Research

Publications

• 2024
  • ATTRv-V30M Type A amyloid fibrils from the heart and nerves exhibit structural homogeneity
    Nguyen, B.A., Afrin, S., Yakubovska, A., Singh, V., Vaquer-Alicea, J., Kunach, P., Singh, P., Pekala, M., Ahmed, Y., Fernandez-Ramirez, M.D.C. and Cabrera Hernandez, L. & Saelices, L. , bioRxiv:the preprint server for biology, 2024.05. 14.594028. https://doi.org/10.1101/2024.05.14.594028 bioRxiv
  • Intrathecal gene therapy for giant axonal neuropathy
    Bharucha-Goebel D, Saade D, Todd JJ, Norato G, Jain M, Lehky T, Rybin D, Bailey RM, Zein W, Averion G, Chichester J, Calcedo del Hoyo R, Hu Y, Foley AR, Waite M, Huryn L, Hooper J, Crawford T, Mohassel P, Sumner C, Kang E, Donkervoort S, Hoke A, Armao D, Gray SJ, Bonnemann CG. New England Journal of Medicine. 390:1092-1104
  • Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency
    Eller MM, Zuberi AR, Fu X, Burgess SC, Lutz CM, Bailey RM. doi: 10.1101/2024.06.13.598697 bioRxiv
  • Radiologic-pathologic correlation of the spinal MRI findings in Giant Axonal Neuropathy
    Armao D, Bouldin TW, Gray SJ, Bailey RM, Bharucha-Goebel DX, Bönnemann CG, JK Smith.
  • Sleep abnormalities in SLC13A5 citrate transporter disorder
    Adams R, Ozlu C, Bailey LE, Solidum RM, Cooper S, Best CR, Elacio J, Kavanaugh BC, Brown T, Nye K, Liu J, Porter BE, Goodspeed K, Bailey RM.
  • Developmental Phenotype and Quality of Life in SLC13A5 Citrate Transporter Disorder
    Ozlu C, Adams R, Solidum RM, Cooper S, Best CR, Elacio J, Kavanaugh BC, Brown T, Nye K, Liu J, Bailey RM, Goodspeed K, Porter BE.
  • Age affects the brain transduction of intrathecal-delivered rAAV9 in mice
    Garza IT, Holmes S, Eller M, Schackmuth M, Bailey RM.
  • Preclinical use of a new scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency
    Presa M*, Bailey RM*, Ray S, Bailey L, Tata S, Murphy T, Combs H, Gray SJ, Lutz C.
  • An end-to-end approach for single-cell infrared absorption spectroscopy of bacterial inclusion bodies: from AFM-IR measurement to data interpretation of large sample sets
    Duverger W, Tsaka G, Khodaparast L, Khodaparast L, Louros N, Rousseau F, et al. 2024;22(1):406. Journal of Nanobiotechnology
  • CORDAX web server: an online platform for the prediction and 3D visualization of aggregation motifs in protein sequences
    Louros N, Rousseau F, Schymkowitz J. 2024;40(5):btae279. Bioinformatics.
  • Pharmacological modulation of septins restores calcium homeostasis and is neuroprotective in models of Alzheimer's disease
    Princen K, Van Dooren T, van Gorsel M, Louros N, Yang X, Dumbacher M, et al. 2024;384(6699):eadd6260. Science.
  • Modeling late-onset Alzheimer's disease neuropathology via direct neuronal reprogramming
    Sun Z, Kwon JS, Ren Y, Chen S, Walker CK, Lu X, Cates K, Karahan H, Sviben S, Fitzpatrick JAJ, Valdez C, Houlden H, Karch CM, Bateman RJ, Sato C, Mennerick SJ, Diamond MI, Kim J, Tanzi RE, Holtzman DM, Yoo AS. 10.1126/science.adl2992. Science
  • VCP regulates early tau seed amplification via specific cofactors
    Batra S, Vaquer-Alicea JI, Valdez C, Taylor SP, Manon VA, Vega AR, Kashmer OM, Kolay S, Lemoff A, Cairns NJ, White CL, Diamond MI. 10.21203/rs.3.rs-4307848/v1 Res Sq
  • DNAJB8 oligomerization is mediated by an aromatic-rich motif that is dispensable for substrate activity
    Ryder BD, Ustyantseva E, Boyer DR, Mendoza-Oliva A, Kuska MI, Wydorski PM, Macierzyńska P, Morgan N, Sawaya MR, Diamond MI, Kampinga HH, Joachimiak LA. 10.1016/j.str.2024.02.015. Structure
  • Docking for Molecules That Bind in a Symmetric Stack with SymDOCK
