Results 71 to 80 of about 811 (146)

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, Frans Bianchi, Geert van den Bogaart   +2 more
wiley   +1 more source

Genetic counseling for congenital disorders of glycosylation (CDG)

Journal of Genetic Counseling, Volume 33, Issue 6, Page 1358-1364, December 2024.
Abstract Congenital disorders of glycosylation (CDGs) are a genetically and clinically diverse group of disorders that arise as a result of defects within glycosylation synthetic pathways. CDGs are caused by pathogenic variants in many different genes in the glycosylation network.
Tara Weixel, Lynne Wolfe, Ellen F. Macnamara   +2 more
wiley   +1 more source

Dysregulated proteome and N‐glycoproteome in ALG1‐deficient fibroblasts

PROTEOMICS, Volume 24, Issue 15, August 2024.
Abstract Asparagine‐linked glycosylation 1 protein is a β‐1,4‐mannosyltransferase, is encoded by the ALG1 gene, which catalyzes the first step of mannosylation in N‐glycosylation. Pathogenic variants in ALG1 cause a rare autosomal recessive disorder termed as ALG1‐CDG.
Rohit Budhraja, Neha Joshi, Silvia Radenkovic, Tamas Kozicz, Eva Morava, Akhilesh Pandey   +5 more
wiley   +1 more source

An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene

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, Yu-Shan Cheng, Rong Li, Manisha Pradhan, Junjie Hong, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matt Might, Steven Rodems, Wei Zheng   +10 more
doaj   +1 more source

Insight into the mechanism of CD34+ cell mobilisation impairment in multiple myeloma patients treated with anti‐CD38 therapy

British Journal of Haematology, Volume 204, Issue 4, Page 1439-1449, April 2024.
Modern anti‐CD38 monoclonal antibodies daratumumab and isatuximab have been associated with impairment of CD34+ cell mobilisation but the mechanism was not elucidated so far. In this study, we investigated the effect of three different regimens (dara‐VCd, isa‐KRd and VTd) on CD34+ cells and the findings suggest that upregulated adhesion‐related ...
Ondrej Venglar, Veronika Kapustova, Anjana Anilkumar Sithara, David Zihala, Ludmila Muronova, Tereza Sevcikova, Jan Vrana, Alexander Vdovin, Jakub Radocha, Petra Krhovska, Matous Hrdinka, Michal Turjap, Tereza Popkova, Zuzana Chyra, Lucie Broskevicova, Michal Simicek, Zdenek Koristek, Roman Hajek, Tomas Jelinek   +18 more
wiley   +1 more source

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, Mori, Kazutoshi, Ninagawa, Satoshi   +2 more
core   +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  

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, Bär, Séverine, Chicher, Johana, Deleuze, Jean‐François, Dollfus, Hélène, Ebstein, Frédéric, Etard, Christelle, Eyermann, Carine, Friant, Sylvie, Geoffroy, Véronique, Hammann, Philippe, Kawakami, Koichi, Kröll‐Hermi, Ariane, Krüger, Elke, Kuhn, Lauriane, Laugel, Vincent, Lipsker, Dan, McGinn, Steven, Muller, Jean, Pelletier, Valerie, Sandron, Florian, Schaefer, Elise, Scheidecker, Sophie, Speeg‐Schatz, Claude, Stoetzel, Corinne, Strähle, Uwe, Studer, Fouzia, Takamiya, Masanari, Zieba, Barbara A   +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, Jorge Álvarez-Troncoso, Nuria Reina-Llompart, Soledad Serrano-López   +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