Results 81 to 90 of about 811 (146)

A Rare Case: NGLY1 Deficiency and Diaphragmatic Eventration

Turkish Archives of Pediatrics
Cite this article as: Pekal AB, Şevik R, Yüzbaşı BK, Güngör O, Karaer K. A rare case: NGLY1 deficiency and diaphragmatic eventration. Turk Arch Pediatr.Published online November 26, 2025.
Ayşe Büşra Pekal, Rümeysa Şevik, Beste Kipçak Yüzbaşı, Olcay Güngör, Kadri Karaer   +4 more
openaire   +1 more source

Discovering the Hidden Power of NGLY1: Orchestrating Immune Cell Functions and Autoimmune Diseases

Frontiers in Bioscience-Landmark
The enzyme N-glycanase 1 (NGLY1) regulates autophagic processes and endoplasmic reticulum (ER)-associated proteasomal degradation by de-N-glycosylation of misfolded glycoproteins.
Christina B. Brunner, Melissa C. Schubbert, Maximilian M. Siewert, Michèle Ohnemüller, Frederic Kuwert, Ulla I. M. Gerling-Driessen, Katharina Pracht   +6 more
doaj   +1 more source

Functional Genomics of the Angiotensin II Type 2 Receptor in the Developing Brain [PDF]

, 2007
The mammalian brain expresses two angiotensin II specific receptors, the angiotensin II type 1 (AGTR1) and type 2 (AGTR2). Studies in humans and mice indicate a possible role for AGTR2 in learning, memory and behavior.
Pawlowski, Traci
core   +1 more source

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

Contribution of the Unfolded Protein Response (UPR) to the Pathogenesis of Proteasome-Associated Autoinflammatory Syndromes (PRAAS) [PDF]

, 2019
Type I interferonopathies cover a phenotypically heterogeneous group of rare genetic diseases including the recently described proteasome-associated autoinflammatory syndromes (PRAAS).
Ebstein, Frédéric, Krüger, Elke, Poli, Cecilia, Studencka-Turski, Maja   +3 more
core   +2 more sources

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

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

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

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