Results 31 to 40 of about 811 (146)

The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency. [PDF]

J Exp Med
The STING pathway is increasingly recognized as a key regulator of neuroinflammation in neurodegenerative disease, but its role in noninflammatory conditions remains unclear. We generated a postnatal inducible whole-body Ngly1 knockout mouse (iNgly1−/−) to model NGLY1 deficiency, an early-onset neurodegenerative disorder.
Yang K, Torres-Ramirez G, Dobbs N, Han J, Asahina M, Fujinawa R, Song K, Liu Y, Lin W, Oviedo A, Chen C, Zhu L, Mueller WF, Lee K, Suzuki T, Yan N.   +15 more
europepmc   +2 more sources

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

Israel Journal of Chemistry, 2022
AbstractThe 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
openaire   +2 more sources

Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches [PDF]

Disease Models & Mechanisms, 2019
N-glycanase 1 (NGLY1) deficiency is an ultra-rare and complex monogenic glycosylation disorder that affects fewer than 40 patients globally. NGLY1 deficiency has been studied in model organisms such as yeast, worms, flies and mice.
Sangeetha Iyer, Joshua D. Mast, Hillary Tsang, Tamy P. Rodriguez, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Zachary Parton, Ethan O. Perlstein   +8 more
doaj   +2 more sources

Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation [PDF]

JIMD Reports, 2019
We report on a 5‐year‐old female born to consanguineous parents, ascertained at the age of 23 months for an elevated plasma methionine level, a mildly abnormal total plasma homocysteine (tHcy), and elevated aminotransferases. She had global developmental
Caitlin A. Chang, Xing‐Chang Wei, Steven R. Martin, David S. Sinasac, Walla Al‐Hertani   +4 more
doaj   +2 more sources

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan. [PDF]

JIMD Rep
ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from ...
Okamoto N, Kadoya M, Wada Y.
europepmc   +2 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