{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T14:44:06Z","timestamp":1791384246995,"version":"4.3.3"},"reference-count":74,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T00:00:00Z","timestamp":1687824000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T00:00:00Z","timestamp":1687824000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1007\/s00401-023-02607-8","type":"journal-article","created":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T16:02:42Z","timestamp":1687881762000},"page":"477-498","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration"],"prefix":"10.1007","volume":"146","author":[{"given":"Tyler R.","family":"Fortuna","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukhleen","family":"Kour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anuradha Venkatakrishnan","family":"Chimata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anixa","family":"Mui\u00f1os-B\u00fchl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric N.","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlie H.","family":"Nelson IV","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Om","family":"Chauhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casey","family":"O\u2019Brien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhivyaa","family":"Rajasundaram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepa S.","family":"Rajan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brunhilde","family":"Wirth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6267-0179","authenticated-orcid":false,"given":"Udai Bhan","family":"Pandey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,6,27]]},"reference":[{"key":"2607_CR1","doi-asserted-by":"publisher","first-page":"1366","DOI":"10.1093\/hmg\/ddy047","volume":"27","author":"EN Anderson","year":"2018","unstructured":"Anderson EN, Gochenaur L, Singh A, Grant R, Patel K, Watkins S et al (2018) Traumatic injury induces stress granule formation and enhances motor dysfunctions in ALS\/FTD models. Hum Mol Genet 27:1366\u20131381. https:\/\/doi.org\/10.1093\/hmg\/ddy047","journal-title":"Hum Mol Genet"},{"key":"2607_CR2","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1002\/humu.10221","volume":"22","author":"D Anhuf","year":"2003","unstructured":"Anhuf D, Eggermann T, Rudnik-Schoneborn S, Zerres K (2003) Determination of SMN1 and SMN2 copy number using TaqMan technology. Hum Mutat 22:74\u201378. https:\/\/doi.org\/10.1002\/humu.10221","journal-title":"Hum Mutat"},{"key":"2607_CR3","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1101\/sqb.2006.71.001","volume":"71","author":"DJ Battle","year":"2006","unstructured":"Battle DJ, Kasim M, Yong J, Lotti F, Lau CK, Mouaikel J et al (2006) The SMN complex: an assembly machine for RNPs. Cold Spring Harb Symp Quant Biol 71:313\u2013320. https:\/\/doi.org\/10.1101\/sqb.2006.71.001","journal-title":"Cold Spring Harb Symp Quant Biol"},{"key":"2607_CR4","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/j.molcel.2006.05.036","volume":"23","author":"DJ Battle","year":"2006","unstructured":"Battle DJ, Lau CK, Wan L, Deng H, Lotti F, Dreyfuss G (2006) The Gemin5 protein of the SMN complex identifies snRNAs. Mol Cell 23:273\u2013279. https:\/\/doi.org\/10.1016\/j.molcel.2006.05.036","journal-title":"Mol Cell"},{"key":"2607_CR5","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1093\/hmg\/ddq508","volume":"20","author":"N Boulisfane","year":"2011","unstructured":"Boulisfane N, Choleza M, Rage F, Neel H, Soret J, Bordonne R (2011) Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient. Hum Mol Genet 20:641\u2013648. https:\/\/doi.org\/10.1093\/hmg\/ddq508","journal-title":"Hum Mol Genet"},{"key":"2607_CR6","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1038\/nrn2670","volume":"10","author":"AH Burghes","year":"2009","unstructured":"Burghes AH, Beattie CE (2009) Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci 10:597\u2013609. https:\/\/doi.org\/10.1038\/nrn2670","journal-title":"Nat Rev Neurosci"},{"key":"2607_CR7","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","volume":"28","author":"M Calucho","year":"2018","unstructured":"Calucho M, Bernal S, Alias L, March F, Vencesla A, Rodriguez-Alvarez FJ et al (2018) Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord 28:208\u2013215. https:\/\/doi.org\/10.1016\/j.nmd.2018.01.003","journal-title":"Neuromuscul Disord"},{"key":"2607_CR8","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1083\/jcb.147.4.715","volume":"147","author":"T Carvalho","year":"1999","unstructured":"Carvalho T, Almeida F, Calapez A, Lafarga M, Berciano MT, Carmo-Fonseca M (1999) The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body. J Cell Biol 147:715\u2013728. https:\/\/doi.org\/10.1083\/jcb.147.4.715","journal-title":"J Cell Biol"},{"key":"2607_CR9","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1016\/j.tig.2013.01.004","volume":"29","author":"A Castello","year":"2013","unstructured":"Castello A, Fischer B, Hentze MW, Preiss T (2013) RNA-binding proteins in Mendelian disease. Trends Genet 29:318\u2013327. https:\/\/doi.org\/10.1016\/j.tig.2013.01.004","journal-title":"Trends Genet"},{"key":"2607_CR10","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1038\/nature05954","volume":"448","author":"G Dietzl","year":"2007","unstructured":"Dietzl G, Chen D, Schnorrer F, Su KC, Barinova Y, Fellner M et al (2007) A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila. Nature 448:151\u2013156. https:\/\/doi.org\/10.1038\/nature05954","journal-title":"Nature"},{"key":"2607_CR11","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1086\/338627","volume":"70","author":"M Feldkotter","year":"2002","unstructured":"Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B (2002) Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70:358\u2013368. https:\/\/doi.org\/10.1086\/338627","journal-title":"Am J Hum Genet"},{"key":"2607_CR12","doi-asserted-by":"publisher","unstructured":"Francisco-Velilla R, Azman EB, Martinez-Salas E (2019) Impact of RNA-Protein Interaction Modes on Translation Control: The Versatile Multidomain Protein Gemin5. Bioessays 41:e1800241. doi: https:\/\/doi.org\/10.1002\/bies.201800241","DOI":"10.1002\/bies.201800241"},{"key":"2607_CR13","doi-asserted-by":"publisher","unstructured":"Gabanella F, Butchbach ME, Saieva L, Carissimi C, Burghes AH, Pellizzoni L (2007) Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS One 2:e921. doi: https:\/\/doi.org\/10.1371\/journal.pone.0000921","DOI":"10.1371\/journal.pone.0000921"},{"key":"2607_CR14","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1093\/hmg\/dds437","volume":"22","author":"L Garbes","year":"2013","unstructured":"Garbes L, Heesen L, Holker I, Bauer T, Schreml J, Zimmermann K et al (2013) VPA response in SMA is suppressed by the fatty acid translocase CD36. Hum Mol Genet 22:398\u2013407. https:\/\/doi.org\/10.1093\/hmg\/dds437","journal-title":"Hum Mol Genet"},{"key":"2607_CR15","doi-asserted-by":"publisher","first-page":"8295","DOI":"10.1038\/s41598-017-07603-z","volume":"7","author":"NK Genabai","year":"2017","unstructured":"Genabai NK, Kannan A, Ahmad S, Jiang X, Bhatia K, Gangwani L (2017) Deregulation of ZPR1 causes respiratory failure in spinal muscular atrophy. Sci Rep 7:8295. https:\/\/doi.org\/10.1038\/s41598-017-07603-z","journal-title":"Sci Rep"},{"key":"2607_CR16","doi-asserted-by":"publisher","first-page":"3380","DOI":"10.1038\/s41467-022-31098-6","volume":"13","author":"AM Gleixner","year":"2022","unstructured":"Gleixner AM, Verdone BM, Otte CG, Anderson EN, Ramesh N, Shapiro OR et al (2022) NUP62 localizes to ALS\/FTLD pathological assemblies and contributes to TDP-43 insolubility. Nat Commun 13:3380. https:\/\/doi.org\/10.1038\/s41467-022-31098-6","journal-title":"Nat Commun"},{"key":"2607_CR17","doi-asserted-by":"publisher","first-page":"5631","DOI":"10.1074\/jbc.M109448200","volume":"277","author":"AK Gubitz","year":"2002","unstructured":"Gubitz AK, Mourelatos Z, Abel L, Rappsilber J, Mann M, Dreyfuss G (2002) Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins. J Biol Chem 277:5631\u20135636. https:\/\/doi.org\/10.1074\/jbc.M109448200","journal-title":"J Biol Chem"},{"key":"2607_CR18","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1038\/s41467-017-00911-y","volume":"8","author":"W Guo","year":"2017","unstructured":"Guo W, Naujock M, Fumagalli L, Vandoorne T, Baatsen P, Boon R et al (2017) HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients. Nat Commun 8:861. https:\/\/doi.org\/10.1038\/s41467-017-00911-y","journal-title":"Nat Commun"},{"key":"2607_CR19","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1186\/1471-2121-8-28","volume":"8","author":"T le Hao","year":"2007","unstructured":"le Hao T, Fuller HR, le Lam T, Le TT, Burghes AH, Morris GE (2007) Absence of gemin5 from SMN complexes in nuclear Cajal bodies. BMC Cell Biol 8:28. https:\/\/doi.org\/10.1186\/1471-2121-8-28","journal-title":"BMC Cell Biol"},{"key":"2607_CR20","doi-asserted-by":"publisher","first-page":"2089","DOI":"10.1007\/s00018-015-2084-y","volume":"73","author":"L Heesen","year":"2016","unstructured":"Heesen L, Peitz M, Torres-Benito L, Holker I, Hupperich K, Dobrindt K et al (2016) Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals. Cell Mol Life Sci 73:2089\u20132104. https:\/\/doi.org\/10.1007\/s00018-015-2084-y","journal-title":"Cell Mol Life Sci"},{"key":"2607_CR21","doi-asserted-by":"publisher","first-page":"117","DOI":"10.3389\/fcell.2020.00117","volume":"8","author":"M Irwin","year":"2020","unstructured":"Irwin M, Tare M, Singh A, Puli OR, Gogia N, Riccetti M et al (2020) A Positive Feedback Loop of Hippo- and c-Jun-Amino-Terminal Kinase Signaling Pathways Regulates Amyloid-Beta-Mediated Neurodegeneration. Front Cell Dev Biol 8:117. https:\/\/doi.org\/10.3389\/fcell.2020.00117","journal-title":"Front Cell Dev Biol"},{"key":"2607_CR22","doi-asserted-by":"publisher","first-page":"10126","DOI":"10.1073\/pnas.152318699","volume":"99","author":"S Jablonka","year":"2002","unstructured":"Jablonka S, Holtmann B, Meister G, Bandilla M, Rossoll W, Fischer U et al (2002) Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death. Proc Natl Acad Sci U S A 99:10126\u201310131. https:\/\/doi.org\/10.1073\/pnas.152318699","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2607_CR23","doi-asserted-by":"publisher","first-page":"2391","DOI":"10.1101\/gad.291377.116","volume":"30","author":"W Jin","year":"2016","unstructured":"Jin W, Wang Y, Liu CP, Yang N, Jin M, Cong Y et al (2016) Structural basis for snRNA recognition by the double-WD40 repeat domain of Gemin5. Genes Dev 30:2391\u20132403. https:\/\/doi.org\/10.1101\/gad.291377.116","journal-title":"Genes Dev"},{"key":"2607_CR24","doi-asserted-by":"publisher","first-page":"8326","DOI":"10.1093\/nar\/gky641","volume":"46","author":"A Kannan","year":"2018","unstructured":"Kannan A, Bhatia K, Branzei D, Gangwani L (2018) Combined deficiency of Senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy. Nucleic Acids Res 46:8326\u20138346. https:\/\/doi.org\/10.1093\/nar\/gky641","journal-title":"Nucleic Acids Res"},{"key":"2607_CR25","doi-asserted-by":"publisher","first-page":"3072","DOI":"10.1093\/brain\/awab464","volume":"145","author":"A Kannan","year":"2022","unstructured":"Kannan A, Cuartas J, Gangwani P, Branzei D, Gangwani L (2022) Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4. Brain 145:3072\u20133094. https:\/\/doi.org\/10.1093\/brain\/awab464","journal-title":"Brain"},{"key":"2607_CR26","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1093\/brain\/awz373","volume":"143","author":"A Kannan","year":"2020","unstructured":"Kannan A, Jiang X, He L, Ahmad S, Gangwani L (2020) ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy. Brain 143:69\u201393. https:\/\/doi.org\/10.1093\/brain\/awz373","journal-title":"Brain"},{"key":"2607_CR27","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1007\/s00439-017-1830-7","volume":"136","author":"K