Results 51 to 60 of about 422,094 (137)
NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain. [PDF]
Int J Mol SciN-glycanase 1 (NGLY1) is a cytoplasmic glycoenzyme that removes N-linked glycans from misfolded glycoproteins. It plays an important role in the endoplasmic reticulum-associated degradation (ERAD) pathway in mammalian cells.
Zhang H, Xue H, Wang YC, Liu Y.
europepmc +2 more sources
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants
Molecular Genetics &Genomic Medicine, Volume 10, Issue 1, January 2022., 2022 We report the molecular and biochemical basis of an extended highly consanguineous family with five children presenting severe congenital hypotonia who underwent a ‘diagnostic odyssey.’ We have identified a novel nonsense variant in NGLY1 in two affected siblings, and compound heterozygosity for three novel RYR1 variants in two affected sisters from ...
Limor Kalfon +9 more
wiley +1 more source
Image1_Generation and characterization of NGLY1 patient-derived midbrain organoids.pdf
, 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.
Ivan Pavlinov (6866153) +11 more
core +1 more source
Image2_Generation and characterization of NGLY1 patient-derived midbrain organoids.pdf
, 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.
Ivan Pavlinov (6866153) +11 more
core +1 more source
Audiologic follow up results of child with NGLY1 deficiency
Annals of Medical Research, 2023 NGLY1 deficiency is a rare in which affected individuals show developmental delay/intellectual disability in the mild to profound range, epilepsy, auditory neuropathy, abnormal liver function, complex hyperkinetic movement disorder and poor growth. Here, we present the follow-up results of hearing status in a patient with NGLY1 deficiency.
Yeral, Cem +3 more
openaire +2 more sources
N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity
Cell Reports, 2019 Summary: Patients with pathogenic mutations in NGLY1 cannot make tears and have global developmental delay and liver dysfunction. Traditionally, NGLY1 cleaves intact N-glycans from misfolded, retrotranslocated glycoproteins before proteasomal degradation.
Mitali A. Tambe +2 more
doaj +1 more source
Data Science, 2022 Enns et al. claimed in previous work that NGLY1 deficiency is a novel autosomal recessive disorder of the ERAD pathway. We present here a formalization of that claim, stating that all things of class “NGLY1 deficiency” that are in the context of a thing ...
Núria Queralt-Rosinach
doaj +1 more source
Shedding light on NGLY1 deficiency: a call for awareness and support
Journal of Rare Diseases, 2023 AbstractNGLY1 deficiency is an ultra-rare autosomal recessive disorder caused by loss of function variants in the NGLY1 gene, representing the first known congenital disorder of deglycosylation. The disorder is characterized by a range of core features, including global developmental delay and/or intellectual disability, hyperkinetic movement disorder,
Zainab Hasan +1 more
openaire +1 more source
, 2021 Functional loss in clearing misfolded proteins is associated with several human diseases. A mutation in one such gene, NGLY1 results in a rare genetic disorder in humans.
Broussalian, Michael
core +1 more source
Sugar coating autophagy: exploring the links between the inhibition of NGLY1 (N-glycanase 1) and autophagy induction [PDF]
, 2023 The cytosolic enzyme NGLY1 (N-glycanase 1) is a central mediator of glycoprotein catabolism. The enzyme acts to cleave N-linked glycans from modified substrate asparagine residues prior to degradation of misfolded proteins by the proteasome, playing a ...
Sarah Ann Allman +4 more
core +1 more source