An SMN-dependent U12 splicing event essential for motor circuit function.Lotti F., Imlach W.L., Saieva L., Beck E.S., Hao le T., Li D.K., Jiao W., Mentis G.Z., Beattie C.E.[...], Pellizzoni L.View abstractCited forFUNCTION, DISRUPTION PHENOTYPECategoriesFunction, Phenotypes & VariantsSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCCell 151:440-454 (2012)Cited in71Mapped to59
HuD and the Survival Motor Neuron Protein Interact in Motoneurons and Are Essential for Motoneuron Development, Function, and mRNA Regulation.Hao le T., Duy P.Q., An M., Talbot J., Iyer C.C., Wolman M., Beattie C.E.View abstractCited forFUNCTION, INTERACTION WITH ELAVL4, DISRUPTION PHENOTYPECategoriesFunction, Interaction, Phenotypes & VariantsSourceUniProtKB reviewed (Swiss-Prot)PubMedEurope PMCJ. Neurosci. 37:11559-11571 (2017)Cited in41Mapped to7
A novel zebrafish model for intermediate type spinal muscular atrophy demonstrates importance of Smn for maintenance of mature motor neurons.Tay S.H., Ellieyana E.N., Le Y., Sarusie M.V., Grimm C., Ohmer J., Mathuru A.S., Fischer U., Winkler C.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCHum Mol Genet 30:2488-2502 (2021)Mapped to1
Guided genetic screen to identify genes essential in the regeneration of hair cells and other tissues.Pei W., Xu L., Huang S.C., Pettie K., Idol J., Rissone A., Jimenez E., Sinclair J.W., Slevin C.[...], Burgess S.M.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCNPJ Regen Med 3:11-11 (2018)Cited in10Mapped to23
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy.Boyd P.J., Tu W.Y., Shorrock H.K., Groen E.J.N., Carter R.N., Powis R.A., Thomson S.R., Thomson D., Graham L.C.[...], Gillingwater T.H.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCPLoS Genet 13:e1006744-e1006744 (2017)Cited in1Mapped to13
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.Riessland M., Kaczmarek A., Schneider S., Swoboda K.J., Lohr H., Bradler C., Grysko V., Dimitriadi M., Hosseinibarkooie S.[...], Wirth B.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCAm J Hum Genet 100:297-315 (2017)Mapped to18
Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy.Powis R.A., Karyka E., Boyd P., Come J., Jones R.A., Zheng Y., Szunyogova E., Groen E.J., Hunter G.[...], Gillingwater T.H.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCJCI Insight 1:e87908-e87908 (2016)Mapped to10
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.Hosseinibarkooie S., Peters M., Torres-Benito L., Rastetter R.H., Hupperich K., Hoffmann A., Mendoza-Ferreira N., Kaczmarek A., Janzen E.[...], Wirth B.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCAm J Hum Genet 99:647-665 (2016)Mapped to25
alpha-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth.Li H., Custer S.K., Gilson T., Hao l.e. T., Beattie C.E., Androphy E.J.View abstractCategoriesFunction, Phenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCHum Mol Genet 24:7295-7307 (2015)Mapped to1
Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse.McGovern V.L., Massoni-Laporte A., Wang X., Le T.T., Le H.T., Beattie C.E., Rich M.M., Burghes A.H.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCPLoS One 10:e0132364-e0132364 (2015)Mapped to32
Effective heritable gene knockdown in zebrafish using synthetic microRNAs.Giacomotto J., Rinkwitz S., Becker T.S.View abstractCategoriesFunction, Phenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCNat Commun 6:7378-7378 (2015)Mapped to1
Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy.Miller N., Feng Z., Edens B.M., Yang B., Shi H., Sze C.C., Hong B.T., Su S.C., Cantu J.A.[...], Ma Y.C.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCJ Neurosci 35:6038-6050 (2015)Mapped to39
Motoneuron development influences dorsal root ganglia survival and Schwann cell development in a vertebrate model of spinal muscular atrophy.Hao l.e. T., Duy P.Q., Jontes J.D., Beattie C.E.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCHum Mol Genet 24:346-360 (2015)Mapped to1
Yeast Augmented Network Analysis (YANA): a new systems approach to identify therapeutic targets for human genetic diseases.Wiley D.J., Juan I., Le H., Cai X., Baumbach L., Beattie C., D'Urso G.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCF1000Res 3:121-121 (2014)Mapped to1
Dysregulation of ubiquitin homeostasis and beta-catenin signaling promote spinal muscular atrophy.Wishart T.M., Mutsaers C.A., Riessland M., Reimer M.M., Hunter G., Hannam M.L., Eaton S.L., Fuller H.R., Roche S.L.[...], Gillingwater T.H.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCJ Clin Invest 124:1821-1834 (2014)Cited in1Mapped to36
Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons.Lyon A.N., Pineda R.H., Hao l.e. T., Kudryashova E., Kudryashov D.S., Beattie C.E.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCHum Mol Genet 23:1990-2004 (2014)Cited in1Mapped to9
SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy.See K., Yadav P., Giegerich M., Cheong P.S., Graf M., Vyas H., Lee S.G., Mathavan S., Fischer U.[...], Winkler C.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCHum Mol Genet 23:1754-1770 (2014)Cited in16Mapped to38
Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy.Sleigh J.N., Barreiro-Iglesias A., Oliver P.L., Biba A., Becker T., Davies K.E., Becker C.G., Talbot K.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCHum. Mol. Genet. 23:855-869 (2014)Cited in2Mapped to12
Temporal requirement for SMN in motoneuron development.Hao l.e. T., Duy P.Q., Jontes J.D., Wolman M., Granato M., Beattie C.E.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCHum Mol Genet 22:2612-2625 (2013)Mapped to1
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans.Van Hoecke A., Schoonaert L., Lemmens R., Timmers M., Staats K.A., Laird A.S., Peeters E., Philips T., Goris A.[...], Robberecht W.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCNat Med 18:1418-1422 (2012)Mapped to20
Survival motor neuron affects plastin 3 protein levels leading to motor defects.Hao l.e. T., Wolman M., Granato M., Beattie C.E.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCJ Neurosci 32:5074-5084 (2012)Cited in1Mapped to5
Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits.Akten B., Kye M.J., Hao l.e. T., Wertz M.H., Singh S., Nie D., Huang J., Merianda T.T., Twiss J.L.[...], Sahin M.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCProc Natl Acad Sci U S A 108:10337-10342 (2011)Mapped to29
Dynamic control of Cajal body number during zebrafish embryogenesis.Strzelecka M., Oates A.C., Neugebauer K.M.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCNucleus 1:96-108 (2010)Cited in1Mapped to1
Progranulin modulates zebrafish motoneuron development in vivo and rescues truncation defects associated with knockdown of Survival motor neuron 1.Chitramuthu B.P., Baranowski D.C., Kay D.G., Bateman A., Bennett H.P.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCMol Neurodegener 5:41-41 (2010)Cited in1Mapped to15
Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects.Boon K.L., Xiao S., McWhorter M.L., Donn T., Wolf-Saxon E., Bohnsack M.T., Moens C.B., Beattie C.E.View abstractCategoriesPhenotypes & VariantsSourceZFIN: ZDB-GENE-990715-16PubMedEurope PMCHum Mol Genet 18:3615-3625 (2009)Mapped to1