Kapeli","year":"2017","unstructured":"Kapeli K, Martinez FJ, Yeo GW (2017) Genetic mutations in RNA-binding proteins and their roles in ALS. Hum Genet 136:1193\u20131214. https:\/\/doi.org\/10.1007\/s00439-017-1830-7","journal-title":"Hum Genet"},{"key":"2607_CR28","doi-asserted-by":"publisher","first-page":"2558","DOI":"10.1038\/s41467-021-22627-w","volume":"12","author":"S Kour","year":"2021","unstructured":"Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y et al (2021) Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun 12:2558. https:\/\/doi.org\/10.1038\/s41467-021-22627-w","journal-title":"Nat Commun"},{"key":"2607_CR29","doi-asserted-by":"publisher","first-page":"3600","DOI":"10.1002\/1873-3468.12853","volume":"591","author":"M Lanfranco","year":"2017","unstructured":"Lanfranco M, Cacciottolo R, Borg RM, Vassallo N, Juge F, Bordonne R et al (2017) Novel interactors of the Drosophila Survival Motor Neuron (SMN) Complex suggest its full conservation. FEBS Lett 591:3600\u20133614. https:\/\/doi.org\/10.1002\/1873-3468.12853","journal-title":"FEBS Lett"},{"key":"2607_CR30","doi-asserted-by":"publisher","first-page":"41","DOI":"10.3389\/fmolb.2017.00041","volume":"4","author":"M Lanfranco","year":"2017","unstructured":"Lanfranco M, Vassallo N, Cauchi RJ (2017) Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction. Front Mol Biosci 4:41. https:\/\/doi.org\/10.3389\/fmolb.2017.00041","journal-title":"Front Mol Biosci"},{"key":"2607_CR31","doi-asserted-by":"publisher","first-page":"2510","DOI":"10.1093\/hmg\/ddr150","volume":"20","author":"NA Lanson Jr","year":"2011","unstructured":"Lanson NA Jr, Maltare A, King H, Smith R, Kim JH, Taylor JP et al (2011) A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43. Hum Mol Genet 20:2510\u20132523. https:\/\/doi.org\/10.1093\/hmg\/ddr150","journal-title":"Hum Mol Genet"},{"key":"2607_CR32","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"S Lefebvre","year":"1995","unstructured":"Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155\u2013165. https:\/\/doi.org\/10.1016\/0092-8674(95)90460-3","journal-title":"Cell"},{"key":"2607_CR33","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1016\/s0092-8674(00)80367-0","volume":"90","author":"Q Liu","year":"1997","unstructured":"Liu Q, Fischer U, Wang F, Dreyfuss G (1997) The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell 90:1013\u20131021. https:\/\/doi.org\/10.1016\/s0092-8674(00)80367-0","journal-title":"Cell"},{"key":"2607_CR34","doi-asserted-by":"publisher","unstructured":"Mahmoudi S, Henriksson S, Weibrecht I, Smith S, Soderberg O, Stromblad S, Wiman KG, Farnebo M (2010) WRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodies. PLoS Biol 8:e1000521. doi: https:\/\/doi.org\/10.1371\/journal.pbio.1000521","DOI":"10.1371\/journal.pbio.1000521"},{"key":"2607_CR35","doi-asserted-by":"publisher","unstructured":"Martinez-Salas E, Embarc-Buh A, Francisco-Velilla R (2020) Emerging Roles of Gemin5: From snRNPs Assembly to Translation Control. Int J Mol Sci 21. doi: https:\/\/doi.org\/10.3390\/ijms21113868","DOI":"10.3390\/ijms21113868"},{"key":"2607_CR36","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1016\/j.devcel.2009.10.017","volume":"17","author":"AG Matera","year":"2009","unstructured":"Matera AG, Izaguire-Sierra M, Praveen K, Rajendra TK (2009) Nuclear bodies: random aggregates of sticky proteins or crucibles of macromolecular assembly? Dev Cell 17:639\u2013647. https:\/\/doi.org\/10.1016\/j.devcel.2009.10.017","journal-title":"Dev Cell"},{"key":"2607_CR37","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1038\/s41582-020-00413-4","volume":"16","author":"E Mercuri","year":"2020","unstructured":"Mercuri E, Pera MC, Scoto M, Finkel R, Muntoni F (2020) Spinal muscular atrophy - insights and challenges in the treatment era. Nat Rev Neurol 16:706\u2013715. https:\/\/doi.org\/10.1038\/s41582-020-00413-4","journal-title":"Nat Rev