Search Results - "Sam FS"

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.

Mannose supplementation in PMM2-CDG.

Authors: Taday, Roman Park, Julien H. Grüneberg, Marianne et al.

Source: Orphanet Journal of Rare Diseases. 8/11/2021, Vol. 16 Issue 1, p1-3. 3p.

A welding defect detection model based on a shape-aware network.

Authors: Shi, Lukui Zu, Haoran Tai, Jikai et al.

Source: Journal of Intelligent & Fuzzy Systems; 2022, Vol. 43 Issue 5, p6147-6162, 16p

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.

Authors: Cirnigliaro, Lara Pettinato, Fabio Valle, Maria Stella et al.

Source: Orphanet Journal of Rare Diseases. 2/2/2024, Vol. 19 Issue 1, p1-11. 11p.

Immunological mechanisms and therapeutic advances in diabetic neuropathy.

Authors: Jiang S Zhang L Zhao L et al.

Source: Journal of neurology [J Neurol] 2026 Jan 29; Vol. 273 (2), pp. 105. Date of Electronic Publication: 2026 Jan 29.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

A new Caenorhabditis elegans model to study copper toxicity in Wilson disease.

Authors: Catalano, Federico O'Brien, Thomas J. Mekhova, Aleksandra A. et al.

Source: Traffic. Jan2024, Vol. 25 Issue 1, p1-20. 20p.

Congenital disorders of glycosylation (CDG): state of the art in 2022.

Authors: Francisco, Rita Brasil, Sandra Poejo, Joana et al.

Source: Orphanet Journal of Rare Diseases. 10/19/2023, Vol. 18 Issue 1, p1-9. 9p.

Manipulating mannose metabolism as a potential anticancer strategy.

Authors: Harada, Yoichiro¹ (AUTHOR) yoharada3@oici.jp

Source: FEBS Journal. Apr2025, Vol. 292 Issue 7, p1505-1519. 15p.

Insights into the mechanisms, regulation, and therapeutic implications of extracellular matrix stiffness in cancer.

Authors: Zhang, Ximo Al‐Danakh, Abdullah Zhu, Xinqing et al.

Source: Bioengineering & Translational Medicine. Jan2025, Vol. 10 Issue 1, p1-18. 18p.

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

Authors: Granjo, Pedro Pascoal, Carlota Gallego, Diana et al.

Source: Orphanet Journal of Rare Diseases. 11/1/2024, Vol. 19 Issue 1, p1-17. 17p.

Three-dimensional cell culture systems in drug development studies.

Authors: ÇALIŞIR, Fersu Gül Asya BÜTÜNER, Bilge DEBELEÇ

Source: Journal of Research in Pharmacy. 2024, Vol. 28 Issue 6, p2236-2242. 7p.

Laboratory and physiological aspects of substitute metazoan models for in vivo pharmacotoxicological analysis.

Authors: Ferreira PMP Ramos CLS Filho JIAB et al.

Source: Naunyn-Schmiedeberg's archives of pharmacology [Naunyn Schmiedebergs Arch Pharmacol] 2025 Feb; Vol. 398 (2), pp. 1315-1339. Date of Electronic Publication: 2024 Sep 19.

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

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0326264 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1912 (Electronic) Linking ISSN: 00281298 NLM ISO Abbreviation: Naunyn Schmiedebergs Arch Pharmacol Subsets: MEDLINE

Three-dimensional breast cancer tumor models based on natural hydrogels: a review.

Alternate Title: 基于天然水凝胶的三维乳腺癌肿瘤模型研究进展.

Authors: Shu, Yan Li, Bing Ma, Hailin et al.

Source: Journal of Zhejiang University-SCIENCE B (Biomedicine & Biotechnology). Sep2024, Vol. 25 Issue 9, p736-755. 20p.

Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities.

Authors: Cheff, Dorian M. Muotri, Alysson R. Stockwell, Brent R. et al.

Source: Orphanet Journal of Rare Diseases. 10/23/2021, Vol. 16 Issue 1, p1-15. 15p.

基于 CiteSpace 及 VOSviewer 的乳腺癌微环境 研究热点可视化分析.

Alternate Title: Visualization Analysis of Research Hotspots of Breast Cancer Microenvironment Based on CiteSpace and VOSviewer.

Authors: 方宇航 谢伊 杨舒涵 et al.

Source: Cancer Research on Prevention & Treatment. 2024, Vol. 51 Issue 6, p448-454. 7p.

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG.

Authors: Iyer S Sam FS DiPrimio N et al.

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

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

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

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

Protective Effects of Novel Substituted Triazinoindole Inhibitors of Aldose Reductase and Epalrestat in Neuron-like PC12 Cells and BV2 Rodent Microglial Cells Exposed to Toxic Models of Oxidative Stress: Comparison with the Pyridoindole Antioxidant Stobadine

Authors: Elmazoglu, Zubeyir Prnova, Marta Soltesova Stefek, Milan et al.

Source: Neurotoxicity Research. Jun2021, Vol. 39 Issue 3, p588-597. 10p.

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.

Authors: Witters, Peter Edmondson, Andrew C. Lam, Christina et al.

Source: Orphanet Journal of Rare Diseases. 2/25/2021, Vol. 16 Issue 1, p1-5. 5p.

Congenital disorders of glycosylation: narration of a story through its patents.

Authors: Monticelli, Maria D'Onofrio, Tania Jaeken, Jaak et al.

Source: Orphanet Journal of Rare Diseases. 8/29/2023, Vol. 18 Issue 1, p1-19. 19p.