Antigen presentation of post‐translationally modified peptides in major histocompatibility complexes
Immunology &Cell Biology, Volume 103, Issue 2, Page 161-177, February 2025.T cells recognize pathogens and malignantly transformed cells through antigen presentation on major histocompatibility complex molecules. Post‐translational modifications (PTMs) of proteins can alter the peptides presented, influencing immune recognition and disease.
Alexine S de Wit +2 more
wiley +1 more source
Stem Cell Research, 2019 NGLY1 deficiency is a rare inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a
Shu Yang +10 more
doaj +1 more source
Advancing the understanding of Congenital Disorders of Glycosylation symptoms to accelerate therapies [PDF]
, 2023 The work developed during this master project has originated: Posters: Falcão M, Parrado M, Pascoal C, Francisco R, Brasil S, Videira PA, Ferreira V. Empowering CDG families and professionals with an arsenal of educational resources.
Parrado, Madalena Romão
core
Mechanisms of productive folding and endoplasmic reticulum-associated degradation of glycoproteins and non-glycoproteins [PDF]
, 2021 BACKGROUND: The quality of proteins destined for the secretory pathway is ensured by two distinct mechanisms in the endoplasmic reticulum (ER): productive folding of newly synthesized proteins, which is assisted by ER-localized molecular chaperones and ...
George, Ginto +2 more
core +1 more source
Proteasome subunit variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress [PDF]
, 2020 The ubiquitin–proteasome system degrades ubiquitin‐modified proteins to maintain protein homeostasis and to control signalling. Whole‐genome sequencing of patients with severe deafness and early‐onset cataracts as part of a neurological, sensorial and ...
Boland, Anne +28 more
core +2 more sources
Tofacitinib improves motor symptoms in parkinsonism associated with a heterozygous NGLY1 variant and autoimmune disease [PDF]
Introduction: Levodopa-refractory parkinsonism poses a significant diagnostic and therapeutic challenge. Variants in N-glycanase 1 (NGLY1), a key gene in proteostasis, have been associated with movement disorders, and the Janus kinase/signal transducer ...
Gabriel Torres-Iglesias +3 more
core +2 more sources
N-Glycanase-1-Mangel – Charakterisierung von Genvarianten [PDF]
N-Glycanase-1-Mangel ist eine kongenitale Störung der Deglykosylierung. Die Krankheit ist durch fünf Kernsymptome geprägt: globale Entwicklungsverzögerung, Choreoathetose, Erhöhung von Leberwerten in Blutuntersuchungen, Hypo-/Alakrimie und eine ...
Orczyk, Ralph Rene
core +2 more sources
A Rare Case: NGLY1 Deficiency and Diaphragmatic Eventration
Turkish Archives of PediatricsCite 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 +4 more
openaire +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
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 +3 more
core +2 more sources