Search Results - "Pappas SS"

Loss of Nocturnin increases neuronal viability in oxidative stress conditions.

Authors: Ojo AE Olivas-Rasmussen C Pappas SS et al.

Source: Frontiers in neuroscience [Front Neurosci] 2025 Nov 19; Vol. 19, pp. 1632251. Date of Electronic Publication: 2025 Nov 19 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE

Altair-dvOPM: an open-access platform for large-field three-dimensional tissue imaging.

Authors: Ngo T Faiyazuddin M Nguyen TD et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 May 12. Date of Electronic Publication: 2026 May 12.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Increased intrinsic membrane excitability is associated with olivary hypertrophy in spinocerebellar ataxia type 1.

Authors: Morrison LM Huang H Handler HP et al.

Source: Human molecular genetics [Hum Mol Genet] 2024 Dec 06; Vol. 33 (24), pp. 2159-2176.

Publication Type: Journal Article

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.

Authors: Yellajoshyula D Rogers AE Kim AJ et al.

Source: Human molecular genetics [Hum Mol Genet] 2022 Mar 31; Vol. 31 (7), pp. 1096-1104.

Publication Type: Journal Article

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Oligodendrocyte and Extracellular Matrix Contributions to Central Nervous System Motor Function: Implications for Dystonia.

Authors: Yellajoshyula D Pappas SS Dauer WT

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Mar; Vol. 37 (3), pp. 456-463. Date of Electronic Publication: 2022 Jan 06.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Review

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

TorsinA is essential for neuronal nuclear pore complex localization and maturation.

Authors: Kim S Phan S Tran HT et al.

Source: Nature cell biology [Nat Cell Biol] 2024 Sep; Vol. 26 (9), pp. 1482-1495. Date of Electronic Publication: 2024 Aug 08.

Publication Type: Journal Article

Journal Info: Publisher: Macmillan Magazines Ltd Country of Publication: England NLM ID: 100890575 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4679 (Electronic) Linking ISSN: 14657392 NLM ISO Abbreviation: Nat Cell Biol Subsets: MEDLINE

TorsinA restoration in a mouse model identifies a critical therapeutic window for DYT1 dystonia.

Authors: Li J Levin DS Kim AJ et al.

Source: The Journal of clinical investigation [J Clin Invest] 2021 Mar 15; Vol. 131 (6).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Increased intrinsic membrane excitability is associated with hypertrophic olivary degeneration in spinocerebellar ataxia type 1.

Authors: Morrison LM Huang H Handler HP et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2023 Oct 23. Date of Electronic Publication: 2023 Oct 23.

Publication Type: Preprint; Journal Article

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

TorsinA is essential for the timing and localization of neuronal nuclear pore complex biogenesis.

Authors: Kim S Phan S Shaw TR et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2023 Apr 27. Date of Electronic Publication: 2023 Apr 27.

Publication Type: Preprint; Journal Article

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

TorsinA dysfunction causes persistent neuronal nuclear pore defects.

Authors: Pappas SS Liang CC Kim S et al.

Source: Human molecular genetics [Hum Mol Genet] 2018 Feb 01; Vol. 27 (3), pp. 407-420.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Genetic evidence of aberrant striatal synaptic maturation and secretory pathway alteration in a dystonia mouse model.

Authors: Yellajoshyula D Opeyemi S Dauer WT et al.

Source: Dystonia (Lausanne, Switzerland) [Dystonia] 2022; Vol. 1. Date of Electronic Publication: 2022 Dec 14.

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 9918486684106676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2813-2106 (Electronic) Linking ISSN: 28132106 NLM ISO Abbreviation: Dystonia Subsets: PubMed not MEDLINE

THAP1 modulates oligodendrocyte maturation by regulating ECM degradation in lysosomes.

Authors: Yellajoshyula D Pappas SS Rogers AE et al.

Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2021 Aug 03; Vol. 118 (31).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

CNS critical periods: implications for dystonia and other neurodevelopmental disorders.

Authors: Li J Kim S Pappas SS et al.

Source: JCI insight [JCI Insight] 2021 Feb 22; Vol. 6 (4). Date of Electronic Publication: 2021 Feb 22.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Comparison of the D2 receptor regulation and neurotoxicant susceptibility of nigrostriatal dopamine neurons in wild-type and CB1/CB2 receptor knockout mice.

Authors: Simkins TJ Janis KL McClure AK et al.

Source: Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology [J Neuroimmune Pharmacol] 2012 Sep; Vol. 7 (3), pp. 533-8. Date of Electronic Publication: 2012 May 27.

Publication Type: Comparative Study; Journal Article

Journal Info: Publisher: Springer Science + Business Media Country of Publication: United States NLM ID: 101256586 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-1904 (Electronic) Linking ISSN: 15571890 NLM ISO Abbreviation: J Neuroimmune Pharmacol Subsets: MEDLINE

TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models.

Authors: Li J Liang CC Pappas SS et al.

Source: ELife [Elife] 2020 Mar 23; Vol. 9. Date of Electronic Publication: 2020 Mar 23.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

A cell autonomous torsinA requirement for cholinergic neuron survival and motor control.

Authors: Pappas SS Li J LeWitt TM et al.

Source: ELife [Elife] 2018 Aug 17; Vol. 7. Date of Electronic Publication: 2018 Aug 17.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Inherited dystonias: clinical features and molecular pathways.

Authors: Weisheit CE Pappas SS Dauer WT

Source: Handbook of clinical neurology [Handb Clin Neurol] 2018; Vol. 147, pp. 241-254.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0166161 Publication Model: Print Cited Medium: Internet ISSN: 0072-9752 (Print) Linking ISSN: 00729752 NLM ISO Abbreviation: Handb Clin Neurol Subsets: MEDLINE

Forebrain knock-out of torsinA reduces striatal free-water and impairs whole-brain functional connectivity in a symptomatic mouse model of DYT1 dystonia.

Authors: DeSimone JC Pappas SS Febo M et al.

Source: Neurobiology of disease [Neurobiol Dis] 2017 Oct; Vol. 106, pp. 124-132. Date of Electronic Publication: 2017 Jul 01.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.

Authors: Yellajoshyula D Liang CC Pappas SS et al.

Source: Developmental cell [Dev Cell] 2017 Jul 10; Vol. 42 (1), pp. 52-67.e4.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101120028 Publication Model: Print Cited Medium: Internet ISSN: 1878-1551 (Electronic) Linking ISSN: 15345807 NLM ISO Abbreviation: Dev Cell Subsets: MEDLINE

Eighth International Chorea-Acanthocytosis Symposium: Summary of Workshop Discussion and Action Points.

Authors: Pappas SS Bonifacino J Danek A et al.

Source: Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2017 Feb 15; Vol. 7, pp. 428. Date of Electronic Publication: 2017 Feb 15 (Print Publication: 2017).

Publication Type: Journal Article

Journal Info: Publisher: Ubiquity Press Country of Publication: England NLM ID: 101569493 Publication Model: eCollection Cited Medium: Print ISSN: 2160-8288 (Print) Linking ISSN: 21608288 NLM ISO Abbreviation: Tremor Other Hyperkinet Mov (N Y) Subsets: PubMed not MEDLINE