Results 41 to 50 of about 1,366 (180)

Deficiency of N-glycanase 1 perturbs neurogenesis and cerebral development modeled by human organoids

Cell Death and Disease, 2022
Mutations in N-glycanase 1 (NGLY1), which deglycosylates misfolded glycoproteins for degradation, can cause NGLY1 deficiency in patients and their abnormal fetal development in multiple organs, including microcephaly and other neurological disorders ...
Victor J. T. Lin, Jiangnan Hu, Ashwini Zolekar, Max R. Salick, Parul Mittal, Jordan T. Bird, Peter Hoffmann, Ajamete Kaykas, Stephanie D. Byrum, Yu-Chieh Wang   +9 more
doaj   +1 more source

JF1/B6F1 Ngly1-/- mouse as an isogenic animal model of NGLY1 deficiency.

Proceedings of the Japan Academy. Series B, Physical and biological sciences, 2021
N-Glycanase 1 (NGLY1) deficiency is a congenital disorder caused by mutations in the NGLY1 gene. Because systemic Ngly1-/- mice with a C57BL/6 (B6) background are embryonically lethal, studies on the mechanism of NGLY1 deficiency using mice have been problematic.
ASAHINA, Makoto, FUJINAWA, Reiko, FUJIHIRA, Haruhiko, MASAHARA-NEGISHI, Yuki, ANDOU, Tomohiro, TOZAWA, Ryuichi, SUZUKI, Tadashi   +6 more
openaire   +2 more sources

GlcNAc-Asn is a biomarker for NGLY1 deficiency

The Journal of Biochemistry, 2021
Abstract Substrate-derived biomarkers are necessary in slowly progressing monogenetic diseases caused by single-enzyme deficiencies to identify affected patients and serve as surrogate markers for therapy response. N-glycanase 1 (NGLY1) deficiency is an ultra-rare autosomal recessive disorder characterized by developmental delay ...
Mueller, William F, Zhu, Lei, Tan, Brandon, Dwight, Selina, Beahm, Brendan, Wilsey, Matt, Wechsler, Thomas, Mak, Justin, Cowan, Tina, Pritchett, Jake, Taylor, Eric, Crawford, Brett E   +11 more
openaire   +3 more sources

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

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

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