Pioneering Adult-Onset Neurodegeneration Research
Spinocerebellar ataxias • Amyotrophic lateral sclerosis (ALS) • Parkinson's disease
At the Pulst and Scoles Laboratory, we're dedicated to the development of therapeutics for inherited diseases of the nervous system. We have made significant contributions in understanding the mechanisms involved in spinocerebellar ataxias, as well as translating these discoveries into novel treatments. Our research is held to the highest standards of excellence, and has been funded by organizations like NINDS for decades.
Recent Publications
- Paul S, Dansithong W, Figueroa KP, Gandelman M, Hivare P, Scoles DR, Pulst SM. Staufen2 dysregulation in neurodegenerative disease. J Biol Chem 2025 Feb 13:108316. doi: 10.1016/j.jbc.2025.108316. Online ahead of print.
- Petit E, Schmitz-Hübsch T, Coarelli G, Jacobi H, Heinzmann A, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Pulst SM, Subramony SH, Ewenczyk C, Brice A, Durr A, Klockgether T, Ashizawa T, Tezenas du Montcel S. (2024). SARA captures disparate progression and responsiveness in spinocerebellar ataxias. J Neurol. 2024 Jun 1. doi: 10.1007/s00415-024-12475-1. Epub ahead of print.
- Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst SM. A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. Nat Genet. 2024 Jun;56(6):1080-1089.
- Peppel L, Lai RY, Opal P, Schmahmann J, Gomez C, Paulson H, Zesiewicz T, Perlman S, Wilmot G, Ying S, Onyike C, Bushara K, Geschwind M, Figueroa KP, Pulst SM, Subramony S, Duquette A, Ashizawa T, Hamedani A, Davis M, Srinivasan S, Burns M, Moore L, Shakkottai V, Rosenthal L, Kuo SH, Lin CY. Increased Risk of Suicidal Ideation in Patients with Spinocerebellar Ataxias (S2.009). (2024). Neurology. 2024 April 9;102(17): Supplement 1.
- Paul S, Dansithong W, Gandelman M, Figueroa KP, Scoles DR, Pulst SM. Cerebellar Micro-RNA Profile in a Mouse Model of Spinocerebellar Ataxia Type 2. Neurol Genet. 2024 Mar 28;10(2):e200144.
- Anderson CJ, Cadeddu R, Anderson DN, Huxford JA, VanLuik ER, Odeh K, Pittenger C, Pulst SM, Bortolato M. A novel naïve Bayes approach to identifying grooming behaviors in the force-plate actometric platform. J Neurosci Methods. 2024 Mar;403:110026.
- Lai RY, Rummey C, Amlang CJ, Lin CR, Chen TX, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Ying SH, Onyike CU, Zesiewicz TA, Bushara KO, Geschwind MD, Figueroa KP, Pulst SM, Subramony SH, Burns MR, Opal P, Duquette A, Ashizawa T, Hamedani AG, Davis MY, Srinivasan SR, Moore LR, Shakkottai VG, Rosenthal LS, Kuo SH. Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias. Mov Disord Clin Pract. 2024 May;11(5):496-503.
- Levy MA, Tian J, Gandelman M, Cheng H, Tsapekos M, Crego SR, Maddela R, Sinnott R. A Multivitamin Mixture Protects against Oxidative Stress-Mediated Telomere Shortening. J Diet Suppl. 2024;21(1):53-70.
- Selvadurai LP, Perlman SL, Ashizawa T, Wilmot GR, Onyike CU, Rosenthal LS, Shakkottai VG, Paulson HL, Subramony SH, Bushara KO, Kuo SH, Dietiker C, Geschwind MD, Nelson AB, Gomez CM, Opal P, Zesiewicz TA, Hawkins T, Yacoubian TA, Nopoulos PC, Sha SJ, Morrison PE, Figueroa KP, Pulst SM, Schmahmann JD. The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias. Cerebellum. 2024 Jan 2.
- Hoshina Y, Wright MA, Warner JEA, Richards T, Salzman KL, Pulst SM, Spoth E, Clardy SL. Pearls & Oy-sters: ATX-FGF14 Mimicking Autoimmune Pathology. Neurology. 2023 Oct 3;101(14):e1478-e1482.