    Smith MS, Knight IS, Kormos RC, Pepe JG, Kunach P, Diamond MI, Shahmoradian SH, Irwin JJ, DeGrado WF, Shoichet BK. 10.1021/acs.jcim.3c01749. J Chem Inf Model
  • Hairpin trimer transition state of amyloid fibril
    Sari L, Bali S, Joachimiak LA, Lin MM. 10.1038/s41467-024-46446-x. Nat Commun
  • Multivalent coiled-coil interactions enable full-scale centrosome assembly and strength
    Rios MU, Bagnucka MA, Ryder BD, Ferreira Gomes B, Familiari NE, Yaguchi K, Amato M, Stachera WE, Joachimiak ŁA, Woodruff JB. 10.1083/jcb.202306142. J Cell Biol
  • J-domain proteins: From molecular mechanisms to diseases
    Marszalek J, De Los Rios P, Cyr D, Mayer MP, Adupa V, Andréasson C, Blatch GL, Braun JEA, Brodsky JL, Bukau B, Chapple JP, Conz C, Dementin S, Genevaux P, Genest O, Goloubinoff P, Gestwicki J, Hammond CM, Hines JK, Ishikawa K, Joachimiak LA, Kirstein J, Liberek K, Mokranjac D, Nillegoda N, Ramos CHI, Rebeaud M, Ron D, Rospert S, Sahi C, Shalgi R, Tomiczek B, Ushioda R, Ustyantseva E, Ye Y, Zylicz M, Kampinga HH. 10.1016/j.cstres.2023.12.002. Cell Stress Chaperones
  • Ensemble-based design of tau to inhibit aggregation while preserving biological activity
    Bali S, Singh R, Wydorski PM, Wosztyl A, Perez VA, Chen D, Rizo J, Joachimiak LA. 10.21203/rs.3.rs-3796916/v1. Res Sq
  • TorsinA is essential for neuronal nuclear pore complex localization and maturation
    Kim S, Phan S, Tran HT, Shaw TR, Shahmoradian SH, Ellisman MH, Veatch SL, Barmada SJ, Pappas SS, Dauer WT. 10.1038/s41556-024-01480-1. Nat Cell Biol
  • Detection of ATTR aggregates in the plasma of polyneuropathic patients with ATTR-V30M amyloidosis
    Pedretti R, Wang L, Grodin JL, Masri A, Kelly J, Saelices L. 10.1080/13506129.2024.2404073
  • Cryo-EM confirms a common fibril fold in the heart of four patients with ATTRwt amyloidosis
    Nguyen BA, Singh V, Afrin S, Singh P, Pekala M, Ahmed Y, Pedretti R, Canepa J, Lemoff A, Kluve-Beckerman B, Wydorski PM, Chhapra F, Saelices L. 10.1038/s42003-024-06588-6
  • Multi-organ structural homogeneity of amyloid fibrils in ATTRv-T60A amyloidosis patients, revealed by Cryo-EM
    Fernandez-Ramirez MDC, Nguyen BA, Singh V, Afrin S, Evers B, Basset P, Wang L, Pękała M, Ahmed Y, Singh P, Canepa J, Wosztyl A, Li Y, Saelices L. 10.1101/2024.05.14.594218
  • Amyloid fibril polymorphism in the heart of an ATTR amyloidosis patient with polyneuropathy attributed to the V122Δ variant
    Ahmed Y, Nguyen BA, Afrin S, Singh V, Evers B, Singh P, Pedretti R, Wang L, Bassett P, Del Carmen Fernandez-Ramirez M, Pekala M, Kluve-Beckerman B, Saelices L.
  • Circulating transthyretin and retinol binding protein 4 levels among middle-age V122I TTR carriers in the general population
    Hendren NS, De Lemos JA, Berry JD, Kozlitina J, Saelices L, Ji AX, Shao Z, Liu CF, Garg S, Farr MA, Drazner MH, Tang WHW, Grodin JL.
  • O-GlcNAc forces an α-synuclein amyloid strain with notably diminished seeding and pathology
    Balana AT, Mahul-Mellier AL, Nguyen BA, Horvath M, Javed A, Hard ER, Jasiqi Y, Singh P, Afrin S, Pedretti R, Singh V, Lee VM, Luk KC, Saelices L, Lashuel HA, Pratt MR.
  • Author Correction: O-GlcNAc forces an α-synuclein amyloid strain with notably diminished seeding and pathology
    Balana AT, Mahul-Mellier AL, Nguyen BA, Horvath M, Javed A, Hard ER, Jasiqi Y, Singh P, Afrin S, Pedretti R, Singh V, Lee VM, Luk KC, Saelices L, Lashuel HA, Pratt MR.
  • Structural polymorphism of amyloid fibrils in ATTR amyloidosis revealed by cryo-electron microscopy
    Nguyen BA, Singh V, Afrin S, Yakubovska A, Wang L, Ahmed Y, Pedretti R, Fernandez-Ramirez MDC, Singh P, Pękała M, Cabrera Hernandez LO, Kumar S, Lemoff A, Gonzalez-Prieto R, Sawaya MR, Eisenberg DS, Benson MD, Saelices L.
