Results 51 to 60 of about 1,366 (180)

N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity

Cell Reports, 2019
Summary: Patients with pathogenic mutations in NGLY1 cannot make tears and have global developmental delay and liver dysfunction. Traditionally, NGLY1 cleaves intact N-glycans from misfolded, retrotranslocated glycoproteins before proteasomal degradation.
Mitali A. Tambe, Bobby G. Ng, Hudson H. Freeze   +2 more
doaj   +1 more source

Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines

G3: Genes, Genomes, Genetics, 2020
N-Glycanase 1 (NGLY1) deficiency is an ultra-rare, complex and devastating neuromuscular disease. Patients display multi-organ symptoms including developmental delays, movement disorders, seizures, constipation and lack of tear production.
William F. Mueller, Petra Jakob, Han Sun, Sandra Clauder-Münster, Sonja Ghidelli-Disse, Diana Ordonez, Markus Boesche, Marcus Bantscheff, Paul Collier, Bettina Haase, Vladimir Benes, Malte Paulsen, Peter Sehr, Joe Lewis, Gerard Drewes, Lars M. Steinmetz   +15 more
doaj   +1 more source

Comprehensive Analysis of the Potential Prognostic Value of 11 Glycosylation‐Related Genes in Head and Neck Squamous Cell Carcinoma and Their Correlation with PD‐L1 Expression and Immune Infiltration

Journal of Oncology, Volume 2022, Issue 1, 2022., 2022
Background. Head and neck squamous cell carcinoma (HNSCC) is one of the worst and most common malignant tumors. This study is aimed at studying the complex interaction between glycosylation‐related genes and HNSCC. Methods. The Cancer Genome Atlas (TCGA) contains gene expression profile data of HNSCC and normal tissues, as well as patient survival and ...
Langxiong Chen, Yuefu Ling, Hong Yang, Jie Mei   +3 more
wiley   +1 more source

Web-based Gene Pathogenicity Analysis (WGPA): a web platform to interpret gene pathogenicity from personal genome data [PDF]

, 2015
UNLABELLED: As the volume of patient-specific genome sequences increases the focus of biomedical research is switching from the detection of disease-mutations to their interpretation.
Diaz-Diaz, N, Diaz-Montana, JJ, Petretto, E, Rackham, OJ   +3 more
core   +1 more source

Spatial Transcriptomic Analysis Using R‐Based Computational Machine Learning Reveals the Genetic Profile of Yang or Yin Deficiency Syndrome in Chinese Medicine Theory

Evidence-Based Complementary and Alternative Medicine, Volume 2022, Issue 1, 2022., 2022
Objectives. Yang and Yin are two main concepts responsible for harmonious balance reflecting health conditions based on Chinese medicine theory. Of note, deficiency of either Yang or Yin is associated with disease susceptibility. In this study, we aim to clarify the molecular feature of Yang and Yin deficiency by reanalyzing a transcriptomic data set ...
Cheng Zhang, Chi wing Tam, Guoyi Tang, Yuanyuan Chen, Ning Wang, Yibin Feng, Woon-Man Kung   +6 more
wiley   +1 more source

NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology

Cells, 2022
N-Glycanase 1 (NGLY1) is a cytosolic enzyme involved in removing N-linked glycans of misfolded N-glycoproteins and is considered to be a component of endoplasmic reticulum-associated degradation (ERAD).
Ashutosh Pandey, Joshua M. Adams, Seung Yeop Han, Hamed Jafar-Nejad   +3 more
doaj   +1 more source

Topological Analysis of Metabolic Networks Integrating Co-Segregating Transcriptomes and Metabolomes in Type 2 Diabetic Rat Congenic Series [PDF]

, 2016
Background: The genetic regulation of metabolic phenotypes (i.e., metabotypes) in type 2 diabetes mellitus is caused by complex organ-specific cellular mechanisms contributing to impaired insulin secretion and insulin resistance.
Argoud, K, Ayala, R, Calderari, S, Cazier, JB, Collins, S, Domange, C, Dumas, ME, Gauguier, D, Gu, Q, Holmes, E, Hue, C, Lindon, JC, Mitchell, S, Navratil, V, Nicholson, JK, Otto, GW, Rodriguez Martinez, A, Suárez-Zamorano, N, Wallis, R, Wang, Y, Wilder, S   +20 more
core   +6 more sources

N-glycan mediated shielding of ADAMTS13 prevents binding of pathogenic autoantibodies in immune-mediated TTP [PDF]

, 2021
Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is an autoimmune disorder caused by the development of autoantibodies targeting different domains of ADAMTS13.
Arfman, Tom, Coppo, Paul, Ercig, Bogac, Gomes Graca, Nuno Alexandre, Hrdinova, Johana, Kaijen, Paul, Kangro, Kadri, Männik, Andres, Nicolaes, Gerry A F, Reutelingsperger, Chris, van Alphen, Floris, van den Biggelaar, Maartje, Vanhoorelbeke, Karen, Veyradier, Agnès, Voorberg, Jan, Wichapong, Kanin   +15 more
core   +2 more sources

Physiological importance of NGLY1, as revealed by rodent model analyses [PDF]

The Journal of Biochemistry, 2021
Abstract Cytosolic peptide:N-glycanase (NGLY1) is an enzyme that cleaves N-glycans from glycoproteins that has been retrotranslocated from the endoplasmic reticulum (ER) lumen into the cytosol. It is known that NGLY1 is involved in the degradation of cytosolic glycans (non-lysosomal glycan degradation) as well as ER-associated ...
Haruhiko, Fujihira, Makoto, Asahina, Tadashi, Suzuki   +2 more
openaire   +2 more sources

Proteasome Inhibitors: Harnessing Proteostasis to Combat Disease [PDF]

, 2020
The proteasome is the central component of the main cellular protein degradation pathway. During the past four decades, the critical function of the proteasome in numerous physiological processes has been revealed, and proteasome activity has been linked
Li, Jing, Sherman, David J.
core   +2 more sources