- Selvadurai LP, Perlman SL, Wilmot GR, Subramony SH, Gomez CM, Ashizawa T, Paulson HL, Onyike CU, Rosenthal LS, Sair HI, Kuo SH, Ratai EM, Zesiewicz TA, Bushara KO, Öz G, Dietiker C, Geschwind MD, Nelson AB, Opal P, Yacoubian TA, Nopoulos PC, Shakkottai VG, Figueroa KP, Pulst SM, Morrison PE, Schmahmann JD. The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications. Cerebellum. 2023 Oct;22(5):790-809.
- Figueroa K, Gross C, Buena Atienza E, Paul S, Gandelman M, Haack T, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Dufke C, Hübener-Schmid J, Scoles DR, Koeppen A, Ossowski S, Spielmann M, Riess O, Pulst SM. (2023). GGC Expansion in ZFHX3 Causes SCA4 and Impairs Autophagy. medRxiv. Pre-print.
- Pulst SM, Scoles DR, Paul S. (2023). Effects of STAU1/staufen1 on autophagy in neurodegenerative diseases. Autophagy. 2023 Sep;19(9):2607-2608.
- Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T; American Genome Center; International LBD Genomics Consortium; International ALS/FTD Consortium; PROSPECT Consortium; Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chiò A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias. Cell Genom. 2023 May 4;3(6):100316.
- Pulst, SM. (2023). ASOs Against ATXN2 in Preclinical and Phase 1 Trials. In: Soong Bw, Manto M, Brice A, Pulst SM (eds) Trials for Cerebellar Ataxias. Contemporary Clinical Neuroscience. Springer, Cham.
- Figueroa KP, Anderson CJ, Paul S, Dansithong W, Gandelman M, Scoles DR, Pulst, SM. (2023). Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat. Human Molecular Genetics.
- Bartelt LC, Switonski PM, Adamek G, Carvalho J, Duvick LA, Jarrah SI, McLoughlin HS, Scoles DR, Pulst SM, Orr HT, Hull C, Lowe CB, La Spada AR. Purkinje-Enriched snRNA-seq in SCA7 Cerebellum Reveals Zebrin Identity Loss as a Central Feature of Polyglutamine Ataxias. bioRxiv [Preprint]. 2023 May 11:2023.03.19.533345.
- Moretti P, Figueroa KP, Pulst SM, Dotti A, Stevens J, Allen-Brady K, Cannon-Albright L. Identification of candidate Parkinson’s disease predisposition genes in high-risk pedigrees (S42.001). (2023). Neurology. Apr 25;100(17):Supplement 2.
- Wong KH, Dennis E, fagatele L, Madsen K, Mckay M, Longnecker E, Fukushima A, Slattum G, Lyden S, Digre K, Miranda M, Wilde E, Figueroa KP, Forrest A, Arain A, Beeler L, Castillo M, Francis T, Frost N, Gilandehi S, Neate C, Peters A, Shapiro S, Pulst SM, Rose J, De Havenon A, Clardy S. Novel BIPOC+ Next-Generation Summer Neuroscience Research Internship Initiative (P11-2.002). Neurology. 2023 April 25;100(17):Supplement 2.
- Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Figueroa KP, Pulst SM, Fauret-Amsellem AL, Dufke C, Paulson HL, Öz G, Klockgether T, Durr A, and Ashizawa T, for the READISCA Consortium Collaborators. Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3. Neurology. 2023 Apr 25;100(17):e1836-e1848.
- Paul S, Dansithong W, Gandelman M, Figueroa KP, Zu T, Ranum LPW, Scoles DR, Pulst SM. (2023). Staufen Impairs Autophagy in Neurodegeneration. Annals of Neurology, 93(2), 398-416.
- Pulst SM. New Mission, New Reviews, New Word Counts, Oh My! Neurol Genet. 2022 Dec 15;8(6):e200045.