  • Condensate interfaces can accelerate protein aggregation
    Choi CH, Lee DSW, Sanders DW, Brangwynne CP.
• 2023
  • The AAA+ chaperone VCP disaggregates Tau fibrils and generates aggregate seeds in a cellular system
    Saha I, Yuste-Checa P, Da Silva Padilha M, Guo Q, Körner R, Holthusen H, Trinkaus VA, Dudanova I, Fernández-Busnadiego R, Baumeister W, Sanders DW, Gautam S, Diamond MI, Hartl FU, Hipp MS. Nat Commun. 2023 Feb 2;14(1):560. doi: 10.1038/s41467-023-36058-2. Nat Commun 36732333
  • DnaJC7 specifically regulates tau seeding
    Perez VA, Sanders DW, Mendoza-Oliva A, Stopschinski BE, Mullapudi V, White CL, Joachimiak LA, Diamond MI. Elife. 2023 Jun 30;12:e86936. doi: 10.7554/eLife.86936. Elife 37387473
  • Cryo-EM structure of Alzheimer's disease tau filaments with PET ligand MK-6240
    Kunach P, Vaquer-Alicea J, Smith MS, Hopewell R, Monistrol J, Moquin L, Therriault J, Tissot C, Rahmouni N, Massarweh G, Soucy JP, Guiot MC, Shoichet BK, Rosa-Neto P, Diamond MI, Shahmoradian SH. bioRxiv. 2023 Sep 22:2023.09.22.558671. doi: 10.1101/2023.09.22.558671. Preprint. bioRxiv 37790438
  • VCP increases or decreases tau seeding using specific cofactors
    Batra S, Vaquer-Alicea J 3rd, Manon VA, Kashmer OM, Lemoff A, Cairns NJ, White CL 3rd, Diamond MI. bioRxiv. 2023 Aug 30:2023.08.30.555637. doi: 10.1101/2023.08.30.555637. Preprint. bioRxiv 37693404
  • FTD-tau S320F mutation stabilizes local structure and allosterically promotes amyloid motif-dependent aggregation
    Chen D, Bali S, Singh R, Wosztyl A, Mullapudi V, Vaquer-Alicea J, Jayan P, Melhem S, Seelaar H, van Swieten JC, Diamond MI, Joachimiak LA. Nat Commun. 2023 Mar 23;14(1):1625. doi: 10.1038/s41467-023-37274-6. Nat Commun 36959205
  • Network of hotspot interactions cluster tau amyloid folds
    Mullapudi V, Vaquer-Alicea J, Bommareddy V, Vega AR, Ryder BD, White CL 3rd, Diamond MI, Joachimiak LA. Nat Commun. 2023 Feb 16;14(1):895. doi: 10.1038/s41467-023-36572-3. Nat Commun 36797278
  • Microglia as a cellular target of diclofenac therapy in Alzheimer's disease
    Stopschinski BE, Weideman RA, McMahan D, Jacob DA, Little BB, Chiang HS, Saez Calveras N, Stuve O. Ther Adv Neurol Disord. 2023 Feb 27;16:17562864231156674. doi: 10.1177/17562864231156674. eCollection 2023. Ther Adv Neurol Disord 36875711
  • Blood Markers in Relation to a History of Traumatic Brain Injury Across Stages of Cognitive Impairment in a Diverse Cohort
    LoBue C, Stopschinski BE, Saez Calveras N, Douglas PM, Huebinger R, Cullum CM, Hart J, Gonzales MM. J Alzheimers Dis. 2023 Dec 16. doi: 10.3233/JAD-w661027. J Alzheimers Dis. 38143366
  • Conformational inhibitors of protein aggregation
    Fernández Ramírez MDC, Afrin S, Saelices L. Curr Opin Strurt Biol. 2023 Dec;83:102700. doi: 10.1016/j.sbi.2023.102700. Epub 2023 Sep 15. Curr Opin Struct Biol 37717490
  • Disease-associated patterns of acetylation stabilize tau fibril formation
    Li L, Nguyen BA, Mullapudi V, Li Y, Saelices L, Joachimiak LA. Structure. 2023 Sep 7;31(9):1025-1037.e4. doi: 10.1016/j.str.2023.05.020. Epub 2023 Jun 21. Structure 37348495
  • Low complexity domains of the nucleocapsid protein of SARS-CoV-2 form amyloid fibrils
    Tayeb-Fligelman E, Bowler JT, Tai CE, Sawaya MR, Jiang YX, Garcia G Jr, Griner SL, Cheng X, Salwinski L, Lutter L, Seidler PM, Lu J, Rosenberg GM, Hou K, Abskharon R, Pan H, Zee CT, Boyer DR, Li Y, Anderson DH, Murray KA, Falcon G, Cascio D, Saelices L, Damoiseaux R, Arumugaswami V, Guo F, Eisenberg DS. Nat Commun. 2023 Apr 25;14(1):2379. doi: 10.1038/s41467-023-37865-3. Nat Commun 37185252
  • O-GlcNAc modification forces the formation of an α-Synuclein amyloid-strain with notably diminished seeding activity and pathology
