Search Results - "Rodriguez TP"

Natural SEL1L variants rescue a model of NGLY1 deficiency and modify ERAD function and proteasome sensitivity.

Authors: Tu'ifua, Travis K. Chow, Clement Y.

Source: PLoS Genetics. 8/7/2025, Vol. 21 Issue 8, p1-16. 16p.

A drug repurposing screen reveals dopamine signaling as a critical pathway underlying potential therapeutics for the rare disease DPAGT1-CDG.

Authors: Dalton, Hans M. Young, Naomi J. Berman, Alexys R. et al.

Source: PLoS Genetics. 10/28/2024, Vol. 20 Issue 10, p1-26. 26p.

Regulation of synaptic function and lipid metabolism.

Authors: Zhang T Yin Y Xia X et al.

Source: Neural regeneration research [Neural Regen Res] 2026 Mar 01; Vol. 21 (3), pp. 1037-1057. Date of Electronic Publication: 2025 Apr 29.

Publication Type: Journal Article

Journal Info: Publisher: Wolters Kluwer Health, Medknow Country of Publication: India NLM ID: 101316351 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1673-5374 (Print) Linking ISSN: 16735374 NLM ISO Abbreviation: Neural Regen Res Subsets: PubMed not MEDLINE

High-throughput behavioural phenotyping of 25 C. elegans disease models including patient-specific mutations.

Authors: O'Brien, Thomas J. Navarro, Eneko P. Barroso, Consuelo et al.

Source: BMC Biology. 9/26/2025, Vol. 23 Issue 1, p1-20. 20p.

Mutations in nucleotide metabolism genes bypass proteasome defects in png-1/NGLY1-deficient Caenorhabditis elegans.

Authors: Yanagi, Katherine S. Jochim, Briar Kunjo, Sheikh Omar et al.

Source: PLoS Biology. 7/11/2024, Vol. 22 Issue 7, p1-25. 25p.

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency.

Authors: Hope, Kevin A. Berman, Alexys R. Peterson, Randall T. et al.

Source: PLoS Genetics. 6/2/2022, Vol. 18 Issue 6, p1-20. 20p.

Cytosolic O-GlcNAcylation and PNG1 maintain Drosophila gut homeostasis by regulating proliferation and apoptosis.

Authors: Na, Hyun-jin Abramowitz, Lara K. Hanover, John A.

Source: PLoS Genetics. 3/16/2022, Vol. 18 Issue 3, p1-23. 23p.

NGLY1 deficiency - clinical features and therapeutic strategy.

Authors: Fujihira H Hirayama H Suzuki T

Source: Journal of human genetics [J Hum Genet] 2025 Jul 29. Date of Electronic Publication: 2025 Jul 29.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

Glial control of sphingolipid levels sculpts diurnal remodeling in a circadian circuit.

Authors: Vaughen JP Theisen E Rivas-Serna IM et al.

Source: Neuron [Neuron] 2022 Oct 05; Vol. 110 (19), pp. 3186-3205.e7. Date of Electronic Publication: 2022 Aug 11.

Publication Type: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; 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: 8809320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: MEDLINE

A conserved role for AMP-activated protein kinase in NGLY1 deficiency.

Authors: Han, Seung Yeop Pandey, Ashutosh Moore, Tereza et al.

Source: PLoS Genetics. 12/14/2020, Vol. 16 Issue 12, p1-25. 25p.

Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.

Authors: Asahina, Makoto Fujinawa, Reiko Hirayama, Hiroto et al.

Source: Molecular Brain. 8/19/2021, Vol. 14 Issue 1, p1-12. 12p.

Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches.

Authors: Iyer S Mast JD Tsang H et al.

Source: Disease models & mechanisms [Dis Model Mech] 2019 Nov 04; Vol. 12 (11). Date of Electronic Publication: 2019 Nov 04.

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

Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

Off‐target inhibition of NGLY1 by the polycaspase inhibitor Z‐VAD‐fmk induces cellular autophagy.

Authors: Needs, Sarah H. Bootman, Martin D. Grotzke, Jeff E. et al.

Source: FEBS Journal. Jun2022, Vol. 289 Issue 11, p3115-3131. 17p.

Reconsolidation and the Fate of Consolidated Memories.

Authors: BEVILAQUA, LIA R. MEDINA, JORGE H. IZQUIERDO, IVÁN et al.

Source: Neurotoxicity Research. 2008, Vol. 14 Issue 4, p353-358. 6p.

Functional profiling and visualization of the sphingolipid metabolic network in vivo.

Authors: Tzou FY Hong CL Chen KH et al.

Source: EMBO reports [EMBO Rep] 2025 Dec; Vol. 26 (24), pp. 6380-6417. Date of Electronic Publication: 2025 Nov 10.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: MEDLINE

Brain lipidomic profiles of sleep enhancement through co-administration of alprazolam and CGS21680.

Authors: Zhang Y Xia X Jin Q et al.

Source: FEBS letters [FEBS Lett] 2025 Jun; Vol. 599 (11), pp. 1556-1568. Date of Electronic Publication: 2025 Feb 17.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Ltd Country of Publication: England NLM ID: 0155157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3468 (Electronic) Linking ISSN: 00145793 NLM ISO Abbreviation: FEBS Lett Subsets: MEDLINE

Deficiency of N-glycanase 1 perturbs neurogenesis and cerebral development modeled by human organoids.

Authors: Lin VJT Hu J Zolekar A et al.

Source: Cell death & disease [Cell Death Dis] 2022 Mar 24; Vol. 13 (3), pp. 262. Date of Electronic Publication: 2022 Mar 24.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101524092 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-4889 (Electronic) NLM ISO Abbreviation: Cell Death Dis Subsets: MEDLINE

Lipids shape brain function through ion channel and receptor modulations: physiological mechanisms and clinical perspectives.

Authors: Incontro S Musella ML Sammari M et al.

Source: Physiological reviews [Physiol Rev] 2025 Jan 01; Vol. 105 (1), pp. 137-207. Date of Electronic Publication: 2024 Jul 11.

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

Journal Info: Publisher: American Physiological Society Country of Publication: United States NLM ID: 0231714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1210 (Electronic) Linking ISSN: 00319333 NLM ISO Abbreviation: Physiol Rev Subsets: MEDLINE

Gut barrier defects, intestinal immune hyperactivation and enhanced lipid catabolism drive lethality in NGLY1-deficient Drosophila.

Authors: Pandey A Galeone A Han SY et al.

Source: Nature communications [Nat Commun] 2023 Sep 13; Vol. 14 (1), pp. 5667. Date of Electronic Publication: 2023 Sep 13.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE