder, Charcot\u2013Marie\u2010Tooth (CMT) type 2S (CMT2S) neuropathy. More than 20\u2009years after the link between\n                    <jats:italic>IGHMBP2<\/jats:italic>\n                    and SMARD1 was revealed, and 10\u2009years after the discovery of the association between\n                    <jats:italic>IGHMBP2<\/jats:italic>\n                    and CMT2S, the pathogenic mechanism of these diseases is still not well defined. The discovery that IGHMBP2 functions as an RNA\/DNA helicase was an important step, but it did not reveal the pathogenic mechanism. Helicases are enzymes that use ATP hydrolysis to catalyse the separation of nucleic acid strands. They are involved in numerous cellular processes, including DNA repair and transcription; RNA splicing, transport, editing and degradation; ribosome biogenesis; translation; telomere maintenance; and homologous recombination. IGHMBP2 appears to be a multifunctional factor involved in several cellular processes that regulate gene expression. It is difficult to determine which processes, when dysregulated, lead to pathology. Here, we summarise our current knowledge of the clinical presentation of\n                    <jats:italic>IGHMBP2<\/jats:italic>\n                    \u2010related diseases. We also overview the available models, including yeast, mice and cells, which are used to study the function of IGHMBP2 and the pathogenesis of the related diseases. Further, we discuss the structure of the IGHMBP2 protein and its postulated roles in cellular functioning. Finally, we present potential anomalies that may result in the neurodegeneration observed in\n                    <jats:italic>IGHMBP2<\/jats:italic>\n                    \u2010related disease and highlight the most prominent ones.\n                  <\/jats:p>","DOI":"10.1111\/nan.13005","type":"journal-article","created":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T07:35:05Z","timestamp":1723188905000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The molecular mechanisms that underlie\n                    <i>IGHMBP2<\/i>\n                    \u2010related diseases"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2649-6468","authenticated-orcid":false,"given":"Weronika","family":"Rzepnikowska","sequence":"first","affiliation":[{"name":"Neuromuscular Unit Mossakowski Medical Research Institute Polish Academy of Sciences  Warsaw 02\u2010106 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Kaminska","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Biophysics Polish Academy of Sciences  Warsaw 02\u2010106 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrzej","family":"Kocha\u0144ski","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Mossakowski Medical Research Institute Polish Academy of Sciences  Warsaw 02\u2010106 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,8,9]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/21.8.1761"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021\u20109258(19)85357\u20107"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.15.7831"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0896\u20106273(00)80652\u20102"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng703"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022\u20102836(02)01381\u20105"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks792"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.10.002"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2014.06.004"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.1500078"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23179913"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac283"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/biology12060867"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018\u2010020\u201003492\u20100"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001220"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2023.1252075"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14874"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.06.457"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2024.1165492"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.53.1.33"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2011\u20100544"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.02.005"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.08.010"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.05.002"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.12606"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines12040845"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.08.001"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200112104"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1080\/27694127.2023.2236407"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.036830"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11030310"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21124277"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241310696"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.117.300124"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.211649.116"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12020300"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijbiomac.2023.126140"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11070828"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23095106"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22020914"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109\u2010008\u20100402\u20107"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh222"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293010"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2019.10.032"},{"key":"e_1_2_11_46_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx434"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh129"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab317"},{"key":"e_1_2_11_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022\u20102275(20)33887\u20106"},{"key":"e_1_2_11_50_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.8.1733"},{"key":"e_1_2_11_51_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp028"},{"key":"e_1_2_11_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sbi.2010.03.011"},{"key":"e_1_2_11_53_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells12030419"},{"key":"e_1_2_11_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/wrna.1682"},{"key":"e_1_2_11_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2023.08.001"},{"key":"e_1_2_11_56_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010018\u201006313\u2010y"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