Results 41 to 50 of about 954 (147)

Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene. [PDF]

PLoS Genetics, 2017
The cytoplasmic peptide:N-glycanase (Ngly1 in mammals) is a de-N-glycosylating enzyme that is highly conserved among eukaryotes. It was recently reported that subjects harboring mutations in the NGLY1 gene exhibited severe systemic symptoms (NGLY1 ...
Haruhiko Fujihira, Yuki Masahara-Negishi, Masaru Tamura, Chengcheng Huang, Yoichiro Harada, Shigeharu Wakana, Daisuke Takakura, Nana Kawasaki, Naoyuki Taniguchi, Gen Kondoh, Tadashi Yamashita, Yoko Funakoshi, Tadashi Suzuki   +12 more
doaj   +1 more source

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

Comprehensive Pan-Cancer Analysis of TRNT1 as a Potential Biomarker for Breast Cancer. [PDF]

J Cell Mol Med
ABSTRACT TRNT1, an RNA nucleotide transferase, plays a critical role in cellular processes and may be involved in cancer. However, its role in cancer has not been fully explored. This study aims to explore the potential significance of TRNT1 in cancer, particularly in breast cancer (BC) progression and prognosis.
Li X, Meng Y, Gu B.
europepmc   +2 more sources

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

eLife, 2020
AbstractN-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in theNGLY1gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears. To model the phenotypic variability observed among patients, we crossed aDrosophilamodel of NGLY1 deficiency onto a panel of ...
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   +5 more sources

An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene

Stem Cell Research, 2021
NGLY1 deficiency is a rare disorder caused by mutations in the NGLY1 gene which codes for the highly conserved N-glycanase1 (NGLY1). This enzyme functions in cytosolic deglycosylation of N- linked glycoproteins.
Manisha Pradhan, Atena Farkhondeh, Yu-Shan Cheng, Miao Xu, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matthew Might, Steven Rodems, Karsten Baumgärtel, Wei Zheng   +10 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