Results 71 to 80 of about 792 (148)

Sugar-Recognizing Ubiquitin Ligases: Action Mechanisms and Physiology [PDF]

, 2019
F-box proteins, the substrate recognition subunits of SKP1–CUL1–F-box protein (SCF) E3 ubiquitin ligase complexes, play crucial roles in various cellular events mediated by ubiquitination.
Keiji Tanaka, Tsunehiro Mizushima, Yukiko Yoshida   +2 more
core   +1 more source

The case for open science: rare diseases. [PDF]

, 2020
The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community.
Avillach, Paul, Baynam, Gareth, Cederroth, Helene, Gahl, William A, Goodwin, Rebecca M, Groft, Stephen C, Haendel, Melissa A, Hansson, Mats G, Harris, Nomi L, Huser, Vojtech, Mascalzoni, Deborah, McMurry, Julie A, Might, Matthew, Mons, Barend, Nellaker, Christoffer, Paltoo, Dina N, Pevsner, Jonathan, Posada, Manuel, Robinson, Peter N, Rockett-Frase, Alison P, Roos, Marco, Rubinstein, Tamar B, Rubinstein, Yaffa R, Taruscio, Domenica, van Enckevort, Esther   +24 more
core   +1 more source

Exploring the Role of Transcription Factor Nrf1 in Autophagy and Inhibiting the Nrf1 Bounce-Back Response [PDF]

Cells exposed to proteotoxic stress invoke adaptive responses aimed at restoring proteostasis. Our previous studies have established a firm role for the transcription factor Nuclear factor-erythroid derived-2-related factor-1 (Nrf1) in responding to ...
Ward, Madison A
core   +2 more sources

2022 SOARS Conference Program [PDF]

, 2022
Program for the 2022 Showcase of Osprey Advancements in Research and Scholarship (SOARS)
University of North Florida
core   +1 more source

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

An in vivo small molecule screen to identify therapeutics for NGLY1 deficiency

, 2020
Presentation of poster 1993A at TAGC 2020 Online. Files include a PDF of the poster (TAGC_2020_Poster_Hope_Final.pdf)
Hope, Kevin A., Peterson, Randall T., Chow, Clement Y.   +2 more
openaire   +1 more source

a quantitative study using the brief resilience coping scale (BRCS) [PDF]

Funding Information: We would like to express our deepest gratitude for the invaluable financial support received from collective donations made by families affected by CDG and professionals in the field.
dos Reis Ferreira, Vanessa, Gomes, Ana Isabel, Granjo, Pedro, Poejo, Joana   +3 more
core   +1 more source

Incorporating standardised drift-tube ion mobility to enhance non-targeted assessment of the wine metabolome (LC×IM-MS) [PDF]

, 2017
Liquid chromatography with drift-tube ion mobility spectrometry-mass spectrometry (LCxIM-MS) is emerging as a powerful addition to existing LC-MS workflows for addressing a diverse range of metabolomics-related questions [1,2].
Causon, Tim, Petrusheva, Dragana, Bogeva, Elena, Ivanova, Violeta, Hann, Stephan   +4 more
core  

Studium dědičných poruch glykosylace na biochemické a molekulární úrovni. [PDF]

, 2016
Dědičné poruchy glykosylace (Congenital disorders of glycosylation, CDG) jsou rychle rostoucí skupinou vzácných dědičných metabolických poruch s prevalencí až 1:20 000, které jsou zapříčiněny genetickými defekty narušujícími proces glykosylace, tj ...
Ondrušková, Nina
core   +3 more sources

Additional file 1 of NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

Additional file 1. Supplementary Tables 1–3 and Supplementary Figures 1–3.
Stanclift, Caroline R., Dwight, Selina S., Lee, Kevin, Eijkenboom, Quirine L., Wilsey, Matt, Wilsey, Kristen, Kobayashi, Erica Sanford, Tong, Sandra, Bainbridge, Matthew N.   +8 more
openaire   +1 more source