    Balana AT, Mahul-Mellier AL, Nguyen BA, Horvath M, Javed A, Hard ER, Jasiqi Y, Singh P, Afrin S, Pedretti R, Singh V, Lee VM, Luk KC, Saelices L, Lashuel HA, Pratt MR. bioRxiv. 2023 Mar 7:2023.03.07.531573. doi: 10.1101/2023.03.07.531573. Preprint. bioRxiv 36945566
  • Editorial: Personalized medicine for neuromuscular disorders
    Bartoli M, Bailey RM, Meyer K, Barthélémy F. Front Cell Dev Biol. 2023 Nov 16;11:1329048. doi: 10.3389/fcell.2023.1329048. eCollection 2023. Front Cell Dev Biol 38033860
  • Saturation mutagenesis of α-synuclein reveals monomer fold that modulates aggregation
    Chlebowicz J, Russ W, Chen D, Vega A, Vernino S, White CL 3rd, Rizo J, Joachimiak LA, Diamond MI. Sci Adv. 2023 Oct 27;9(43):eadh3457. doi: 10.1126/sciadv.adh3457. Epub 2023 Oct 27. Sci Adv 37889966
  • Anti-tau antibodies targeting a conformation-dependent epitope selectively bind seeds
    Hitt BD, Gupta A, Singh R, Yang T, Beaver JD, Shang P, White CL 3rd, Joachimiak LA, Diamond MI. J Biol Chem2023 Nov;299(11):105252. doi: 10.1016/j.jbc.2023.105252. Epub 2023 Sep 14. J Biol Chem 37714465
  • A central helical hairpin in SPD-5 enables centrosome strength and assembly
    Rios MU, Ryder BD, Familiari N, Joachimiak ŁA, Woodruff JB. bioRxiv. 2023 May 18:2023.05.16.540868. doi: 10.1101/2023.05.16.540868. Preprint. bioRxiv 37292920
  • Dual domain recognition determines SARS-CoV-2 PLpro selectivity for human ISG15 and K48-linked di-ubiquitin
    Wydorski PM, Osipiuk J, Lanham BT, Tesar C, Endres M, Engle E, Jedrzejczak R, Mullapudi V, Michalska K, Fidelis K, Fushman D, Joachimiak A, Joachimiak LA. Nat Commun. 2023 Apr 25;14(1):2366. doi: 10.1038/s41467-023-38031-5. Nat Commun 37185902
  • Cross-Linking Mass Spectrometry Analysis of Metastable Compact Structures in Intrinsically Disordered Proteins
    Chen D, Joachimiak LA. Methods Mol Biol. 2023;2551:189-201. doi: 10.1007/978-1-0716-2597-2_13. Methods Mol Biol 36310204
  • Tau seeding without tauopathy
    LaCroix MS, Artikis E, Hitt BD, Beaver JD, Estill-Terpack SJ, Gleason K, Tamminga CA, Evers BM, White CL 3rd, Caughey B, Diamond MI. J Biol Chem. 2023 Dec 8:105545. doi: 10.1016/j.jbc.2023.105545. Online ahead of print. J Biol Chem 38072056
  • Travels with tau prions
    Diamond MI, Cytoskeleton (Hoboken). 2023 Nov 11. doi: 10.1002/cm.21806. Online ahead of print. Cytoskeleton (Hoboken) 37950616
  • Endogenous recapitulation of Alzheimer's disease neuropathology through human 3D direct neuronal reprogramming
    Sun Z, Kwon JS, Ren Y, Chen S, Cates K, Lu X, Walker CK, Karahan H, Sviben S, Fitzpatrick JAJ, Valdez C, Houlden H, Karch CM, Bateman RJ, Sato C, Mennerick SJ
  • Endogenous pathology in tauopathy mice progresses via brain networks
    Ramirez DMO, Whitesell JD, Bhagwat N, Thomas TL, Ajay AD, Nawaby A, Delatour B, Bay S, LaFaye P, Knox JE, Harris JA, Meeks JP, Diamond MI. bioRxiv. 2023 May 24:2023.05.23.541792. doi: 10.1101/2023.05.23.541792. Preprint. bioRxiv 37293074
• 2022
  • VCP suppresses proteopathic seeding in neurons
    Zhu J, Pittman S, Dhavale D, French R, Patterson JN, Kaleelurrrahuman MS, Sun Y, Vaquer-Alicea J, Maggiore G, Clemen CS, Buscher WJ, Bieschke J, Kotzbauer P, Ayala Y, Diamond MI, Davis AA, Weihl C. Mol Neurodegener. 2022 Apr 12;17(1):30. doi: 10.1186/s13024-022-00532-0. Mol Neurodegener 35414105
  • Clinical Reasoning: A 59-Year-Old Man With Thymoma and Constitutional Symptoms, Seizures, and Multifocal CNS Lesions
    Stopschinski BE, Fredrich S, Vernino S, Phillips L, Blackburn KM. Neurology. 2022 Sep 30:10.1212/WNL.0000000000201381. doi: 10.1212/WNL.0000000000201381. Online ahead of print. Neurology 36180243
  • Cognitive Decline in Older People with Multiple Sclerosis-A Narrative Review of the Literature