- Carmo-Silva S, Ferreira-Marques M, Nóbrega C, Botelho M, Costa D, Aveleira CA, Pulst SM, Pereira de Almeida L, Cavadas C. Ataxin-2 in the hypothalamus at the crossroads between metabolism and clock genes. J Mol Endocrinol. 2022 Dec 7;70(1):e210272.
- Scoles DR, Paul S, Dansithong W, Figueroa KP, Gandelman M, Royzen F, Anderson C, Pulst SM. Targeting Staufen 1 with antisense oligonucleotides for treating ALS and SCA2. bioRxiv. 2022.11.16.516816. Preprint.
- van Kampen AM, Bermudez Martinez A, Banos LI, Hautmann F, Jung H, Mendizabal M, Figueroa KP, Prestel S, Taheri Monfared S, Wang Q, Wichmann K, Yang H. Boson-jet and jet-jet azimuthal correlations at high transverse momenta. arXiv preprint. 2022. arXiv:2209.13945.
- Scoles DR, Gandelman M, Paul S, Dexheimer T, Dansithong W, Figueroa KP, Pflieger LT, Redlin S, Kales SC, Sun H, Maloney D, Damoiseaux R, Henderson MJ, Simeonov A, Jadhav A, Pulst SM. A quantitative high-throughput screen identifies compounds that lower expression of the SCA2-and ALS-associated gene ATXN2. J Biol Chem. 2022, 298(8):102228.
- Yang H, Bermudez Martinez A, Estevez Banos LI, Hautmann F, Jung H, Mendizbal M, Figueroa K, Prestel S, Taheri Monfared S, van Kempen AM, Wang Q, Wichmann K. Back-to-back azimuthal correlations in Z+ jet events at high transverse momentum in the TMD parton branching method at next-to-leading order. Eur. Phys. J. C 82, 755 (2022).
- Smith T, Scoles DR, Carlson N, Clardy S, Greenlee J. Interaction of Anti-Yo and anti-Hu Antibodies with Neurons in Living Mice Following Intracranial Injection or Infusion: Demonstration of Neuronal Antibody Uptake and Early Detection of Neuronal Death (S41.004). Neurology. 2022 May 3;98(18_supplement).
- Gandelman M, Dansithong W, Kales SC, Paul S, Maag G, Aoyama E, Zakharov A, Rai G, Dexheimer T, Whitehill BM, Sun H, Jadhav A, Simeonov A, Henderson MJ, Huynh DP, Pulst SM, Scoles DR. The AKT modulator A-443654 reduces alpha-synuclein expression and normalizes ER stress and autophagy. J Biol Chem. 2021, 297(4):101191.
- Paul S, Dansithong W, Figueroa KP, Gandelman M, Scoles DR, Pulst SM. Staufen1 in Human Neurodegeneration. Ann Neurol. 2021, 89(6):1114-1128.
- Sundberg CA, Lakk M, Paul S, P Figueroa K, Scoles DR, Pulst SM, Križaj D. (2021). The RNA-binding protein and stress granule component ATAXIN-2 is expressed in mouse and human tissues associated with glaucoma pathogenesis. J Comp Neurol, 530(2), 537-552.
- Chopra R, Bushart DD, Cooper JP, Yellajoshyula D, Morrison LM, Huang H, Handler HP, Man LJ, Dansithong W, Scoles DR, Pulst SM, Orr HT, Shakkottai VG. (2020). Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1. Hum Mol Genet, 29(19), 3249-3265.
- Gandelman M, Dansithong W, Figueroa KP, Paul S, Scoles DR, Pulst SM. Staufen 1 amplifies proapoptotic activation of the unfolded protein response. Cell Death Differ. 2020, 27(10):2942-2951.
- Scoles DR, Dansithong W, Pflieger LT, Paul S, Gandelman M, Figueroa KP, Rigo F, Bennett CF, Pulst SM. ALS-associated genes in SCA2 mouse spinal cord transcriptomes. Hum Mol Genet. 2020, 29(10):1658-1672.
- Anderson CJ, Figueroa KP, Doval AD, Pulst SM. Deep cerebellar stimulation reduces ataxic motor symptoms in the shaker rat. Ann Neurol. 2019 May;85(5):681-690.