Neurol"},{"key":"2607_CR38","doi-asserted-by":"publisher","first-page":"2108","DOI":"10.1016\/j.bbamcr.2008.07.016","volume":"1783","author":"GE Morris","year":"2008","unstructured":"Morris GE (2008) The Cajal body. Biochim Biophys Acta 1783:2108\u20132115. https:\/\/doi.org\/10.1016\/j.bbamcr.2008.07.016","journal-title":"Biochim Biophys Acta"},{"key":"2607_CR39","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1101\/gad.5.4.583","volume":"5","author":"K Moses","year":"1991","unstructured":"Moses K, Rubin GM (1991) Glass encodes a site-specific DNA-binding protein that is regulated in response to positional signals in the developing Drosophila eye. Genes Dev 5:583\u2013593. https:\/\/doi.org\/10.1101\/gad.5.4.583","journal-title":"Genes Dev"},{"key":"2607_CR40","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1038\/s42003-020-01251-2","volume":"3","author":"R Nakamura","year":"2020","unstructured":"Nakamura R, Misawa K, Tohnai G, Nakatochi M, Furuhashi S, Atsuta N et al (2020) A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis. Commun Biol 3:526. https:\/\/doi.org\/10.1038\/s42003-020-01251-2","journal-title":"Commun Biol"},{"key":"2607_CR41","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1016\/j.neuron.2019.03.014","volume":"102","author":"JK Nussbacher","year":"2019","unstructured":"Nussbacher JK, Tabet R, Yeo GW, Lagier-Tourenne C (2019) Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions. Neuron 102:294\u2013320. https:\/\/doi.org\/10.1016\/j.neuron.2019.03.014","journal-title":"Neuron"},{"key":"2607_CR42","doi-asserted-by":"publisher","first-page":"5825","DOI":"10.1074\/jbc.M608528200","volume":"282","author":"S Otter","year":"2007","unstructured":"Otter S, Grimmler M, Neuenkirchen N, Chari A, Sickmann A, Fischer U (2007) A comprehensive interaction map of the human survival of motor neuron (SMN) complex. J Biol Chem 282:5825\u20135833. https:\/\/doi.org\/10.1074\/jbc.M608528200","journal-title":"J Biol Chem"},{"key":"2607_CR43","doi-asserted-by":"publisher","unstructured":"Panopoulos AD, Ruiz S, Yi F, Herrerias A, Batchelder EM, Izpisua Belmonte JC (2011) Rapid and highly efficient generation of induced pluripotent stem cells from human umbilical vein endothelial cells. PLoS One 6:e19743. doi: https:\/\/doi.org\/10.1371\/journal.pone.0019743","DOI":"10.1371\/journal.pone.0019743"},{"key":"2607_CR44","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1089\/gtmb.2008.0084","volume":"13","author":"N Passon","year":"2009","unstructured":"Passon N, Pozzo F, Molinis C, Bregant E, Gellera C, Damante G et al (2009) A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification. Genet Test Mol Biomarkers 13:37\u201342. https:\/\/doi.org\/10.1089\/gtmb.2008.0084","journal-title":"Genet Test Mol Biomarkers"},{"key":"2607_CR45","doi-asserted-by":"publisher","first-page":"528","DOI":"10.3390\/biom5020528","volume":"5","author":"D Pineiro","year":"2015","unstructured":"Pineiro D, Fernandez-Chamorro J, Francisco-Velilla R, Martinez-Salas E (2015) Gemin5: A Multitasking RNA-Binding Protein Involved in Translation Control. Biomolecules 5:528\u2013544. https:\/\/doi.org\/10.3390\/biom5020528","journal-title":"Biomolecules"},{"key":"2607_CR46","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1016\/j.ajhg.2009.08.002","volume":"85","author":"TW Prior","year":"2009","unstructured":"Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ et al (2009) A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet 85:408\u2013413. https:\/\/doi.org\/10.1016\/j.ajhg.2009.08.002","journal-title":"Am J Hum Genet"},{"key":"2607_CR47","doi-asserted-by":"publisher","first-page":"17221","DOI":"10.1038\/s41598-020-73891-7","volume":"10","author":"A Raj","year":"2020","unstructured":"Raj A, Chimata AV, Singh A (2020) Motif 1 Binding Protein suppresses wingless to promote eye fate in Drosophila. Sci Rep 10:17221. https:\/\/doi.org\/10.1038\/s41598-020-73891-7","journal-title":"Sci Rep"},{"key":"2607_CR48","doi-asserted-by":"publisher","unstructured":"Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB (2022) Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Front Cell Dev Biol 10:783762. doi: https:\/\/doi.org\/10.3389\/fcell.2022.783762","DOI":"10.3389\/fcell.2022.783762"},{"key":"2607_CR49","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1186\/s40478-020-01060-y","volume":"8","author":"N Ramesh","year":"2020","unstructured":"Ramesh N, Daley EL, Gleixner AM, Mann JR, Kour S, Mawrie D et al (2020) RNA dependent suppression of C9orf72 ALS\/FTD associated neurodegeneration by Matrin-3. Acta Neuropathol Commun 8:177. https:\/\/doi.org\/10.1186\/s40478-020-01060-y","journal-title":"Acta Neuropathol Commun"},{"key":"2607_CR50","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1111\/cge.14066","volume":"100","author":"K Saida","year":"2021","unstructured":"Saida K, Tamaoki J, Sasaki M, Haniffa M, Koshimizu E, Sengoku T et al (2021) Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy. Clin Genet 100:722\u2013730. https:\/\/doi.org\/10.1111\/cge.14066","journal-title":"Clin Genet"},{"key":"2607_CR51","doi-asserted-by":"publisher","first-page":"55","DOI":"10.3389\/fmolb.2020.00055","volume":"7","author":"D Sapaly","year":"2020","unstructured":"Sapaly D, Delers P, Coridon J, Salman B, Letourneur F, Dumont F et al (2020) The Small-Molecule Flunarizine in Spinal Muscular Atrophy Patient Fibroblasts Impacts on the Gemin Components of the SMN Complex and TDP43, an RNA-Binding Protein Relevant to Motor Neuron Diseases. Front Mol Biosci 7:55. https:\/\/doi.org\/10.3389\/fmolb.2020.00055","journal-title":"Front Mol Biosci"},{"key":"2607_CR52","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1083\/jcb.201605049","volume":"213","author":"IA Sawyer","year":"2016","unstructured":"Sawyer IA, Dundr M (2016) Nuclear bodies: Built to boost. J Cell Biol 213:509\u2013511. https:\/\/doi.org\/10.1083\/jcb.201605049","journal-title":"J Cell Biol"},{"key":"2607_CR53","doi-asserted-by":"publisher","first-page":"E5593","DOI":"10.1073\/pnas.1419161111","volume":"111","author":"S Shen","year":"2014","unstructured":"Shen S, Park JW, Lu ZX, Lin L, Henry MD, Wu YN et al (2014) rMATS: robust and flexible detection of differential alternative splicing from replicate RNA-Seq data. Proc Natl Acad Sci U S A 111:E5593\u2013E5601. https:\/\/doi.org\/10.1073\/pnas.1419161111","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2607_CR54","doi-asserted-by":"publisher","first-page":"17372","DOI":"10.1073\/pnas.0508947102","volume":"102","author":"KB Shpargel","year":"2005","unstructured":"Shpargel KB, Matera AG (2005) Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins. Proc Natl Acad Sci U S A 102:17372\u201317377. https:\/\/doi.org\/10.1073\/pnas.0508947102","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2607_CR55","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1534\/genetics.105.044180","volume":"171","author":"A Singh","year":"2005","unstructured":"Singh A, Chan J, Chern JJ, Choi KW (2005) Genetic interaction of Lobe with its modifiers in dorsoventral patterning and growth of the Drosophila eye. Genetics 171:169\u2013183. https:\/\/doi.org\/10.1534\/genetics.105.044180","journal-title":"Genetics"},{"key":"2607_CR56","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1038\/gt.2017.34","volume":"24","author":"NN Singh","year":"2017","unstructured":"Singh NN, Howell MD, Androphy EJ, Singh RN (2017) How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy. Gene Ther 24:520\u2013526. https:\/\/doi.org\/10.1038\/gt.2017.34","journal-title":"Gene Ther"},{"key":"2607_CR57","doi-asserted-by":"publisher","first-page":"8144","DOI":"10.1093\/nar\/gkt609","volume":"41","author":"NN Singh","year":"2013","unstructured":"Singh NN, Lawler MN, Ottesen EW, Upreti D, Kaczynski JR, Singh RN (2013) An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy. Nucleic Acids Res 41:8144\u20138165. https:\/\/doi.org\/10.1093\/nar\/gkt609","journal-title":"Nucleic Acids