    Chiang HS, Khera A, Stopschinski BE, Stuve O, Hart J Jr, Kelley B, Nguyen T. Geriatrics (Basel). 2022 Jun 5;7(3):61. doi: 10.3390/geriatrics7030061. Geriatrics (Basel) 35735766
  • Update on Disease-Specific Biomarkers in Transthyretin Cardiac Amyloidosis
    Hood CJ, Hendren NS, Pedretti R, Roth LR, Saelices L, Grodin JL. Curr Heart Fail Rep. 2022 Oct;19(5):356-363. doi: 10.1007/s11897-022-00570-1. Epub 2022 Aug 5. Curr Heart Fail Rep 35930129
  • SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy
    Goodspeed K, Liu JS, Nye KL, Prasad S, Sadhu C, Tavakkoli F, Bilder DA, Minassian BA, Bailey RM. Genes (Basel). 2022 Sep 15;13(9):1655. doi: 10.3390/genes13091655. Genes (Basel) 36140822
  • Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies
    Goodspeed K, Bailey RM, Prasad S, Sadhu C, Cardenas JA, Holmay M, Bilder DA, Minassian BA. Front Neurol. 2022 Jun 21;13:805007. doi: 10.3389/fneur.2022.805007. eCollection 2022. Front Neurol 35847198
  • Development of a New DHFR-Based Destabilizing Domain with Enhanced Basal Turnover and Applicability in Mammalian Systems
    Nakahara E, Mullapudi V, Collier GE, Joachimiak LA, Hulleman JD. ACS Chem Biol. 2022 Oct 21;17(10):2877-w7589. doi: 10.1021/acschembio.2c00518. Epub 2022 Sep 19. ACS Chem Biol 36122928
  • The interactions that shape amyloid fibrils in disease
    Joachimiak LA. Structure. 2022 Aug 4;30(8):1045-1047. doi: 10.1016/j.str.2022.07.003. Structure 35931058
  • Seed-competent tau monomer initiates pathology in a tauopathy mouse model
    Mirbaha H, Chen D, Mullapudi V, Terpack SJ, White CL 3rd, Joachimiak LA, Diamond MI. J Biol Chem. 2022 Aug;298(8):102163. doi: 10.1016/j.jbc.2022.102163. Epub 2022 Jun 22. J Biol Chem 35750209
  • The Disordered Amino Terminus of the Circadian Enzyme Nocturnin Modulates Its NADP(H) Phosphatase Activity by Changing Protein Dynamics
    Wickramaratne AC, Li L, Hopkins JB, Joachimiak LA, Green CB. Biochemistry. 2022 May 10:10.1021/acs.biochem.2c00072. doi: 10.1021/acs.biochem.2c00072. Online ahead of print. Biochemistry 35535990
  • Modifying Amyloid Motif Aggregation Through Local Structure
    Bali S, Joachimiak LA. Methods Mol Biol. 2022;2340:343-w1006. doi: 10.1007/978-1-0716-1546-1_15. Methods Mol Biol 35167081
  • Chaperoning shape-shifting tau in disease
    Ryder BD, Wydorski PM, Hou Z, Joachimiak LA. Trends Biochem Sci. 2022 Apr;47(4):301-313. doi: 10.1016/j.tibs.2021.12.009. Epub 2022 Jan 17. Trends Biochem Sci 35045944
  • Tau seeding in cases of multiple sclerosis
    LaCroix MS, Mirbaha H, Shang P, Zandee S, Foong C, Prat A, White CL 3rd, Stuve O, Diamond MI. Acta Neuropathol Commun. 2022 Oct 11;10(1):146. doi: 10.1186/s40478-022-01444-2. Acta Neuropathol Commun 36221144
  • RNA induces unique tau strains and stabilizes Alzheimer's disease seeds
    Zwierzchowski-Zarate AN, Mendoza-Oliva A, Kashmer OM, Collazo-Lopez JE, White CL 3rd, Diamond MI. J Biol Chem. 2022 Aug;298(8):102132. doi: 10.1016/j.jbc.2022.102132. Epub 2022 Jun 11. J Biol Chem 35700826
  • The dual fates of exogenous tau seeds: Lysosomal clearance versus cytoplasmic amplification
    Kolay S, Vega AR, Dodd DA, Perez VA, Kashmer OM, White CL 3rd, Diamond MI. J Biol Chem. 2022 Jun;298(6):102014. doi: 10.1016/j.jbc.2022.102014. Epub 2022 May 5. J Biol Chem 35525272
  • Structural polymorphism of amyloid fibrils in cardiac ATTR amyloidosis revealed by cryo-electron microscopy
    Nguyen BA, Afrin S, Singh V, Ahmed Y, Pedretti R, Fernandez-Ramirez M, Benson MD, Sawaya RM, Cao Q, Boyer D, Pope A, Wydorski PM, Chhapra F, Eisenberg DS, Saelices L bioRxiv 2022 496949 2022.06.21
• 2021
  • Tau seeding in chronic traumatic encephalopathy parallels disease severity
    Kaufman SK, Svirsky S, Cherry JD, McKee AC, Diamond MI. Acta Neuropathol. 2021 Dec;142(6):951-960. doi: 10.1007/s00401-021-02373-5.