- Scoles DR, Pulst SM. Antisense therapies for movement disorders. Mov Disord. 2019 Aug;34(8):1112-1119.
- Pulst SM. Antisense therapies for movement disorders. Nervenarzt. 2019 Review. In German.
- Scoles DR, Minikel EV, Pulst SM. Antisense oligonucleotides: A primer. Neurol Genet. 2019 Apr 1;5(2):e323.
- Brown AS, Meera P, Altindag B, Chopra R, Perkins EM, Paul S, Scoles DR, Tarapore E, Magri J, Huang H, Jackson M, Shakkottai VG, Otis TS, Pulst SM, Atwood SX, Oro AE. MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias. Proc Natl Acad Sci U S A. 2018 Dec 26;115(52):E12407-E12416.
- Paul S, Dansithong W, Figueroa KP, Scoles DR, Pulst SM. Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration. Nat Commun. 2018 Sep 7;9(1):3648.
- Scoles DR, Pulst SM. Oligonucleotide therapeutics in neurodegenerative diseases. RNA Biol. 2018;15(6):707-714.
- Scoles DR, Pulst SM. Spinocerebellar Ataxia Type 2. Adv Exp Med Biol. 2018;1049:175-195. .
- Figueroa KP, Gan SR, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, Subramony SH, Ashizawa T, Pulst SM, Kuo SH. C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias. Mov Disord. 2018 Mar;33(3):497-498.
- Gibson SB, Downie JM, Tsetsou S, Feusier JE, Figueroa KP, Bromberg MB, Jorde LB, Pulst SM. The evolving genetic risk for sporadic ALS. Neurology. 2017 Jul 18;89(3):226-233.
- Figueroa KP, Coon H, Santos N, Velazquez L, Mederos LA, Pulst SM. Genetic analysis of age at onset variation in spinocerebellar ataxia type 2. Neurol Genet. 2017 May 15;3(3):e155.
- Pflieger LT, Dansithong W, Paul S, Scoles D, Figueroa KP, Meera P, Otis TS, Facelli JC, Pulst SM. Gene Co-Expression Network Analysis for Identifying Modules and Functionally Enriched Pathways in SCA2. Hum Mol Genet. 2017 May 19.
- Meera P, Pulst SM, Otis TS. A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2. Elife. 2017 May 18;6. pii: e26377.
- Scoles DR, Meera P, Schneider MD, Paul S, Dansithong W, Figueroa KP, Hung G, Rigo F, Bennett CF, Otis TS, Pulst SM. Antisense oligonucleotide therapy for spinocerebellar ataxia type 2. Nature. 2017 Apr 20;544(7650):362-366.
- Becker LA, Huang B, Bieri G, Ma R, Knowles DA, Jafar-Nejad P, Messing J, Kim HJ, Soriano A, Auburger G, Pulst SM, Taylor JP, Rigo F, Gitler AD. Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice. Nature. 2017 Apr 20;544(7650):367-371.
- Wen J, Scoles DR, Facelli JC (2017). Molecular dynamics analysis of aggregation propensity of polyglutamine segments. PLoS One, 12(5), e0178333.
- Figueroa KP, Paul S, Cali T, Lopreiato R, Karan S, Frizzarin M, Ames D, Zanni G, Brini M, Dansithong W, Milash B, Scoles DR, Carafoli E, Pulst SM. Spontaneous shaker rat mutant - a new model for X-linked tremor/ataxia. Dis Model Mech. 2016 May 1;9(5):553-62. doi: 10.1242/dmm.022848.
- Meera P, Pulst SM, Otis TS. Cellular and circuit mechanisms underlying spinocerebellar ataxias. J Physiol. 2016 Aug 15;594(16):4653-60.
- Wen J, Scoles DR, Facelli J (2016). Effects of the enlargement of poly-glutamine segments on the structure and folding of ataxin-2 and ataxin-3 proteins. J Biomol Struct Dyn, May 20, 1-16.
