Publications

PubMed link to Sue’s Bibliography.

Kapur M, Molumby MJ, Guzman C, Heinz S, Ackerman SL. 2024. Cell-type-specific expression of tRNAs in the brain regulates cellular homeostasis. Neuron. 10.1016/j.neuron.

Griffin EN, Jucius T, Sim SE, Harris BS, Heinz S, Ackerman SL. 2024. RREB1 regulates neuronal proteostasis and the microtubule network. Sci Adv. 12;10(2):eadh3929.

Liu Z, Wang J, Shi Y, Yee BA, Terrey M, Zhang Q, Lee JC, Lin KI, Wang AH, Ackerman SL, Yeo GW, Cui H, Yang XL. 2023. Seryl-tRNA synthetase promotes translational readthrough by mRNA binding and involvement of the selenocysteine incorporation machinery. Nucleic Acids Res. 51(19):10768-10781.

Boyé K, Geraldo LH, Furtado J, Pibouin-Fragner L, Poulet M, Kim D, Nelson B, Xu Y, Jacob L, Maissa N, Agalliu D, Claesson-Welsh L, Ackerman SL, Eichmann A. 2022. Endothelial Unc5B controls blood-brain barrier integrity. Nat Commun. 4;13(1):1169.

Lai LB, Lai SM, Szymanski ES, Kapur M, Choi EK, Al-Hashimi HM, Ackerman SL, Gopalan V. 2022. Structural basis for impaired 5′ processing of a mutant tRNA associated with defects in neuronal homeostasis. PNAS 119(10), e2119529119.

Monaghan CE, Adamson SI, Kapur M, Chuang JH, Ackerman SL. 2021. The Clp1 R140H mutation alters tRNA metabolism and mRNA 3′ processing in mouse models of pontocerebellar hypoplasia. Proc Natl Acad Sci U S A. 18(39):e2110730118.

Terrey M, Adamson SI, Chuang JH, Ackerman SL. 2021. Defects in translation-dependent quality control pathways lead to convergent molecular and neurodevelopmental pathology. eLife 66904.

Cui H, Kapur M, Diedrich JK, Iii JRY, Ackerman SL, Schimmel P. 2021. Regulation of ex-translational activities is the primary function of the multi-tRNA synthetase complex. Nucleic Acids Res. 49(7):3603–3616.

Terry M, Adamson SI, Gibson A, Deng T, Ishimura R, Chuang J, Ackerman SL. 2020. GTPBP1 resolves paused ribosomes to maintain neuronal homeostasis. eLife 62731.

Kapur M, Ganguly A, Nagy G, Adamson SI, Chuang JH, Frankel WN, Ackerman SL. 2020. Expression of the neuronal tRNA n-Tr20 regulates synaptic transmission and seizure susceptibility. Neuron 108, 1–16.

Vo MN, Terrey M, Lee JW, Roy B, Moresco JJ, Sun L, Fu H, Liu Q, Weber TG, Yates JR 3rd, Fredrick K, Schimmel P, Ackerman SL. 2018. ANKRD16 prevents neuron loss caused by an editing defective tRNA synthetase. Nature 557:510-515.

Ishimura R, Nagy G, Dotu I, Chuang JH, Ackerman SL. 2016. Activation of GCN2 kinase by ribosome stalling links translation elongation with translation initiation. Elife e14295.

Garrett AM, Jucius TJ, Sigaud LPR, Tang FL, Xiong WC, Ackerman SL, Burgess RW. 2016. Analysis of expression pattern and genetic deletion of Netrin5 in the developing mouse. Front Mol Neurosci 9:3.

Poliak S, Morales D, Croteau LP, Krawchuk D, Palmesino E, Morton S, Jean-François C, Charron F, Dalva MB, Ackerman SL, Kao TJ, Kania A. Synergistic integration of Netrin and ephrin axon guidance signals by spinal motor neurons. Elife 2015 e10841.

Jia Y, Jucius TJ, Cook SA, Ackerman SL. 2015. Loss of Clcc1 results in ER stress, misfolded protein accumulation, and neurodegeneration. J Neurosci 35:3001-9.

Liu Y, Lee JW, Ackerman SL. 2015. Mutations in the microtubule-associated protein 1A (Map1a) gene cause Purkinje cell degeneration. J Neurosci 35:4587-98.

Liu Y, Satz JS, Vo MN, Nangle LA, Schimmel P, Ackerman SL. 2014. Deficiencies in tRNA synthetase editing activity cause cardioproteinopathy. Proc Natl Acad Sci U S A 111:17570-5.

