Results 131 to 140 of about 954 (147)

Increased Oxidative Stress and Autophagy in NGLY1 Patient iPSC-derived Neural Stem Cells.

Experimental Cell Research
NGLY1 (N-glycanase) is a de-glycosylating enzyme that promotes clearance of misfolded glycan proteins. NGLY1 deficiency leads to a disease pathology with varied symptoms, including severe neurological defects.
Zeenat A. Shyr, Soukaina Amniouel, Kofi Owusu-Ansah, Mitali Tambe, Joshua Abbott, M. Might, Wei Zheng   +6 more
semanticscholar   +1 more source

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.

European Journal of Medical Genetics, 2023
INTRODUCTION NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have
Yuri Sonoda, A. Fujita, Michiko Torio, Takahiko Mukaino, A. Sakata, Masaru Matsukura, Kousuke Yonemoto, Ken Hatae, Y. Ichimiya, P. Chong, Masayuki Ochiai, Yoshinao Wada, Machiko Kadoya, Nobuhiko Okamoto, Y. Murakami, Tadashi Suzuki, Noriko Isobe, Hiroshi Shigeto, Naomichi Matsumoto, Y. Sakai, S. Ohga   +20 more
semanticscholar   +1 more source

Unveiling roles of NGLY1 in cellular homeostasis and related diseases.

Cellular Signalling
NGLY1, a cytoplasmic enzyme, removes N-glycans from misfolded glycoproteins during endoplasmic reticulum-associated degradation (ERAD), a critical protein quality control mechanism.
Chenxi Zhan, Xuye Zhao, Ya-Nan Wei, Renqiang Yang, Nianlong Yan   +4 more
semanticscholar   +1 more source

New perspectives on the mutated NGLY1 enigma

Medical Hypotheses, 2015
The enzyme N-glycanase 1 (NGLY1) is considered a component of the endoplasmic reticulum-associated degradation (ERAD) machinery and clinical manifestations of its dysfunction include global developmental delay, a movement disorder, peripheral neuropathy, liver disorders, microcephaly, diminished reflexes and seizures.
openaire   +2 more sources

NGLY1 Deficiency: A Prospective Natural History Study (NHS)

2023
AbstractN-glycanase 1 (NGLY1) Deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic enzyme that deglycosylates other proteins. It is characterized by severe global developmental delay and/or intellectual disability, hyperkinetic movement disorder, transient elevation of transaminases ...
Sandra Tong, Pamela Ventola, Christina H. Frater, Jenna Klotz, Jennifer M. Phillips, Srikanth Muppidi, Selina S. Dwight, William F. Mueller, Brendan J. Beahm, Matt Wilsey, Kevin J. Lee   +10 more
openaire   +1 more source

Structural characterization and insights into the formation of N-acetylglucosaminylasparagine and its derivatives in NGLY1-deficient models and patients.

Glycobiology
Cytosolic peptide:N-glycanase (PNGase/NGLY1 in mammals), a widely conserved amidase in eukaryotes, catalyzes the removal of N-glycans from glycoproteins and contributes to the quality control system for nascent glycoproteins.
Hiroto Hirayama, Yuriko Tachida, Reiko Fujinawa, Makoto Asahina, Megumi Hirayama, Tomohiro Andou, Masaya Usui, Tadashi Suzuki   +7 more
semanticscholar   +1 more source

Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient

European Journal of Medical Genetics, 2022
NGLY1 deficiency is a rare congenital disorder of deglycosylation with a unique constellation of symptoms that include hypo- or alacrima, movement disorder, epilepsy, and severe intellectual disability (OMIM #615273). Here we report a patient with NGLY1 deficiency whose clinical presentation lacks many of the features associated with the disease and ...
D.K. Nolan, M.T. Pastore, K.L. McBride
openaire   +2 more sources

ELISA-based highly sensitive assay system for the detection of endogenous NGLY1 activity.

Biochemical and Biophysical Research Communications - BBRC
Cytosolic peptide:N-glycanase (NGLY1, PNGase) is an enzyme that cleaves N-glycans from misfolded glycoproteins. In 2012, a human genetic disorder, NGLY1 deficiency, was first reported to be caused by mutations of the NGLY1 gene.
Haruhiko Fujihira, Keiko Sato, Yuji Nishiuchi, Takefumi Murase, Yuka Matsuda, Yukiko Yoshida, Takayuki Kamei, Tadashi Suzuki   +7 more
semanticscholar   +1 more source

Doxorubicin induces deglycosylation of cancer cell‐intrinsic PD‐1 by NGLY1

FEBS Letters
Tumor cells can express the immune checkpoint protein programmed death‐1 (PD‐1), but how cancer cell‐intrinsic PD‐1 is regulated in response to cellular stresses remains largely unknown.
Dexuan Wu, Zhen Wu, Han Yao, Xiaojun Yan, Zishan Jiao, Yajing Liu, Meng Zhang, Donglai Wang   +7 more
semanticscholar   +1 more source

Structural basis of sugar recognition by SCFFBS2 ubiquitin ligase involved in NGLY1 deficiency

FEBS Letters
The cytosolic peptide:N‐glycanase (PNGase) is involved in the quality control of N‐glycoproteins via the endoplasmic reticulum‐associated degradation (ERAD) pathway. Mutations in the gene encoding cytosolic PNGase (NGLY1 in humans) cause NGLY1 deficiency.
T. Satoh, M. Yagi-Utsumi, Nozomi Ishii, T. Mizushima, Hirokazu Yagi, R. Kato, Yuriko Tachida, Hiroaki Tateno, Ichiro Matsuo, Koichi Kato, Tadashi Suzuki, Yukiko Yoshida   +11 more
semanticscholar   +1 more source