- Dansithong W, Paul S, Scoles DR, Pulst SM, Huynh DP. Generation of SNCA Cell Models Using Zinc Finger Nuclease (ZFN) Technology for Efficient High-Throughput Drug Screening. PLoS One. 2015 Aug 28;10(8):e0136930. doi: 10.1371/journal.pone.0136930. eCollection 2015.
- Scoles DR, Ho MHT, Dansithong W, Pflieger LT, Petersen LW, Khanh KT, Pulst SM. Repeat associated non-AUG translation (RAN translation) in ATXN2 is dependent on sequence downstream of the ATXN2 CAG repeat. PLoS One, 2015 Jun 18; 10(6):e0128769.
- Dansithong W, Paul S, Figueroa KP, Rinehart MD, Wiest S, Pflieger LT, Scoles DR, Pulst SM. Ataxin-2 regulates RGS8 translation in a new BAC-SCA2 transgenic mouse model. PLoS Genetics: 22 Apr 2015, 11(4), e1005182.
- Nguyen TT, Oh SS, Weaver D, Lewandowska A, Maxfield D, Schuler MH, Smith NK, Macfarlane J, Saunders G, Palmer CA, Debattisti V, Koshiba T,Pulst S, Feldman EL, Hajnczky G, Shaw JM. Loss of Miro1-directed mitochondrial movement results in a novel murine model for neuron disease. Proc Natl Acad Sci U S A. 2014 Sep 2;111(35):E3631-40.
- Neuenschwander AG, Thai KK, Figueroa KP, Pulst SM. Amyotrophic Lateral Sclerosis Risk for Spinocerebellar Ataxia Type 2 ATXN2 CAG Repeat Alleles: A Meta-analysis. JAMA Neurol 71(12), 2014 Oct 6.
- Dai Y, Zheng K, Clark J, Swerdlow RH, Pulst SM, Sutton JP, Shinobu LA, Simon DK. Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation. Hum Mol Genet. 2014 Feb 1; 23(3):637-47.
- Wen J, Scoles DR, Facelli JC (2014). Structure Prediction of Polyglutamine Disease Proteins: Comparison of Methods. BMC Bioinformatics, 15 Suppl 7.
- Matilla-Duenas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, Sanchez I. Consensus paper: Pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum. 2013.
- Gibson SB, Figueroa KP, Bromberg MB, Pulst SM, Cannon-Albright, L. Familial clustering of ALS in a population-based resource. 2013 Jan 7;82(1):17-22.
- Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson J, Pulst SM, Subramony SH. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3, and 6 in the US; a prospective observational study. Orphanet Journal of Rare Diseases 2013, 8:177.
- Tazen S, Figueroa K, Kwan JY, Goldman J, Hunt A, Sampson J, Gutmann L, Pulst SM, Mitsumoto H, Kuo SH. Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2. JAMA Neurol. 2013 Aug 19.
- Burk K, Stzelczyk A, Reif PS, Figueroa KP, Pulst SM, Zuhlke C, Oertel WH, Hamer HM, Rosenow F. Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13). Int J Neurosci 2013 123(4):278-82.
- Hansen ST, Meera P, Otis TS, Pulst SM. Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. Hum Mol Genet. 2013 Jan 15; 22(2):271-83.
- Pulst SM, Otis TS. Repolarization matters: mutations in the Kv4.3 potassium channel cause SCA19/22. Ann Neurol. 2012 72(6):829-31.
- Hansen ST, Pulst SM. Pharmacol Biochem Behav. Response to ethanol induced ataxia between C57BL/6J and 129X1/SvJ mouse strains using a treadmill based assay. 2012 Oct 24;103(3):582-588.
- Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet. 2012 Dec 15; 21(26):5472-83.
- Kareus SA, Figueroa KP, Cannon-Albright LA, Pulst SM. Shared predispositions of parkinsonism and cancer: A population-based pedigree-linked study. Archives of Neurology 2012 69(12):1572-7. Editorial on this paper:
- Scoles DR, Pflieger LT, Thai KK, Hansen ST, Dansithong W, Pulst SM. ETS1 regulates expression of ATXN2. Human Molecular Genetics. 2012 Dec 1; 21(23):5048-65.
- Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, Minassian NA, Papazian DM, Pulst SM. Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS One. 2011 Mar 29;6(3):e17811.
- Fischbeck KH, Pulst SM. Amyotrophic lateral sclerosis and spinocerebellar ataxia 2. Neurology. 2011 Jun 14;76(24):2050-1.
- Figueroa KP, Minassian NA, Stevanin G, Waters MF, Garibyan V, Forlani S, Strzelczyk A, Bűrk K, Brice A, Dűrr A, Papazian DM, Pulst SM. KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Hum Mutation 2: 191-196 (2010).
- Scoles DR, Xu X, Wang H, Tran H, Taylor-Harding B, Li A, Karlan B. (2010) Liver X receptor agonist inhibits proliferation of ovarian carcinoma cells stimulated by oxidized low density lipoprotein. Gynecologic Oncology 116:109-16.
- Figueroa KP, Farooqi S, Harrup K, Frank J, O'Rahilly S, Pulst SM. Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity. PLoS One. 2009 Dec 14;4(12):e8280.
- Pulst SM. Neurodegenerative disease. Genetic discrimination in Huntington disease. Nat Rev Neurol. 2009 Oct;5(10):525-6.
- Huynh DP, Maalouf M, Silva AJ, Schweizer FE, Pulst, S.M. (2009) Dissociated fear and spatial learning in mice with deficiency of ataxin-2. PLoS One, 4(7):e6235.
- Liu J, Tang TS, Tu HP, Nelson O, Herndon E, Huynh DP, Pulst SM, Bezprozvanny, I (2009) Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J Neurosci, 29:9148-9162.
- Waters MF, Pulst SM. Sca13. Cerebellum. 2008;7(2):165-9.
- Li, A., Scoles, D.R., Armstrong, K., and Karlan, B. Androgen receptor cytosine-adenine-guanine repeat polymorphisms modulate EGFR signaling in epithelial ovarian carcinomas. Gynecologic Oncology 109(2):220-5; 2008.
- Scoles, D.R. The merlin interacting proteins reveal multiple targets for NF2 therapy. Biochimica et Biophysica Acta, Reviews on Cancer 1785:32-54; 2008.
- Scoles DR, Pavelka J, Cass I, Tran H, Baldwin RL, Armstrong K, Karlan BY. (2008) Characterization of CSOC 882, a novel immortalized ovarian cancer cell line expressing EGFR, HER2, and activated AKT. Gynecologic Oncology 104:120-28.
- Al-Ramahi I, Perez AM, Lim J, Zhang M, Sorensen R, de Haro M, Branco J, Pulst SM, Zoghbi HY, Botas J. (2007) dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. PLoS Genet, 3:e234. Epub 2007 Nov 16.
- Simon DK, Zheng K, Velazquez L, Santos N, Almaguer L, Figueroa KP, Pulst SM. Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2. Arch Neurol. 2007 Jul;64(7):1042-4.
- Scoles, D.R., Das, A., and Pulst, S.M. “Primary Tumors of the Nervous System,” Emory and Rimoin’s Principals and Practice of Medical Genetics, (eds: Rimoin, D.L., Connor, J.M., Pyeritz, R.E., Korf, B.R.) 5th Edition, Chapter 131, pp. 2879-2894, Livingstone Churchill, New York, 2007.
- Ng H, Pulst SM, Huynh DP. (2007). Ataxin-2 mediated cell death is dependent on domains downstream of the polyQ repeat. Exp Neurol, 208(2), 207-15.
- Huynh DP, Nguyen DT, Pulst-Korenberg JB, Brice A, Pulst SM. (2007). Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death. Exp Neurol, 203(2), 531-41.
- Willeumier K, Pulst SM, Schweizer FE (2006) Proteasome inhibition triggers activity-dependent increase in the size of the recycling vesicle pool in hippocampal neurons. J Neurosci, 26:11333-11341.
- Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JPA, Nolte D, Evidente VG, Fee D, Muller U, Durr A, Brice A, Papazian DM, Pulst SM (2006) Mutations in the voltage-gated potassium channel KCNC3 cause degenerative and developmental CNS phenotypes. Nature Genetics, 4:447-451.
