Results 51 to 60 of about 954 (147)

Patient-derived gene and protein expression signatures of NGLY1 deficiency [PDF]

The Journal of Biochemistry, 2021
Abstract N-Glycanase 1 (NGLY1) deficiency is a rare and complex genetic disorder. Although recent studies have shed light on the molecular underpinnings of NGLY1 deficiency, a systematic characterization of gene and protein expression changes in patient-derived cells has been lacking.
Benedikt, Rauscher, William F, Mueller, Sandra, Clauder-Münster, Petra, Jakob, M Saiful, Islam, Han, Sun, Sonja, Ghidelli-Disse, Markus, Boesche, Marcus, Bantscheff, Hannah, Pflaumer, Paul, Collier, Bettina, Haase, Songjie, Chen, Rene, Hoffman, Guangwen, Wang, Vladimir, Benes, Gerard, Drewes, Michael, Snyder, Lars M, Steinmetz   +18 more
openaire   +3 more sources

NGLY1 Deficiency: A Rare Genetic Disorder Unlocks Therapeutic Potential for Common Diseases

Israel Journal of Chemistry, Volume 63, Issue 1-2, February 2023., 2023
Abstract The enzyme catalysing the removal of N‐linked glycans from misfolded glycoproteins in the cytosol is an evolutionary well‐conserved glycanase called Peptide:N‐glycanase (PNGase; NGLY1 in humans). NGLY1 hydrolyses the amide bond between an Asn and the proximal N‐acetylglucosamine (GlcNAc) of the attached N‐glycan, thereby converting that ...
Simon Walber, Georgia Partalidou, Ulla I. M. Gerling‐Driessen   +2 more
wiley   +1 more source

N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts

Journal of Inherited Metabolic Disease, Volume 46, Issue 1, Page 76-91, January 2023., 2023
Abstract Congenital disorders of glycosylation are genetic disorders that occur due to defects in protein and lipid glycosylation pathways. A deficiency of N‐glycanase 1, encoded by the NGLY1 gene, results in a congenital disorder of deglycosylation.
Rohit Budhraja, Mayank Saraswat, Diederik De Graef, Wasantha Ranatunga, Madan G. Ramarajan, Jehan Mousa, Tamas Kozicz, Akhilesh Pandey, Eva Morava   +8 more
wiley   +1 more source

An Induced Pluripotent Stem Cell‐Derived Neuromuscular Junction Platform for Study of the NGLY1‐Congenital Disorder of Deglycosylation

Advanced Therapeutics, Volume 5, Issue 11, November 2022., 2022
NGLY1‐CDDG is a rare and recently identified congenital deglycosylation disorder that impairs motor function. Motoneurons (MNs) derived from NGLY1‐deficient patients are co‐cultured with skeletal muscle in a neuromuscular junction microphysiological system.
Trevor Sasserath, Ashley L. Robertson, Roxana Mendez, Tristan T. Hays, Ethan Smith, Helena Cooper, Nesar Akanda, John W. Rumsey, Xiufang Guo, Atena Farkhondeh, Manisha Pradhan, Karsten Baumgaertel, Matthew Might, Steven Rodems, Wei Zheng, James J. Hickman   +15 more
wiley   +1 more source

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

Off‐target inhibition of NGLY1 by the polycaspase inhibitor Z‐VAD‐fmk induces cellular autophagy

The FEBS Journal, Volume 289, Issue 11, Page 3115-3131, June 2022., 2022
Inhibition of NGLY1 by polycaspase inhibitor Z‐VAD‐fmk in HEK293 cells leads to induction of autophagy and increase in autophagosome formation rather than disruption of autophagic flux. Similarly, autophagy induction is observed with NGLY1 siRNA knockdown.
Sarah H. Needs, Martin D. Bootman, Jeff E. Grotzke, Holger B. Kramer, Sarah A. Allman   +4 more
wiley   +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

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

NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems

Frontiers in Cell and Developmental Biology, 2022
Background: NGLY1 is an enigmatic enzyme with multiple functions across a wide range of species. In humans, pathogenic genetic variants in NGLY1 are linked to a variable phenotype of global neurological dysfunction, abnormal tear production, and liver ...
Aviv Mesika, Aviv Mesika, Golan Nadav, Golan Nadav, Chen Shochat, Limor Kalfon, Karen Jackson, Ayat Khalaileh, Ayat Khalaileh, David Karasik, Tzipora C. Falik-Zaccai, Tzipora C. Falik-Zaccai   +11 more
doaj   +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