  • Anatomic survey of seeding in Alzheimer's disease brains reveals unexpected patterns
    Stopschinski BE, Del Tredici K, Estill-Terpack SJ, Ghebremdehin E, Yu FF, Braak H, Diamond MI. Acta Neuropathol Commun. 2021 Oct 11;9(1):164. doi: 10.1186/s40478-021-01255-x.
  • Deep learning reveals disease-specific signatures of white matter pathology in tauopathies
    Vega AR, Chkheidze R, Jarmale V, Shang P, Foong C, Diamond MI, White CL, Rajaram S, Acta Neuropathol Commun 2021 Oct 9 1 170
  • Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease
    Armao D, Bouldin TW, Bailey RM, Gray SJ. Ophthalmic Genet vol. 42,5 (2021): 600-603. doi:10.1080/13816810.2021.1923036
  • DnaJC7 binds natively folded structural elements in tau to inhibit amyloid formation
    Hou Z, Wydorski PM, Perez VA, Mendoza-Oliva A, Ryder BD, Mirbaha H, Kashmer O,Joachimiak, LA. Nat Commun. 2021 Sep 9;12(1):5338. doi: 10.1038/s41467-021-25635-y.
  • Biophysical properties of a tau seed
    Hou, Z, Chen, D, Ryder, BD, Joachimiak, L. Sci Rep 11, 13602 (2021). doi: 10.1038/s41598-021-93093-z
  • AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model
    Presa M, Bailey RM, Davis C, Murphy T, Cook J, Walls R, Wilpan H, Bogdanik L, Lenk GM, Burgess RW, Gray SJ, Lutz C. J Clin Invest. 2021 Jun 1;131(11):e137159. doi: 10.1172/JCI137159.
  • Ultrasensitive tau biosensor cells detect no seeding in Alzheimer's disease CSF
    Hitt BD, Vaquer-Alicea J, Manon VA, Beaver JD, Kashmer OM, Garcia JN, Diamond MI. Acta Neuropathol Commun. 2021 May 26;9(1):99. doi: 10.1186/s40478-021-01185-8.
  • Gene Transfer Therapy for Neurodevelopmental Disorders
    Ozlu C, Bailey RM, Sinnett S, Goodspeed KD. Dev Neurosci. 2021 ;43(3-4):230-w660. doi: 10.1159/000515434.
  • Tau strains shape disease
    Vaquer-Alicea, J, Diamond, MI, Joachimiak, L. Acta Neuropathol 2021. doi: 10.1007/s00401-021-02301-7.
