Results 31 to 40 of about 792 (148)

Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches. [PDF]

Hum Mol Genet, 2018
Autosomal recessive loss-of-function mutations in N-glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction and alacrima. NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD ...
Owings KG, Lowry JB, Bi Y, Might M, Chow CY.   +4 more
europepmc   +4 more sources

Mutations in nucleotide metabolism genes bypass proteasome defects in png-1/NGLY1-deficient Caenorhabditis elegans. [PDF]

PLoS Biol
The conserved SKN-1A/Nrf1 transcription factor regulates the expression of proteasome subunit genes and is essential for maintenance of adequate proteasome function in animal development, aging, and stress responses. Unusual among transcription factors, SKN-1A/Nrf1 is a glycoprotein synthesized in the endoplasmic reticulum (ER).
Yanagi KS, Jochim B, Kunjo SO, Breen P, Ruvkun G, Lehrbach N.   +5 more
europepmc   +3 more sources

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

Assay for the peptide:N-glycanase/NGLY1 and disease-specific biomarkers for diagnosing NGLY1 deficiency [PDF]

The Journal of Biochemistry, 2021
Abstract Cytosolic peptide:N-glycanase (NGLY1 in mammals), a highly conserved enzyme in eukaryotes, catalyses the deglycosylation of N-glycans that are attached to glycopeptide/glycoproteins. In 2012, an autosomal recessive disorder related to the NGLY1 gene, which was referred to as NGLY1 deficiency, was reported.
Hiroto, Hirayama, Tadashi, Suzuki
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

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

Generation and characterization of NGLY1 patient-derived midbrain organoids

Frontiers in Cell and Developmental Biology, 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.
Joshua Abbott, Mitali Tambe, Ivan Pavlinov, Atena Farkhondeh, Ha Nam Nguyen, Ha Nam Nguyen, Miao Xu, Manisha Pradhan, Tate York, Matthew Might, Karsten Baumgärtel, Steven Rodems, Wei Zheng   +12 more
doaj   +1 more source

Off‐target inhibition of NGLY1 by the poly‐caspase inhibitor Z‐VAD‐fmk induces cellular autophagy [PDF]

, 2022
The pan-caspase inhibitor Z-VAD-fmk acts as an inhibitor of peptide:N-glycanase (NGLY1); an endoglycosidase which cleaves N-inked glycans from glycoproteins exported from the endoplasmic reticulum (ER) during ER-associated degradation (ERAD).
Allman, Sarah A., Bootman, Martin, Grotzke, Jeff E., Kramer, Holger B., Needs, Sarah H.   +4 more
core   +1 more source

Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9

Stem Cell Research, 2021
NGLY1 deficiency is a rare recessive genetic disease caused by mutations in the NGLY1 gene which codes for N-glycanase 1 (NGLY1). Here, we report the generation of two gene corrected iPSC lines using a patient-derived iPSC line (NCATS-CL6103) that ...
Ivan Pavlinov, Atena Farkhondeh, Shu Yang, Miao Xu, Yu-Shan Cheng, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matthew Might, Steven Rodems, Karsten Baumgärtel, Wei Zheng   +11 more
doaj   +1 more source

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