- Scoles, D.R., Yong, W., Qin, Y., Wawrowsky, K. and Pulst, S.M. Schwannomin inhibits tumorigenesis through direct interaction with the eukaryotic initiation factor 3 subunit c (eIF3c). Human Molecular Genetics. 15:1059-1070; 2006.
- Kiehl TR, Nechiporuk A, Figueroa KP, Keating MT, Huynh DP, Pulst SM. (2006). Generation and characterization of Sca2 (ataxin-2) knockout mice. Biochem Biophys Res Commun, 339(1), 17-24.
- Pulst SM, Santos N, Wang D, Yang HY, Huynh D, Velazquez L, Figueroa KP (2005) Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1a channel modifies age of onset. Brain, 128:2297-2303.
- Scoles DR, Qin Y, Nguyen V, Gutmann DH, Pulst SM. (2005) HRS inhibits EGF receptor signaling in the RT4 rat schwannoma cell line. Biochem Biophys Res Commun, 335, 385-92.
- Glass AS, Huynh DP, Franck T, Woitalla D, Muller T, Pulst SM, Berg D, Kruger R, Riess O. (2004). Screening for mutations in synaptotagmin XI in Parkinson's disease. J Neural Transm Suppl, (68), 21-8.
- Scoles DR, Pulst SM. Brain Tumors, Genetics. Encyclopedia of the Neurological Sciences. USA: Elsevier Science, 2003, pp. 470-72.
- Huynh DP, Scoles DR, Nguyen D, Pulst SM (2003) The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. Hum Mol Genet, 12(20):2587-2597.
- Huynh DP, Yang HT, Vakharia H, Nguyen D, Pulst SM. (2003). Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death. Hum Mol Genet, 12(13), 1485-96.
- Oh MK, Scoles DR, Haipek C, Strand AD, Gutmann DH, Olson JM, Pulst SM. (2003). Genetic heterogeneity of stably transfected cell lines revealed by expression profiling with oligonucleotide microarrays. J. Cell. Biochem. 90:1068-1078.
- Scoles DR, Nguyen VD, Qin Y, Sun CS, Morrison H, Gutmann DH, Pulst SM (2002) Neurofibromatosis 2 (NF2) tumor suppressor schwannomin and its interacting protein HRS regulate STAT signaling. Hum. Mol. Genet 11(25):3179-89.
- Sun CX, Haipek C, Scoles DR, Pulst SM, Giovannini M, Komada M, Gutmann DH (2002) Functional analysis of the relationship between the neurofibromatosis 2 tumor suppressor and its binding partner, hepatocyte growth factor-regulated tyrosine kinase substrate. Hum. Mol. Genet. 22(25):3167-78.
- Scoles DR, Chen M, Pulst SM (2002) Effects of NF2 missense mutations on schwannomin interactions. Biochem Biophys Res Commun, 335, 385-92.
- Huynh DP, Dy M, Nguyen D, Kiehl TR, Pulst SM. (2001). Differential expression and tissue distribution of parkin isoforms during mouse development. Brain Res Dev Brain Res, 130(2), 173-81.
- Kiehl TR, Shibata H, Vo T, Huynh DP, Pulst SM. (2001). Identification and expression of a mouse ortholog of A2BP1. Mamm Genome, 12(8), 595-601.
- Konakova M, Huynh DP, Yong W, Pulst SM. (2001). Cellular distribution of torsin A and torsin B in normal human brain. Arch Neurol, 58(6), 921-7.
- Gutmann DH, Haipek CA, Burke SP, Sun CX, Scoles DR, Pulst SM. (2001). The NF2 interactor, hepatocyte growth factor-regulated tyrosine kinase substrate (HRS), associates with merlin in the 'open' conformation ans suppresses cell growth and motility. Hum. Mol. Genet. 10(8):825-834.
- Costa RM, Yang T, Huynh DP, Pulst SM, Viskochil DH, Silva AJ, Brannan CI. (2001). Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nat Genet, 27(4), 399-405.
