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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: Novel variants and literature review
European Journal of Medical Genetics, 2021NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders. The typical phenotype is characterized by intellectual disability, liver malfunctioning, muscular hypotonia, involuntary
Ariana Kariminejad +9 more
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Delineating the epilepsy phenotype of
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 +4 more
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Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells
Biochemical and Biophysical Research Communications, 2022N-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 +6 more
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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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JF1/B6F1 <i>Ngly1</i><sup>−/−</sup> mouse as an isogenic animal model of NGLY1 deficiency
Proceedings of the Japan Academy Series B: Physical and Biological Sciences, 2021Reiko Fujinawa +2 more
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Patient-derived gene and protein expression signatures of NGLY1 deficiency
Journal of Biochemistry, 2022Benedikt Rauscher +2 more
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