Results 161 to 170 of about 1,366 (180)
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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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Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation [PDF]
Genetics in Medicine, 2017 The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum of NGLY1 deficiency (NGLY1-CDDG).Prospective natural history protocol.In 12 individuals ages 2 to 21 ...
Christina Lam +2 more
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NGLY1: A fascinating, multifunctional molecule
Biochimica et Biophysica Acta (BBA) - General SubjectsNGLY1, 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
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New perspectives on the mutated NGLY1 enigma
Medical Hypotheses, 2015The 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.
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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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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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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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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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Physiological importance of NGLY1, as revealed by rodent model analyses
Journal of Biochemistry, 2022Makoto Asahina, Tadashi Suzuki
exaly
Une nouvelle étiologie complexe d’insuffisance surrénale : le NGLY1 CDDG
Annales d'Endocrinologie, 2022C. Lefèvre +6 more
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