Results 71 to 80 of about 1,366 (180)
Stem Cell Research, 2019 NGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear.
Rong Li +11 more
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Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation
Frontiers in Pediatrics, 2021 Background: Congenital disorders of glycosylation (CDG) and NGLY1-CDDG (NGLY1-congenital disorder of deglycosylation) usually represent multisystem (especially neurovisceral) diseases with liver involvement reported in some of them.
Patryk Lipiński +3 more
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A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
PLoS Genetics, 2020 Mutations in human N-glycanase 1 (NGLY1) cause the first known congenital disorder of deglycosylation (CDDG). Patients with this rare disease, which is also known as NGLY1 deficiency, exhibit global developmental delay and other phenotypes including ...
Seung Yeop Han +6 more
doaj +1 more source
The Biochemical Basis of Congenital Disorders of Glycosylation [PDF]
, 2018 The enzyme peptide: N-glycanase (EC 3.5.1.52) is an endoglycosidase which cleaves N-linked glycans from incorrectly folded glycoproteins exported from the endoplasmic reticulum during ER-associated degradation (ERAD).
Needs, Sarah
core +1 more source
BMC Medical Genetics, 2020 Background NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor ...
Haixia Ge +6 more
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NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy [PDF]
European Journal of Medical Genetics, 2015 N-glycanase 1 (NGLY1) is a conserved enzyme that is responsible for the deglycosylation of misfolded N-glycosylated proteins in the cytoplasm prior to their proteasome-mediated degradation. Disruption of this degradation process has been associated with various neurologic diseases including amyotrophic lateral sclerosis and Parkinson's disease.
Caglayan, Ahmet Okay +14 more
openaire +4 more sources
Neurodegeneration, cell signaling and neuroreparative strategies, Volume II [PDF]
, 2023 Funding Information: This work was partly supported by the grant UID/DTP/04138/2019-22 (iMed.ULisboa) as well as La Caixa Foundation and Francisco Luzón Foundation through project HR21-00931. VP acknowledges financial support from the Spanish Ministry of
Falcão, Ana Sofia +2 more
core +1 more source
G3: Genes, Genomes, Genetics, 2018 N-glycanase 1 (NGLY1) Deficiency is a rare monogenic multi-system disorder first described in 2014. NGLY1 is evolutionarily conserved in model organisms.
Tamy Portillo Rodriguez +5 more
doaj +1 more source
PLoS Genetics, 2022 Tissue homeostasis requires a delicate balance between stem cell self-renewal, proliferation, and differentiation. Essential to this process is glycosylation, with both intra-and extra-cellular glycosylation being required for stem cell homeostasis ...
Hyun-Jin Na +2 more
doaj +1 more source