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Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient
European Journal of Medical Genetics, 2022NGLY1 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
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NGLY1 Deficiency: A Prospective Natural History Study (NHS)
2023AbstractN-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 +10 more
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Ocular features of NGLY1 deficiency from a prospective longitudinal cohort
Journal of American Association for Pediatric Ophthalmology and StrabismusNGLY1 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 +5 more
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A commentary on ‘Patient-derived gene and protein expression signatures of NGLY1 deficiency’
The Journal of Biochemistry, 2023Abstract The cytosolic peptide:N-glycanase (PNGase; NGLY1 in human and PNG1 in budding yeast) is a deglycosylating enzyme widely conserved in eukaryotes. Initially, functional importance of this enzyme remained unknown as the png1Δ mutant in yeast did not exhibit any significant phenotypes.
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Clarifying the mitochondrial phenotype of NGLY1 deficiency
Mitochondrion, 2015Lea Latham +5 more
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Exhaustion-associated cholesterol deficiency dampens the cytotoxic arm of antitumor immunity
Cancer Cell, 2023Chenqi Xu
exaly
NGLY1 deficiency natural history study
Molecular Genetics and MetabolismBernhard Suter +4 more
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NGLY1 deficiency - clinical features and therapeutic strategy
Journal of Human GeneticsHaruhiko Fujihira +2 more
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Human dendritic cell deficiency: the missing ID?
Nature Reviews Immunology, 2011Mathew Collin +2 more
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