  • Regulatory inter-domain interactions influence Hsp70 recruitment to the DnaJB8 chaperone
    Ryder, BD, Matlahov, I, Bali, S, Vaquer-Alicea, J, van der Wel, PCA, Joachimiak, L. Nat Commun 2021 12, 946. doi:10.1038/s41467-021-21147-x
  • Bringing bad protiens back into the fold
  • Ultrasensitive tau biosensor cells detect no seeding in Alzheimer's disease CSF
    Hitt BD, Vaquer-Alicea J, Manon VA, Beaver JD, Kashmer OM, Garcia JN, Diamond MI., Acta Neuropathol Commun. 2021 May 26;9(1):99. doi: 10.1186/s40478-021-01185-8. Acta Neuropathol Commun 34039426
  • Cryo-EM structures of hIAPP fibrils seeded by patient-extracted fibrils reveal new polymorphs and conserved fibril cores
    Cao Q, Boyer DR, Sawaya MR, Abskharon R, Saelices L, Nguyen BA, Lu J, Murray KA, Kandeel F, Eisenberg DS. Nat Struct Mol Biol. 2021 Sep;28(9):724-730. doi: 10.1038/s41594-021-00646-x. Epub 2021 Sep 9. Nat Struct Mol Biol 34518699
  • Inhibition of amyloid formation of the Nucleoprotein of SARS-CoV-2
    Tayeb-Fligelman E, Cheng X, Tai C, Bowler JT, Griner S, Sawaya MR, Seidler PM, Jiang YX, Lu J, Rosenberg GM, Salwinski L, Abskharon R, Zee CT, Hou K, Li Y, Boyer DR, Murray KA, Falcon G, Anderson DH, Cascio D, Saelices L, Damoiseaux R, Guo F, Eisenberg DS., bioRxiv. 2021 Mar 18:2021.03.05.434000. doi: 10.1101/2021.03.05.434000. Preprint. bioRxiv 33688654
  • Nitrous Oxide Enhances Focused Ultrasound Mediated Delivery of Viral Gene Therapy
    Shah BR, Bailey RM, Youssef I, Holmes SK, Marckx A, Estill-Terpac SJ, Diamond M, Chopra R., bioRxiv. Cold Spring Harbor Laboratory. doi: 10.1101/2021.07.11.451978.Nature Gene Therapy (Under Review) Mol Neurodegener. 2022 Apr 12;17(1):30. doi: 10.1186/s13024-022-00532-0. Mol Neurodegener 35414105
• 2020
  • Alzheimer's disease risk modifier genes do not affect tau aggregate uptake, seeding or maintenance in cell models
    Kolay S, Diamond MI. FEBS Open Bio. 2020 Sep;10(9):1912-w5020. doi: 10.1002/2211-5463.12928.
  • Comparison of high-dose intracisterna magna and lumbar puncture intrathecal delivery of AAV9 in mice to treat neuropathies
    Bailey RM, Rozenberg A, Gray SJ. Brain Research vol. 1739 (2020): 146832. doi:10.1016/j.brainres.2020.146832.
  • A synthetic heparinoid blocks Tau aggregate cell uptake and amplification
    Stopschinski BE, Thomas TL, Nadji S, Darvish E, Fan L, Holmes BB, Modi AR, Finnell JG, Kashmer OM, Estill-Terpack S, Mirbaha H, Luu HS, Diamond MI. J Biol Chem. 2020 Mar 6;295(10):2974-w7583. doi: 10.1074/jbc.RA119.010353.
  • The inhibition of cellular toxicity of amyloid-β by dissociated transthyretin
    Cao Q, Anderson DH, Liang WY, Chou J, Saelices L J Biol Chem 2020; 295, 12015-14024. doi: 10.1074/jbc.RA120.013440
  • Protein that can be toxic in the heart and nerves may help prevent Alzheimer's
  • Fate and propagation of endogenously formed Tau aggregates in neuronal cells
    Chastagner P, Loria F, Vargas JY, Tois J, I Diamond M, Okafo G, Brou C, Zurzolo C. EMBO Mol Med. 2020 Dec 7;12(12):e12025. doi: 10.15252/emmm.202012025. Epub 2020 Nov 12. EMBO Mol Med 33179866
  • Site-Specific Hyperphosphorylation Inhibits, Rather than Promotes, Tau Fibrillization, Seeding Capacity, and Its Microtubule Binding
    Haj-Yahya M, Gopinath P, Rajasekhar K, Mirbaha H, Diamond MI, Lashuel HA. Angew Chem Int Ed Engl. 2020 Mar 2;59(10):4059-4067. doi: 10.1002/anie.201913001. Epub 2020 Jan 28. Angew Chem Int Ed Engl 31863676
• 2019
  • Propagation of Protein Aggregation in Neurodegenerative Diseases
    Vaquer-Alicea J, Diamond MI. Annu Rev Biochem. 2019 Jun 20;88:785-810. doi: 10.1146/annurev-biochem-061516-045049.
  • Tau local structure shields an amyloid-forming motif and controls aggregation propensity
    Chen D, Drombosky KW, Hou Z, Sari L, Kashmer OM, Ryder BD, Perez VA, Woodard DR, Lin MM, Diamond MI, Joachimiak LA. Nat Commun. 2019 Jun 7;10(1):2493. doi: 10.1038/s41467-019-10355-1.
  • Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens
    Armao D, Bouldin TW, Bailey RM, Hooper JE, Bharucha DX, Gray SJ. Orphanet J Rare Dis. 2019 Feb 1;14(1):27. doi: 10.1186/s13023-018-0957-5. Orphanet J Rare Dis 30709364
  • The Chaperonin TRiC/CCT Associates with Prefoldin through a Conserved Electrostatic Interface Essential for Cellular Proteostasis
    Gestaut D, Roh SH, Ma B, Pintilie G, Joachimiak LA, Leitner A, Walzthoeni T, Aebersold R, Chiu W, Frydman J. Cell. 2019 Apr 18;177(3):751-765.e15. doi: 10.1016/j.cell.2019.03.012. Epub 2019 Apr 4. Cell 30955883
  • Parkinson's disease and multiple system atrophy have distinct α-synuclein seed characteristics
    Yamasaki TR, Holmes BB, Furman JL, Dhavale DD, Su BW, Song ES, Cairns NJ, Kotzbauer PT, Diamond MI. J Biol Chem. 2019 Jan 18;294(3):1045-1058. doi: 10.1074/jbc.RA118.004471. Epub 2018 Nov 26. J Biol Chem 30478174
• 2018
  • Tau monomer encodes strains
    Sharma A, Thomas TL, Woodard DR, Kashmer OM, Diamond, MI. eLife vol. 7 e37813. 11 Dec. 2018, doi:10.7554/eLife.37813.
  • Tau seeding activity begins in the transentorhinal/entorhinal regions and anticipates phospho-tau pathology in Alzheimer's disease and PART
    Kaufman SK, Del Tredici K, Thomas TL, Braak H, Diamond MI. Acta Neuropathol. 2018 Jul;136(1):57-67. doi: 10.1007/s00401-018-w5055-6.
  • Inert and seed-competent tau monomers suggest structural origins of aggregation
    Mirbaha H, Chen D, Morazova OA, Ruff KM, Sharma AM, Liu X, Goodarzi M, Pappu RV, Colby DW, Mirzaei H, Joachimiak LA, Diamond MI. Elife. 2018 Jul 10;7. pii: e36584. doi: 10.7554/eLife.36584.
  • The 'Big Bang' of Alzheimer's Scientists ID genesis of disease, focus efforts on deadly shape-shifting tau protein
  • Specific glycosaminoglycan chain length and sulfation patterns are required for cell uptake of tau versus α-synuclein and β-amyloid aggregates
    Stopschinski BE, Holmes BB, Miller GM, Manon VA, Vaquer-Alicea J, Prueitt WL, Hsieh-Wilson LC, Diamond MI. J Biol Chem. 2018 Jul 6;293(27):10826-10840. doi: 10.1074/jbc.RA117.000378.
  • Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy
    Bailey RM, Armao D, Nagabhushan Kalburgi S, Gray SJ. Mol Ther Methods Clin Dev. 2018 Feb 15;9:160-w501. doi: 10.1016/j.omtm.2018.02.005.
• 2017
  • FRET and Flow Cytometry Assays to Measure Proteopathic Seeding Activity in Biological Samples
    Furman JL, Diamond MI. Methods Mol Biol. 2017;1523:349-w1009.
• 2016
  • Tau Prion Strains Dictate Patterns of Cell Pathology, Progression Rate, and Regional Vulnerability In Vivo
    Kaufman SK, Sanders DW, Thomas TL, Ruchinskas AJ, Vaquer-Alicea J, Sharma AM, Miller TM, Diamond MI. Neuron. 2016 Nov 23;92(4):796-812. doi: 10.1016/j.neuron.2016.09.055.
  • Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease
    Armao D, Bailey RM, Bouldin TW, Kim Y, Gray SJ. Clin Autonom Res 2016 Aug;26(4):307-w33. doi: 10.1007/s10286-016-0365-7.
• 2015
  • Sensitive Detection of Proteopathic Seeding Activity with FRET Flow Cytometry
    Furman JL, Holmes BB, Diamond MI. J Vis Exp. 2015 Dec 8;(106):e53205. doi: 10.3791/53205.
  • Photo-activatable Cre recombinase regulates gene expression in vivo
    Schindler SE, McCall JG, Yan P, Hyrc KL, Li M, Tucker CL, Lee JM, Bruchas MR, Diamond MI. Sci Rep. 2015 Sep 9;5:13627. doi: 10.1038/srep13627.
  • Distinct Therapeutic Mechanisms of Tau Antibodies: Promoting Microglial Clearance Versus Blocking Neuronal Uptake
    Funk KE, Mirbaha H, Jiang H, Holtzman DM, Diamond MI. J Biol Chem. 2015 Aug 28;290(35):21652-62. doi: 10.1074/jbc.M115.657924.
  • Tau Trimers Are the Minimal Propagation Unit Spontaneously Internalized to Seed Intracellular Aggregation
    Mirbaha H, Holmes BB, Sanders DW, Bieschke J, Diamond MI. J Biol Chem. 2015 Jun 12;290(24):14893-903. doi: 10.1074/jbc.M115.652693.