Res"},{"key":"2607_CR58","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1080\/14728222.2020.1783241","volume":"24","author":"RN Singh","year":"2020","unstructured":"Singh RN, Seo J, Singh NN (2020) RNA in spinal muscular atrophy: therapeutic implications of targeting. Expert Opin Ther Targets 24:731\u2013743. https:\/\/doi.org\/10.1080\/14728222.2020.1783241","journal-title":"Expert Opin Ther Targets"},{"key":"2607_CR59","doi-asserted-by":"publisher","first-page":"4407","DOI":"10.1242\/jcs.114.24.4407","volume":"114","author":"JE Sleeman","year":"2001","unstructured":"Sleeman JE, Ajuh P, Lamond AI (2001) snRNP protein expression enhances the formation of Cajal bodies containing p80-coilin and SMN. J Cell Sci 114:4407\u20134419","journal-title":"J Cell Sci"},{"key":"2607_CR60","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1007\/s00418-011-0861-8","volume":"136","author":"DJ Smolinski","year":"2011","unstructured":"Smolinski DJ, Wrobel B, Noble A, Zienkiewicz A, Gorska-Brylass A (2011) Periodic expression of Sm proteins parallels formation of nuclear Cajal bodies and cytoplasmic snRNP-rich bodies. Histochem Cell Biol 136:527\u2013541. https:\/\/doi.org\/10.1007\/s00418-011-0861-8","journal-title":"Histochem Cell Biol"},{"key":"2607_CR61","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1002\/mgg3.141","volume":"3","author":"DL Stabley","year":"2015","unstructured":"Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO et al (2015) SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Mol Genet Genomic Med 3:248\u2013257. https:\/\/doi.org\/10.1002\/mgg3.141","journal-title":"Mol Genet Genomic Med"},{"key":"2607_CR62","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1007\/s00418-012-0921-8","volume":"137","author":"O Tapia","year":"2012","unstructured":"Tapia O, Bengoechea R, Palanca A, Arteaga R, Val-Bernal JF, Tizzano EF et al (2012) Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy. Histochem Cell Biol 137:657\u2013667. https:\/\/doi.org\/10.1007\/s00418-012-0921-8","journal-title":"Histochem Cell Biol"},{"key":"2607_CR63","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1083\/jcb.200104083","volume":"154","author":"KE Tucker","year":"2001","unstructured":"Tucker KE, Berciano MT, Jacobs EY, LePage DF, Shpargel KB, Rossire JJ et al (2001) Residual Cajal bodies in coilin knockout mice fail to recruit Sm snRNPs and SMN, the spinal muscular atrophy gene product. J Cell Biol 154:293\u2013307. https:\/\/doi.org\/10.1083\/jcb.200104083","journal-title":"J Cell Biol"},{"key":"2607_CR64","doi-asserted-by":"publisher","unstructured":"Waegaert R, Dirrig-Grosch S, Parisot F, Keime C, Henriques A, Loeffler JP, Rene F (2020) Longitudinal transcriptomic analysis of altered pathways in a CHMP2B(intron5)-based model of ALS-FTD. Neurobiol Dis 136:104710. doi: https:\/\/doi.org\/10.1016\/j.nbd.2019.104710","DOI":"10.1016\/j.nbd.2019.104710"},{"key":"2607_CR65","doi-asserted-by":"publisher","first-page":"10966","DOI":"10.1038\/ncomms10966","volume":"7","author":"Q Wang","year":"2016","unstructured":"Wang Q, Sawyer IA, Sung MH, Sturgill D, Shevtsov SP, Pegoraro G et al (2016) Cajal bodies are linked to genome conformation. Nat Commun 7:10966. https:\/\/doi.org\/10.1038\/ncomms10966","journal-title":"Nat Commun"},{"key":"2607_CR66","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1016\/j.omtn.2020.12.027","volume":"23","author":"AM Winkelsas","year":"2021","unstructured":"Winkelsas AM, Grunseich C, Harmison GG, Chwalenia K, Rinaldi C, Hammond SM et al (2021) Targeting the 5\u2019 untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy. Mol Ther Nucleic Acids 23:731\u2013742. https:\/\/doi.org\/10.1016\/j.omtn.2020.12.027","journal-title":"Mol Ther Nucleic Acids"},{"key":"2607_CR67","doi-asserted-by":"publisher","first-page":"2320","DOI":"10.1101\/gad.342005","volume":"19","author":"C Winkler","year":"2005","unstructured":"Winkler C, Eggert C, Gradl D, Meister G, Giegerich M, Wedlich D et al (2005) Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy. Genes