Jeffrey Rothstein MD, PhD

Professor of Neurology and Neuroscience; Director, Brain Science Institute




1.  Tsitkov, S., et al. Disease related changes in ATAC-seq of iPSC-derived motor neuron lines from ALS patients and controls. Nat Commun 15, 3606 (2024).PMC11066062

2.  Min, K., et al. Lactate transporter MCT1 in hepatic stellate cells promotes fibrotic collagen expression in nonalcoholic steatohepatitis. Elife 12(2024).PMC10987092

3.  Fare, C.M. & Rothstein, J.D. Nuclear pore dysfunction and disease: a complex opportunity. Nucleus15, 2314297 (2024).PMC10883112

4.  Babu, S., et al. Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial. Brain (2024)

5.  Workman, M.J., et al. Large-scale differentiation of iPSC-derived motor neurons from ALS and control subjects. Neuron 111, 1191-1204 e1195 (2023).PMC10557526

6.  Rothstein, J.D., Warlick, C. & Coyne, A.N. Highly variable molecular signatures of TDP-43 loss of function are associated with nuclear pore complex injury in a population study of sporadic ALS patient iPSNs. bioRxiv (2023).PMC10760028

7.  Rothstein, J.D., et al. G(2)C(4) targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons. Acta Neuropathol 147, 1 (2023)

8.  Maragakis, N.J. & Rothstein, J.D. The Evolving Landscape of Motor Neuron Disease Therapeutics. Neurotherapeutics 19, 1047-1049 (2022).PMC9587153

9.  Katz, J.S., et al. A Phase 1 study of GDC-0134, a dual leucine zipper kinase inhibitor, in ALS. Ann Clin Transl Neurol 9, 50-66 (2022).PMC8791798

10.  Gao, J., et al. Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins. Sci Transl Med 14, eabq3215 (2022).PMC10359073

11.  Duan, L., et al. Nuclear RNA binding regulates TDP-43 nuclear localization and passive nuclear export. Cell Rep 40, 111106 (2022).PMC9345261

12.  Coyne, A.N. & Rothstein, J.D. Nuclear pore complexes — a doorway to neural injury in neurodegeneration. Nature Reviews Neurology 18, 348-362 (2022)

13.  Baxi, E.G., et al. Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines. Nat Neurosci 25, 226-237 (2022).PMC8825283

14.  Zaepfel, B.L., et al. UPF1 reduces C9orf72 HRE-induced neurotoxicity in the absence of nonsense-mediated decay dysfunction. Cell Rep 34, 108925 (2021).PMC8063722

15.  Wang, S., et al. Nuclear export and translation of circular repeat-containing intronic RNA in C9ORF72-ALS/FTD. Nat Commun 12, 4908 (2021).PMC8363653

16.  Philips, T., et al. MCT1 Deletion in Oligodendrocyte Lineage Cells Causes Late-Onset Hypomyelination and Axonal Degeneration. Cell Rep 34, 108610 (2021).PMC8020895

17.  Escartin, C., et al. Reactive astrocyte nomenclature, definitions, and future directions. Nat Neurosci24, 312-325 (2021).PMC8007081

18.  Coyne, A.N. & Rothstein, J.D. The ESCRT-III protein VPS4, but not CHMP4B or CHMP2B, is pathologically increased in familial and sporadic ALS neuronal nuclei. Acta Neuropathol Commun 9, 127 (2021).PMC8287756

19.  Coyne, A.N. & Rothstein, J.D. Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD. Acta Neuropathol Commun 9, 45 (2021).PMC7977268

20.  Coyne, A.N., et al. Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS. Sci Transl Med 13(2021).PMC9022198

21.  Paganoni, S., et al. Trial of Sodium Phenylbutyrate-Taurursodiol for Amyotrophic Lateral Sclerosis. N Engl J Med 383, 919-930 (2020)

22.  Mordes, D.A., et al. Absence of Survival and Motor Deficits in 500 Repeat C9ORF72 BAC Mice. Neuron 108, 775-783 e774 (2020)

23.  Hayes, L.R., Duan, L., Bowen, K., Kalab, P. & Rothstein, J.D. C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import. Elife 9(2020).PMC7051184

24.  Coyne, A.N., et al. G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD. Neuron 107, 1124-1140 e1111 (2020).PMC8077944

25.  Miller, S.J., et al. Molecularly defined cortical astroglia subpopulation modulates neurons via secretion of Norrin. Nat Neurosci 22, 741-752 (2019)

26.  Philips, T. & Rothstein, J.D. Oligodendroglia: metabolic supporters of neurons. J Clin Invest 127, 3271-3280 (2017).PMC5669561

27.  Eftekharzadeh, B., et al. Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer's Disease. Neuron 101, 349 (2019).PMC6377243

28.  Zhang, K., et al. Stress Granule Assembly Disrupts Nucleocytoplasmic Transport. Cell 173, 958-971 e917 (2018).PMC6083872

29.  Grima, J.C., et al. Mutant Huntingtin Disrupts the Nuclear Pore Complex. Neuron 94, 93-107 e106 (2017)

30.  Zhang, Y.J., et al. C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins. Nat Neurosci 19, 668-677 (2016).PMC5138863

31.  Haeusler, A.R., Donnelly, C.J. & Rothstein, J.D. The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease. Nat Rev Neurosci 17, 383-395 (2016)

32.  Zhang, K., et al. The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. Nature 525, 56-61 (2015).PMC4800742