{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T08:12:18Z","timestamp":1783152738065,"version":"3.54.6"},"reference-count":45,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T00:00:00Z","timestamp":1763424000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100024339","name":"Monash Addiction Research Centre, Monash University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100024339","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["S10OD032246"],"award-info":[{"award-number":["S10OD032246"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["IA 52242"],"award-info":[{"award-number":["IA 52242"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Disease"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1016\/j.nbd.2025.107199","type":"journal-article","created":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T22:57:42Z","timestamp":1763765862000},"page":"107199","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology"],"prefix":"10.1016","volume":"217","author":[{"given":"F. Javier Llorente","family":"Torres","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roxanne","family":"Muchow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Woolridge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis","family":"Perez-Lopez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine L.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sai Goutham Reddy","family":"Yeddula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.D.W.","family":"Cornelison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. David","family":"Arnold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole L.","family":"Nichols","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian L.","family":"Lorson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique A.","family":"Lorson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nbd.2025.107199_bb0005","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1002\/acn3.23","article-title":"Electrophysiological biomarkers in spinal muscular atrophy: preclinical proof of concept","volume":"1","author":"Arnold","year":"2014","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.nbd.2025.107199_bb0010","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1038\/s41580-023-00628-5","article-title":"Cellular functions of eukaryotic RNA helicases and their links to human diseases","volume":"24","author":"Bohnsack","year":"2023","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.nbd.2025.107199_bb0015","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/S0378-1119(96)00630-0","article-title":"Evidence for regulation of transcription and replication of the human neurotropic virus JCV genome by the human S(mu)bp-2 protein in glial cells","volume":"185","author":"Chen","year":"1997","journal-title":"Gene"},{"key":"10.1016\/j.nbd.2025.107199_bb0020","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1086\/421054","article-title":"DNA\/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)","volume":"74","author":"Chen","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0025","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/j.ajhg.2014.10.002","article-title":"Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2","volume":"95","author":"Cottenie","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0030","doi-asserted-by":"crossref","first-page":"2115","DOI":"10.1093\/hmg\/ddp134","article-title":"Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery","volume":"18","author":"de Planell-Saguer","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0035","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.sbi.2010.03.011","article-title":"SF1 and SF2 helicases: family matters","volume":"20","author":"Fairman-Williams","year":"2010","journal-title":"Curr. Opin. Struct. Biol."},{"key":"10.1016\/j.nbd.2025.107199_bb0040","doi-asserted-by":"crossref","first-page":"17463","DOI":"10.1016\/S0021-9258(19)85357-7","article-title":"The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region","volume":"268","author":"Fukita","year":"1993","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.nbd.2025.107199_bb0045","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1086\/302636","article-title":"Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21","volume":"65","author":"Grohmann","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0050","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/ng703","article-title":"Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1","volume":"29","author":"Grohmann","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0055","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1002\/ana.10755","article-title":"Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)","volume":"54","author":"Grohmann","year":"2003","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.nbd.2025.107199_bb0060","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1093\/hmg\/ddh222","article-title":"Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)","volume":"13","author":"Grohmann","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0065","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1002\/humu.20525","article-title":"Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis","volume":"28","author":"Guenther","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.nbd.2025.107199_bb0070","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1093\/hmg\/ddp028","article-title":"IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)","volume":"18","author":"Guenther","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0075","doi-asserted-by":"crossref","first-page":"1800","DOI":"10.1093\/hmg\/ddae116","article-title":"Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1","volume":"33","author":"Holbrook","year":"2024","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0080","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1177\/0883073807310989","article-title":"Spinal muscular atrophy with respiratory distress type 1 (SMARD1)","volume":"23","author":"Kaindl","year":"2008","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.nbd.2025.107199_bb0085","doi-asserted-by":"crossref","DOI":"10.1523\/ENEURO.0558-20.2021","article-title":"MyelTracer: a semi-automated software for myelin g-ratio quantification","volume":"8","author":"Kaiser","year":"2021","journal-title":"eNeuro"},{"key":"10.1016\/j.nbd.2025.107199_bb0090","first-page":"245","article-title":"Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome","volume":"7","author":"Karpinski","year":"2014","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.nbd.2025.107199_bb0095","doi-asserted-by":"crossref","DOI":"10.1523\/JNEUROSCI.4434-08.2009","article-title":"Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice","volume":"29","author":"Kong","year":"2009","journal-title":"J. Neurosci."