Ishimura R, Nagy G, Dotu I, Zhou H, Yang XL, Schimmel P, Senju S, Nishimura Y, Chuang JH, Ackerman SL. 2014. Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration. Science 345:455-9.

Commentary:
Darnell JC. 2014. Molecular biology. Ribosome rescue and neurodegeneration. Science 345.6195:378-379.

Srivatsa S, Parthasarathy S, Britanova O, Bormuth I, Donahoo AL, Ackerman SL, Richards LJ, Tarabykin V. 2014. Unc5C and DCC act downstream of Ctip2 and Satb2 and contribute to corpus callosum formation. Nat Commun 5:3708.

Natarajan S, Li Y, Miller EE, Shih DJ, Taylor MD, Stearns TM, Bronson RT, Ackerman SL, Yoon JK, Yun K. 2013. Notch1-induced brain tumor models the sonic hedgehog subgroup of human medulloblastoma. Cancer Res 73:5381-90.

Liu Y, Zaun HC, Orlowski J, Ackerman SL. 2013. CHP1-mediated NHE1 biosynthetic maturation is required for Purkinje cell axon homeostasis. J Neurosci 33:12656-69.

Jia Y, Mu JC, Ackerman SL. 2012. Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration. Cell 148:296-308.

Zhao L, Spassieva SD, Jucius TJ, Shultz LD, Shick HE, Macklin WB, Hannun YA, Obeid LM, Ackerman SL. 2011. A deficiency of ceramide biosynthesis causes cerebellar Purkinje cell neurodegeneration and lipofuscin accumulation. PLoS Genet 7 e1002063.

Kim D, Ackerman SL. 2011. The UNC5C netrin receptor regulates dorsal guidance of mouse hindbrain axons. J Neurosci 31:2167-79.

Stum M, McLaughlin HM, Kleinbrink EL, Miers KE, Ackerman SL, Seburn KL, Antonellis A, Burgess RW. 2011. An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations. Mol Cell Neurosci 46:432-43.

Zhao L, Rosales C, Seburn K, Ron D, Ackerman SL. 2010. Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome. Hum Mol Genet 19:25-35.

Ishimura R, Martin GR, Ackerman SL. 2008. Loss of apoptosis-inducing factor results in cell-type-specific neurogenesis defects. J Neurosci 28:4938-48.

Renaud J, Kerjan G, Sumita I, Zagar Y, Georget V, Kim D, Fouquet C, Suda K, Sanbo M, Suto F, Ackerman SL, Mitchell KJ, Fujisawa H, Chédotal A. 2008. Plexin-A2 and its ligand, Sema6A, control nucleus-centrosome coupling in migrating granule cells. Nat Neurosci 11:440-9.

Hu Z, Shanker S, MacLean JA 2nd, Ackerman SL, Wilkinson MF. 2008. The RHOX5 homeodomain protein mediates transcriptional repression of the netrin-1 receptor gene Unc5c. J Biol Chem 283:3866-76.

Bernet A, Mazelin L, Coissieux MM, Gadot N, Ackerman SL, Scoazec JY, Mehlen P. 2007. Inactivation of the UNC5C Netrin-1 receptor is associated with tumor progression in colorectal malignancies. Gastroenterology 133:1840-8.

Dillon AK, Jevince AR, Hinck L, Ackerman SL, Lu X, Tessier-Lavigne M, Kaprielian Z. 2007. UNC5C is required for spinal accessory motor neuron development. Mol Cell Neurosci 35:482-9.

Lee JW, Beebe K, Nangle LA, Jang J, Longo-Guess CM, Cook SA, Davisson MT, Sundberg JP, Schimmel P, Ackerman SL. 2006. Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature 443:50-5.

Commentary:
Roy H, Ibba M. 2006. Molecular biology: sticky end in protein synthesis. Nature 443.7107:41-42.

van Empel VP, Bertrand AT, van Oort RJ, van der Nagel R, Engelen M, van Rijen HV, Doevendans PA, Crijns HJ, Ackerman SL, Sluiter W, De Windt LJ. 2006. EUK-8, a superoxide dismutase and catalase mimetic, reduces cardiac oxidative stress and ameliorates pressure overload-induced heart failure in the harlequin mouse mutant. J Am Coll Cardiol 48:824-32.

Burgess RW, Jucius TJ, Ackerman SL. 2006. Motor axon guidance of the mammalian trochlear and phrenic nerves: dependence on the netrin receptor Unc5c and modifier loci. J Neurosci 26:5756-66.