Dev 19:2320\u20132330. https:\/\/doi.org\/10.1101\/gad.342005","journal-title":"Genes Dev"},{"key":"2607_CR68","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1016\/j.tins.2020.11.009","volume":"44","author":"B Wirth","year":"2021","unstructured":"Wirth B (2021) Spinal Muscular Atrophy: In the Challenge Lies a Solution. Trends Neurosci 44:306\u2013322. https:\/\/doi.org\/10.1016\/j.tins.2020.11.009","journal-title":"Trends Neurosci"},{"key":"2607_CR69","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1007\/s00439-006-0156-7","volume":"119","author":"B Wirth","year":"2006","unstructured":"Wirth B, Brichta L, Schrank B, Lochmuller H, Blick S, Baasner A et al (2006) Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 119:422\u2013428. https:\/\/doi.org\/10.1007\/s00439-006-0156-7","journal-title":"Hum Genet"},{"key":"2607_CR70","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1146\/annurev-genom-102319-103602","volume":"21","author":"B Wirth","year":"2020","unstructured":"Wirth B, Karakaya M, Kye MJ, Mendoza-Ferreira N (2020) Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next. Annu Rev Genomics Hum Genet 21:231\u2013261. https:\/\/doi.org\/10.1146\/annurev-genom-102319-103602","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"2607_CR71","doi-asserted-by":"publisher","first-page":"15662","DOI":"10.1074\/jbc.M115.646257","volume":"290","author":"E Workman","year":"2015","unstructured":"Workman E, Kalda C, Patel A, Battle DJ (2015) Gemin5 Binds to the Survival Motor Neuron mRNA to Regulate SMN Expression. J Biol Chem 290:15662\u201315669. https:\/\/doi.org\/10.1074\/jbc.M115.646257","journal-title":"J Biol Chem"},{"key":"2607_CR72","doi-asserted-by":"publisher","first-page":"2376","DOI":"10.1101\/gad.288340.116","volume":"30","author":"C Xu","year":"2016","unstructured":"Xu C, Ishikawa H, Izumikawa K, Li L, He H, Nobe Y et al (2016) Structural insights into Gemin5-guided selection of pre-snRNAs for snRNP assembly. Genes Dev 30:2376\u20132390. https:\/\/doi.org\/10.1101\/gad.288340.116","journal-title":"Genes Dev"},{"key":"2607_CR73","doi-asserted-by":"publisher","first-page":"2747","DOI":"10.1128\/MCB.24.7.2747-2756.2004","volume":"24","author":"J Yong","year":"2004","unstructured":"Yong J, Golembe TJ, Battle DJ, Pellizzoni L, Dreyfuss G (2004) snRNAs contain specific SMN-binding domains that are essential for snRNP assembly. Mol Cell Biol 24:2747\u20132756. https:\/\/doi.org\/10.1128\/MCB.24.7.2747-2756.2004","journal-title":"Mol Cell Biol"},{"key":"2607_CR74","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1016\/j.molcel.2010.03.014","volume":"38","author":"J Yong","year":"2010","unstructured":"Yong J, Kasim M, Bachorik JL, Wan L, Dreyfuss G (2010) Gemin5 delivers snRNA precursors to the SMN complex for snRNP biogenesis. Mol Cell 38:551\u2013562. https:\/\/doi.org\/10.1016\/j.molcel.2010.03.014","journal-title":"Mol Cell"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-023-02607-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00401-023-02607-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00401-023-02607-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T16:14:37Z","timestamp":1691597677000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00401-023-02607-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,27]]},"references-count":74,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["2607"],"URL":"https:\/\/doi.org\/10.1007\/s00401-023-02607-8","relation":{},"ISSN":["0001-6322","1432-0533"],"issn-type":[{"value":"0001-6322","type":"print"},{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,27]]},"assertion":[{"value":"17 May 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 June 2023","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 June 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 June 2023","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors report no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}