- Huynh DP, Scoles DR, Ho TH, Del Bigio MR, Pulst SM. (2000). Parkin is associated with actin filaments in neuronal and nonneural cells. Ann Neurol, 48(5), 737-44.
- Kiehl TR, Shibata H, Pulst SM. (2001). The ortholog of human ataxin-2 is essential for early embryonic patterning in C. elegans. J. Mol. Neurosci. 15:231-41.
- Huynh DP, Figueroa K, Hoang N, Pulst SM. (2000). Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat Genet, 26(1), 44-50.
- Scoles DR, Huynh DP, Chen MS, Burke SP, Gutmann DH, Pulst SM. (2000). The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrate. Hum Mol Genet, 9(11), 1567-74.
- Shibata H, Huynh DP, Pulst SM. (2000). A novel protein with RNA-binding motifs interacts with ataxin-2. Hum Mol Genet, 9(9), 1303-13.
- Huynh DP, Del Bigio MR, Ho DH, Pulst SM. (1999). Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. Ann Neurol, 45(2), 232-41.
- Scoles, D.R., Huynh, D., Morcos, P.A., Coulsell, E., Robinson, G., Tamanoi, F., and Pulst, S.M. The neurofibromatosis 2 tumor suppressor schwannomin interacts with βII-spectrin. Nature Genetics 18:354-359; 1998.
- Nechiporuk T, Huynh DP, Figueroa K, Sahba S, Nechiporuk A, Pulst SM. (1998). The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression. Hum Mol Genet, 7(8), 1301-9.
- Huynh DP, Vinters HV, Ho DH, Ho VV, Pulst SM. (1997). Neuronal expression and intracellular localization of presenilins in normal and Alzheimer disease brains. J Neuropathol Exp Neurol, 56(9), 1009-17.
- Huynh DP, Mautner V, Baser ME, Stavrou D, Pulst SM. (1997). Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas. J Neuropathol Exp Neurol, 56(4), 382-90.
- Huynh DP, Ho VV, Pulst SM. (1996). Characterization and expression of presenilin 1 in mouse brain. Neuroreport, 7(15-17), 2423-8.
- Huynh DP, Tran TM, Nechiporuk T, Pulst SM. (1996). Expression of neurofibromatosis 2 transcript and gene product during mouse fetal development. Cell Growth Differ, 7(11), 1551-61.
- Huynh DP, Pulst SM. (1996). Neurofibromatosis 2 antisense oligodeoxynucleotides induce reversible inhibition of schwannomin synthesis and cell adhesion in STS26T and T98G cells. Oncogene, 13(1), 73-84.
- Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Perlman S, Starkman S, Rouleau GA, Auburger G, Korenberg, J.R., Figueroa C, Sahba S. (1996) Identification of the SCA2 gene: Moderate expansion of a normally biallelic trinucleotide repeat. Nature Genetics, 40:269-276.
- Scoles DR, Baser ME, Pulst SM. (1996). A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. Neurology 47:544-546.
- Huynh DP, Nechiporuk T, Pulst SM. (1994). Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains. Hum Mol Genet, 3(7), 1075-9.
- Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst SM. (1994). Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Hum Mol Genet, 3(6), 885-91.
- Huynh DP, Nechiporuk T, Pulst SM. (1994). Differential expression and tissue distribution of type I and type II neurofibromins during mouse fetal development. Dev Biol, 161(2), 538-51.
- Pulst SM, Nechiporuk A, Starkman S. (1993) Anticipitation in spinocerebellar ataxia type 2. Nature Genetics 5:8-10.
- Rouleau GA and 20 others. (1993). Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 363:515-21.
- Huynh DP, Lin CT, Pulst SM. (1992). Expression of neurofibromin, the neurofibromatosis 1 gene product: studies in human neuroblastoma cells and rat brain. Neurosci Lett, 143(1-2), 233-6.
- Pulst SM and Lombroso CT. (1983). External ophthalmoplegia, alpha and spindle coma in imipramine overdose: case report and review of the literature. Ann. Neurol. 14:(5):587-90.