Bock NA, Kovacevic N, Lipina TV, Roder JC, Ackerman SL, Henkelman RM. 2006. In vivo magnetic resonance imaging and semiautomated image analysis extend the brain phenotype for cdf/cdf mice. J Neurosci 26:4455-9.

Watanabe K, Tamamaki N, Furuta T, Ackerman SL, Ikenaka K, Ono K. 2006. Dorsally derived netrin 1 provides an inhibitory cue and elaborates the ‘waiting period’ for primary sensory axons in the developing spinal cord. Development 133:1379-87.

Xie Y, Hong Y, Ma XY, Ren XR, Ackerman SL, Mei L, Xiong WC. 2006. DCC-dependent phospholipase C signaling in netrin-1-induced neurite elongation. J Biol Chem 281:2605-11.

Xie Y, Ding YQ, Hong Y, Feng Z, Navarre S, Xi CX, Zhu XJ, Wang CL, Ackerman SL, Kozlowski D, Mei L, Xiong WC. 2005. Phosphatidylinositol transfer protein-alpha in netrin-1-induced PLC signaling and neurite outgrowth. Nat Cell Biol 7:1124-32.

Zhao L, Longo-Guess C, Harris BS, Lee JW, Ackerman SL. 2005. Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP. Nat Genet 37:974-9.

Commentary:
Zoghbi, H. 2005. SILencing misbehaving proteins. Nat Genet 37:1302–1303.

van Empel VP, Bertrand AT, van der Nagel R, Kostin S, Doevendans PA, Crijns HJ, de Wit E, Sluiter W, Ackerman SL, De Windt LJ. 2005. Down regulation of apoptosis-inducing factor in harlequin mutant mice sensitizes the myocardium to oxidative stress-related cell death and pressure overload-induced decompensation. Circ Res 96: e92-e101.

Munroe RJ, Ackerman SL, Schimenti JC. 2004. Genome wide two-generation screens for recessive mutations by ES cell mutagenesis. Mamm Genome 15:960-5.

Schwarting GA, Raitcheva D, Bless EP, Ackerman SL, Tobet S. 2004. Netrin 1-mediated chemo attraction regulates the migratory pathway of LHRH neurons. Eur J Neurosci 19:11-20.

Finger JH, Bronson RT, Harris B, Johnson K, Przyborski SA, Ackerman SL. 2002. The netrin 1 receptors Unc5h3 and Dcc are necessary at multiple choice points for the guidance of corticospinal tract axons. J Neurosci 22:10346-56.

Klein JA, Longo-Guess CM, Rossmann MP, Seburn KL, Hurd RE, Frankel WN, Bronson RT, Ackerman SL. 2002. The harlequin mouse mutation down regulates apoptosis-inducing factor. Nature 419:367-74.

Commentary:
Bonni A. 2003. Neurodegeneration: A Non-Apoptotic Role for AIF in the Brain. Cell 13.1: PR19-R21.

Lipton SA. 2002. Dueling Activities of AIF in Cell Death versus Survival. Cell 111.2: P147-150.

Park C, Falls W, Finger JH, Longo-Guess CM, Ackerman SL. 2002. Deletion in Catna2, encoding alpha N-catenin, causes cerebellar and hippocampal lamination defects and impaired startle modulation. Nat Genet 31:279-84.

Park C, Finger JH, Cooper JA, Ackerman SL. 2002. The cerebellar deficient folia (cdf) gene acts intrinsically in Purkinje cell migrations. Genesis 32:32-41.

Barclay J, Balaguero N, Mione M, Ackerman SL, Letts VA, Brodbeck J, Canti C, Meir A, Page KM, Kusumi K, Perez-Reyes E, Lander ES, Frankel WN, Gardiner RM, Dolphin AC, Rees M. 2001. Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J Neurosci 21:6095-104.

Beierbach E, Park C, Ackerman SL, Goldowitz D, Hawkes R. 2001. Abnormal dispersion of a Purkinje cell subset in the mouse mutant cerebellar deficient folia (cdf). J Comp Neurol 436:42-51.

Chen Z, Karaplis AC, Ackerman SL, Pogribny IP, Melnyk S, Lussier-Cacan S, Chen MF, Pai A, John SW, Smith RS, Bottiglieri T, Bagley P, Selhub J, Rudnicki MA, James SJ, Rozen R. 2001. Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Hum Mol Genet 433-43.

