Results 51 to 60 of about 933 (165)

A Drosophila natural variation screen identifies NKCC1 as a substrate of NGLY1 deglycosylation and a modifier of NGLY1 deficiency [PDF]

, 2020
Abstract N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears.
Talsness, Dana M., Owings, Katie G., Coelho, Emily, Mercenne, Gaelle, Pleinis, John M., Zuberi, Aamir R., Partha, Raghavendran, Clark, Nathan L., Lutz, Cathleen M., Rodan, Aylin R., Chow, Clement Y.   +10 more
openaire   +1 more source

Image2_Generation and characterization of NGLY1 patient-derived midbrain organoids.pdf

, 2023
NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan.
Ivan Pavlinov (6866153), Ha Nam Nguyen (14634311), Atena Farkhondeh (5752139), Karsten Baumgärtel (14634317), Matthew Might (8356293), Mitali Tambe (11429779), Manisha Pradhan (9345439), Miao Xu (130624), Steven Rodems (14634320), Joshua Abbott (443706), Tate York (14634314), Wei Zheng (25452)   +11 more
core   +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

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

Genetic disruption of mammalian endoplasmic reticulum‐associated protein degradation: Human phenotypes and animal and cellular disease models

Traffic, Volume 24, Issue 8, Page 312-333, August 2023., 2023
Degradation of unassembled, misfolded, and other defective proteins is mediated by a major quality control mechanism, named the endoplasmic reticulum‐associated protein degradation (ERAD). Throughout this manuscript, we present the various genetically manipulated higher cellular and mammalian animal models that were depleted for specific ERAD ...
Sally Badawi, Feda E. Mohamed, Divya Saro Varghese, Bassam R. Ali   +3 more
wiley   +1 more source

Increased recombinant adeno‐associated virus production by HEK293 cells using small molecule chemical additives

Biotechnology Journal, Volume 18, Issue 3, March 2023., 2023
Graphical Abstract and Lay Summary Transient triple‐plasmid transfection‐based recombinant adeno‐associated virus (rAAV) production was carried out at microplate scale to allow for screening of multiple small molecule cell culture additives. Two chemicals (nocodazole and M344) were found to positively regulate rAAV genome titre when added to rAAV ...
Joseph M. Scarrott, Yusuf B. Johari, Thilo H. Pohle, Ping Liu, Ayda Mayer, David C. James   +5 more
wiley   +1 more source

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

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 2, Page 206-219, March 2023., 2023
Abstract Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan‐side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these disorders are commonly diagnosed by thin‐
Marne C. Hagemeijer, Jeroen C. van den Bosch, Michiel Bongaerts, Edwin H. Jacobs, Johanna M. P. van den Hout, Esmee Oussoren, George J. G. Ruijter   +6 more
wiley   +1 more source

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

Off-target inhibition of NGLY1 by the polycaspase inhibitor Z-VAD-fmk induces cellular autophagy [PDF]

, 2022
The polycaspase inhibitor Z-VAD-fmk acts as an inhibitor of peptide: N-glycanase (NGLY1), an endoglycosidase which cleaves N-linked glycans from glycoproteins exported from the endoplasmic reticulum (ER) during ER-associated degradation (ERAD).
Jeff E. Grotzke, Grotzke, Jeff E., Martin D. Bootman, Sarah H. Needs, Kramer, Holger B., Needs, Sarah H., Bootman, Martin D., Allman, Sarah A., Holger B. Kramer, Sarah A. Allman   +9 more
core   +1 more source