Results 71 to 80 of about 954 (147)

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy [PDF]

European Journal of Medical Genetics, 2015
N-glycanase 1 (NGLY1) is a conserved enzyme that is responsible for the deglycosylation of misfolded N-glycosylated proteins in the cytoplasm prior to their proteasome-mediated degradation. Disruption of this degradation process has been associated with various neurologic diseases including amyotrophic lateral sclerosis and Parkinson's disease.
Caglayan, Ahmet Okay, Comu, Sinan, Baranoski, Jacob F., Parman, Yesim, Kaymakcalan, Hande, Akgumus, Gozde Tugce, Caglar, CANER, Dolen, Duygu, Erson-Omay, Emine Zeynep, Harmanci, Akdes Serin, Mishra-Gorur, Ketu, Freeze, Hudson H., Yasuno, Katsuhito, Bilguvar, Kaya, Gunel, Murat   +14 more
openaire   +4 more sources

A conserved role for AMP-activated protein kinase in NGLY1 deficiency.

PLoS Genetics, 2020
Mutations in human N-glycanase 1 (NGLY1) cause the first known congenital disorder of deglycosylation (CDDG). Patients with this rare disease, which is also known as NGLY1 deficiency, exhibit global developmental delay and other phenotypes including ...
Seung Yeop Han, Ashutosh Pandey, Tereza Moore, Antonio Galeone, Lita Duraine, Tina M Cowan, Hamed Jafar-Nejad   +6 more
doaj   +1 more source

Cytosolic O-GlcNAcylation and PNG1 maintain Drosophila gut homeostasis by regulating proliferation and apoptosis.

PLoS Genetics, 2022
Tissue homeostasis requires a delicate balance between stem cell self-renewal, proliferation, and differentiation. Essential to this process is glycosylation, with both intra-and extra-cellular glycosylation being required for stem cell homeostasis ...
Hyun-Jin Na, Lara K Abramowitz, John A Hanover   +2 more
doaj   +1 more source

Coupled deglycosylation-ubiquitination cascade in regulating PD-1 degradation by MDM2

Cell Reports, 2023
Summary: Posttranslational modifications represent a key step in modulating programmed death-1 (PD-1) functions, but the underlying mechanisms remain incompletely defined. Here, we report crosstalk between deglycosylation and ubiquitination in regulating
Zhen Wu, Zhijie Cao, Han Yao, Xiaojun Yan, Wenbin Xu, Mi Zhang, Zishan Jiao, Zijing Zhang, Jianyuan Chen, Yajing Liu, Meng Zhang, Donglai Wang   +11 more
doaj   +1 more source

N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1 [PDF]

Journal of Experimental Medicine, 2018
Mutations in the NGLY1 (N-glycanase 1) gene, encoding an evolutionarily conserved deglycosylation enzyme, are associated with a rare congenital disorder leading to global developmental delay and neurological abnormalities. The molecular mechanism of the NGLY1 disease and its function in tissue and immune homeostasis remain unknown.
Kun Yang, Ryan Huang, Haruhiko Fujihira, Tadashi Suzuki, Nan Yan   +4 more
openaire   +2 more sources

Shedding light on NGLY1 deficiency: a call for awareness and support

Journal of Rare Diseases, 2023
NGLY1 deficiency is an ultra-rare autosomal recessive disorder caused by loss of function variants in the NGLY1 gene, representing the first known congenital disorder of deglycosylation.
Zainab Hasan, Syed Muhammad Farzan Ali Warsi   +1 more
semanticscholar   +1 more source

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

Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency

G3: Genes, Genomes, Genetics, 2018
N-glycanase 1 (NGLY1) Deficiency is a rare monogenic multi-system disorder first described in 2014. NGLY1 is evolutionarily conserved in model organisms.
Tamy Portillo Rodriguez, Joshua D. Mast, Tom Hartl, Tom Lee, Peter Sand, Ethan O. Perlstein   +5 more
doaj   +1 more source

Molecular Mechanisms of Synergistic Effect of PRIMA‐1met and Oxaliplatin in Colorectal Cancer With Different p53 Status

Cancer Medicine, Volume 14, Issue 1, January 2025.
We report differential molecular mechanisms including pathways, key modules, and hub genes, induced by combination of oxaliplatin (L‐OHP) and PRIMA‐1met (APR‐246, eprenetapopt) in p53‐wild type vs. p53‐mutant colorectal cancer. Our in vivo studies show that the additional of PRIMA‐1met offers a threefold advantage: enhanced therapeutic effects, reduced
Xiao‐lan Li, Jianbiao Zhou, Nicole Xin‐Ning Tang, Yi Chai, Meng Zhou, Ai‐di Gao, Zhong‐kai Lu, Han Min   +7 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