Näf D, Wilson LA, Bergstrom RA, Smith RS, Goodwin NC, Verkerk A, van Ommen GJ, Ackerman SL, Frankel WN, Schimenti JC. 2001. Mouse models for the Wolf-Hirschhorn deletion syndrome. Hum Mol Genet 10:91-8.

Park C, Longo CM, Ackerman SL. 2000. Genetic and physical mapping of the cerebellar deficient folia (cdf) locus on mouse chromosome 6. Genomics 69:135-8.

Goldowitz D, Hamre KM, Przyborski SA, Ackerman SL. 2000. Granule cells and cerebellar boundaries: analysis of Unc5h3 mutant chimeras. J Neurosci 20:4129-37.

Przyborski SA, Damjanov I, Knowles BB, Ackerman SL. 1998. Differential expression of the zinc finger gene TCF17 in testicular tumors. Cancer Res 58:4598-601.

Przyborski SA, Knowles BB, Handel MA, Gurwitch SA, Ackerman SL. 1998. Differential expression of the zinc finger gene Zfp105 during spermatogenesis. Mamm Genome 9:758-62.

Ackerman SL, Knowles BB. 1998. Cloning and mapping of the UNC5C gene to human chromosome 4q21-q23. Genomics 52:205-8.

Przyborski SA, Knowles BB, Ackerman SL. 1998. Embryonic phenotype of Unc5h3 mutant mice suggests chemo repulsion during the formation of the rostral cerebellar boundary. Development 125:41-50.

Heyer BS, Warsowe J, Solter D, Knowles BB, Ackerman SL. 1997. New member of the Snf1/AMPK kinase family, Melk, is expressed in the mouse egg and preimplantation embryo. Mol Reprod Dev 148-56.

Leonardo ED, Hinck L, Masu M, Keino-Masu K, Ackerman SL, Tessier-Lavigne M. 1997. Vertebrate homologues of C elegans UNC-5 are candidate netrin receptors. Nature 386:833-8.

Ackerman SL, Kozak LP, Przyborski SA, Rund LA, Boyer BB, Knowles BB. 1997. The mouse rostral cerebellar malformation gene encodes an UNC-5-like protein. Nature 386:838-42.

Leonardo ED, Hinck L, Masu M, Keino-Masu K, Fazeli A, Stoeckli ET, Ackerman SL, Weinberg RA, Tessier-Lavigne M. 1997. Guidance of developing axons by netrin-1 and its receptors. Cold Spring Harb Symp Quant Biol 62:467-78.

Hwang S, Benjamin LE, Oh B, Rothstein JL, Ackerman SL, Beddington RS, Solter D, Knowles BB. 1996. Genetic mapping and embryonic expression of a novel, maternally transcribed gene Mem3. Mamm Genome 7:586-90.

Ackerman SL, Knowles BB, Andrews PW. 1994. Gene regulation during neuronal and non-neuronal differentiation of NTERA2 human teratocarcinoma-derived stem cells. Brain Res Mol Brain Res 25:157-62.

Reviews and Commentaries

Griffin E, Ackerman SL. 2020. Lipid Metabolism and Axon Degeneration: AN ACOX1 Balancing Act. Neuron May 20;106:551-553.

Commentary on:
Chung HL, Wangler MF, Marcogliese PC. et al. 2020. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron 106.4:589-606.

Kapur M, Ackerman SL. 2018. mRNA Translation Gone Awry: Translation Fidelity and Neurological Disease. Trends Genet 34:218-231.

Kapur M, Monaghan CE, Ackerman SL. 2017. Regulation of mRNA Translation in Neurons-A Matter of Life and Death. Neuron Nov 1;96:616-637.

Nagy G, Ackerman SL. 2013. Cholesterol metabolism and Rett syndrome pathogenesis. Nat Genet 45:965-7.

Commentary on:
Buchovecky CM, Turley SD, Brown HM. et al. 2013. A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. Nat Genet 45.9:1013-1020.

Ackerman SL, Cox GA. 2008. From ER to Eph receptors: new roles for VAP fragments. Cell 133:949-51.

Commentary on:
Tsuda H, Han SM, Yang Y, et al. 2008. The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors. Cell 133.6:963-977.

Zhao L, Ackerman SL. 2006. Endoplasmic reticulum stress in health and disease. Curr Opin Cell Biol 18:444-52.

Herrup K, Neve R, Ackerman SL, Copani A. 2004. Divide and die: cell cycle events as triggers of nerve cell death. J Neurosci 24:9232-9.

Klein JA, Ackerman SL. 2003. Oxidative stress, cell cycle, and neurodegeneration. J Clin Invest 11:785-93.