Results 141 to 150 of about 933 (165)

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Molecular Genetics and Metabolism, 2019
Background: NGLY1-CDDG is a congenital disorder of deglycosylation caused by a defective peptide:N-glycanase (PNG). To date, all but one of the reported patients have been diagnosed through whole-exome or whole-genome sequencing, as no biochemical marker
Berthil Prinsen, Peter M van Hasselt, Nanda M Verhoeven-Duif   +2 more
exaly   +5 more sources

N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts

Journal of Inherited Metabolic Disease, 2023
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 Budhiraja, Tamas Kozicz, Eva Morava   +2 more
exaly   +2 more sources

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Delineating the epilepsy phenotype of NGLY1 deficiency

Journal of Inherited Metabolic Disease, 2022
AbstractWe delineated the phenotypic spectrum of epilepsy in individuals with NGLY1 deficiency from an international cohort. We collected detailed clinical and electroencephalographic data from 29 individuals with bi‐allelic (likely) pathogenic variants in NGLY1 as part of an ongoing prospective natural history study.
Rebecca J. Levy, Christina H. Frater, William B. Gallentine, Jennifer M. Phillips, Maura R. Ruzhnikov   +4 more
openaire   +2 more sources

Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency

Physiological Reports, 2019
Homozygous mutations in NGLY1 were recently found to cause a condition characterized by a complex neurological syndrome, hypo- or alacrimia, and elevated liver transaminases. For yet unknown reasons, mortality is increased in patients with this condition.
Joost Rotteveel, Martijn J J Finken, Britt J Van Keulen   +2 more
exaly   +2 more sources

NGLY1: A fascinating, multifunctional molecule

Biochimica et Biophysica Acta (BBA) - General Subjects
NGLY1, a cytoplasmic de-N-glycosylating enzyme is well conserved among eukaryotes. This enzyme has attracted considerable attention after mutations on the NGLY1 gene were found to cause a rare genetic disorder called NGLY1 deficiency. Recent explosive progress in NGLY1 research has revealed multi-functional aspects of this protein.
Tadashi, Suzuki, Haruhiko, Fujihira
openaire   +2 more sources

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

Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells

Biochemical and Biophysical Research Communications, 2022
N-glycanase 1(NGLY1) catalyzes the removal of N-linked glycans from newly synthesized or misfolded protein. NGLY1 deficiency is a recently diagnosed rare genetic disorder. The affected individuals present a broad spectrum of clinical features. Recent studies explored several possible molecular mechanisms of NGLY1 deficiency including defects in ...
Rebecca Hetz, Carlo Magaway, Jaylene Everett, Ling Li, Belinda B. Willard, Hudson H. Freeze, Ping He   +6 more
openaire   +2 more sources

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. ERAD coordinates with the ubiquitin-proteasome system (UPS), working synergistically to maintain cellular proteostasis and mitigate protein toxicity.
Chenxi, Zhan, Xuye, Zhao, Yaoxin, Wei, Renqiang, Yang, Nianlong, Yan   +4 more
openaire   +2 more sources

Ocular features of NGLY1 deficiency from a prospective longitudinal cohort

Journal of American Association for Pediatric Ophthalmology and Strabismus
NGLY1 deficiency is a rare autosomal recessive disorder with core features of global developmental delay, liver enzyme abnormalities, movement disorder, polyneuropathy, and hypo- or alacrima. We characterized the full spectrum and evolution of the ocular phenotype in a prospective natural history of NGLY1 deficiency.We collected ophthalmological data ...
Christina H. Frater, Maura R.Z. Ruzhnikov, Shannon Beres, Deborah Alcorn, Ann Shue, Rebecca J. Levy   +5 more
openaire   +2 more sources

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

Proceedings of the Japan Academy Series B: Physical and Biological Sciences, 2021
Ryuichi Tozawa, Tadashi Suzuki, Makoto Asahina   +2 more
exaly