},{"key":"10.1016\/j.nbd.2025.107199_bb0100","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1089\/hum.2020.065","article-title":"Intralingual administration of AAVrh10-miR(SOD1) improves respiratory but not swallowing function in a superoxide dismutase-1 mouse model of amyotrophic lateral sclerosis","volume":"31","author":"Lind","year":"2020","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.nbd.2025.107199_bb0105","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.nmd.2016.11.008","article-title":"IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients","volume":"27","author":"Liu","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.nbd.2025.107199_bb0110","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1093\/hmg\/ddh129","article-title":"Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy","volume":"13","author":"Maddatu","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0115","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1093\/hmg\/ddac283","article-title":"Clinically relevant mouse models of Charcot-Marie-Tooth type 2S","volume":"32","author":"Martin","year":"2023","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0120","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/ng1303","article-title":"Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2","volume":"36","author":"Moreira","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0125","doi-asserted-by":"crossref","DOI":"10.26508\/lsa.202302554","article-title":"IGHMBP2 deletion suppresses translation and activates the integrated stress response","volume":"7","author":"Park","year":"2024","journal-title":"Life Sci. Alliance."},{"key":"10.1016\/j.nbd.2025.107199_bb0130","doi-asserted-by":"crossref","first-page":"10928","DOI":"10.1073\/pnas.93.20.10928","article-title":"Mammalian orthologues of a yeast regulator of nonsense transcript stability","volume":"93","author":"Perlick","year":"1996","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.nbd.2025.107199_bb0135","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.jns.2014.09.010","article-title":"The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review","volume":"346","author":"Porro","year":"2014","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.nbd.2025.107199_bb0140","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2024.113802","article-title":"RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA homeostasis","volume":"43","author":"Prusty","year":"2024","journal-title":"Cell Rep."},{"key":"10.1016\/j.nbd.2025.107199_bb0145","doi-asserted-by":"crossref","DOI":"10.1016\/j.expneurol.2024.115025","article-title":"Ighmbp2 mutations and disease pathology: defining differences that differentiate SMARD1 and CMT2S","volume":"383","author":"Ricardez Hernandez","year":"2025","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.nbd.2025.107199_bb0150","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1055\/s-2004-820994","article-title":"Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)","volume":"35","author":"Rudnik-Schoneborn","year":"2004","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.nbd.2025.107199_bb0155","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1038\/ki.2015.168","article-title":"Changes in skeletal muscle fiber types induced by chronic kidney disease","volume":"88","author":"Schiaffino","year":"2015","journal-title":"Kidney Int."},{"key":"10.1016\/j.nbd.2025.107199_bb0160","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1152\/physrev.00031.2010","article-title":"Fiber types in mammalian skeletal muscles","volume":"91","author":"Schiaffino","year":"2011","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.nbd.2025.107199_bb0165","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1212\/WNL.0000000000001220","article-title":"Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy","volume":"84","author":"Schottmann","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2025.107199_bb0170","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1038\/mt.2016.33","article-title":"Rescue of a mouse model of spinal muscular atrophy with respiratory distress type 1 by AAV9-IGHMBP2 is dose dependent","volume":"24","author":"Shababi","year":"2016","journal-title":"Mol. Ther."},{"key":"10.1016\/j.nbd.2025.107199_bb0175","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/j.bbrc.2019.10.032","article-title":"Development of a novel severe mouse model of spinal muscular atrophy with respiratory distress type 1: FVB-nmd","volume":"520","author":"Shababi","year":"2019","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.nbd.2025.107199_bb0180","doi-asserted-by":"crossref","DOI":"10.21769\/BioProtoc.4493","article-title":"A semi-quantitative scoring system for green histopathological evaluation of large animal models of acute lung injury","volume":"12","author":"Silva","year":"2022","journal-title":"Bio-Protoc."},{"key":"10.1016\/j.nbd.2025.107199_bb0185","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/2044-5040-4-21","article-title":"SMASH - semi-automatic muscle analysis using segmentation of histology: a MATLAB application","volume":"4","author":"Smith","year":"2014","journal-title":"Skelet. Muscle"},{"key":"10.1016\/j.nbd.2025.107199_bb0190","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1093\/hmg\/ddab317","article-title":"The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects","volume":"31","author":"Smith","year":"2022","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0195","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1038\/ejhg.2016.146","article-title":"Clinical exome sequencing: results from 2819 samples reflecting 1000 families","volume":"25","author":"Trujillano","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0200","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.164608","article-title":"ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activity","volume":"8","author":"Vadla","year":"2023","journal-title":"JCI Insight"},{"key":"10.1016\/j.nbd.2025.107199_bb0205","doi-asserted-by":"crossref","DOI":"10.1016\/j.bbadis.2024.167091","article-title":"The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association","volume":"1870","author":"Vadla","year":"2024","journal-title":"Biochim. Biophys. Acta Mol. basis Dis."},{"key":"10.1016\/j.nbd.2025.107199_bb0210","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1093\/hmg\/ddx434","article-title":"Selective vulnerability in neuronal populations in nmd\/SMARD1 mice","volume":"27","author":"Villalon","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nbd.2025.107199_bb0215","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1002\/ana.10182","article-title":"Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13","volume":"51","author":"Viollet","year":"2002","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.nbd.2025.107199_bb0220","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1016\/j.nmd.2015.07.017","article-title":"Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2","volume":"25","author":"Wagner","year":"2015","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.nbd.2025.107199_bb0225","doi-asserted-by":"crossref","first-page":"3093","DOI":"10.1016\/j.yexcr.2010.05.019","article-title":"Skeletal muscle: energy metabolism, fiber types, fatigue and adaptability","volume":"316","author":"Westerblad","year":"2010","journal-title":"Exp. Cell Res."}],"container-title":["Neurobiology of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996125004164?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996125004164?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T21:02:24Z","timestamp":1778792544000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0969996125004164"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":45,"alternative-id":["S0969996125004164"],"URL":"https:\/\/doi.org\/10.1016\/j.nbd.2025.107199","relation":{},"ISSN":["0969-9961"],"issn-type":[{"value":"0969-9961","type":"print"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nbd.2025.107199","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"107199"}}