Results 81 to 90 of about 954 (147)
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm
JIMD Reports, 2020 Objectives Together with the lysosomal storage diseases, NGLY1 deficiency is a congenital disorder of deglycosylation (NGLY1‐CDDG). Since the first report in 2012, 26 patients have been described. All but one were diagnosed by exome or genome sequencing;
Patryk Lipiński +4 more
doaj +1 more source
Dysregulated proteome and N‐glycoproteome in ALG1‐deficient fibroblasts
PROTEOMICS, Volume 24, Issue 15, August 2024.Abstract Asparagine‐linked glycosylation 1 protein is a β‐1,4‐mannosyltransferase, is encoded by the ALG1 gene, which catalyzes the first step of mannosylation in N‐glycosylation. Pathogenic variants in ALG1 cause a rare autosomal recessive disorder termed as ALG1‐CDG.
Rohit Budhraja +5 more
wiley +1 more source
Stem Cell Research, 2019 NGLY1 deficiency is a rare inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a
Shu Yang +10 more
doaj +1 more source
British Journal of Haematology, Volume 204, Issue 4, Page 1439-1449, April 2024.Modern anti‐CD38 monoclonal antibodies daratumumab and isatuximab have been associated with impairment of CD34+ cell mobilisation but the mechanism was not elucidated so far. In this study, we investigated the effect of three different regimens (dara‐VCd, isa‐KRd and VTd) on CD34+ cells and the findings suggest that upregulated adhesion‐related ...
Ondrej Venglar +18 more
wiley +1 more source
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 ...
Lam, Christina +23 more
openaire +4 more sources
Disease Models & Mechanisms, 2019 N-glycanase 1 (NGLY1) deficiency is an ultra-rare and complex monogenic glycosylation disorder that affects fewer than 40 patients globally. NGLY1 deficiency has been studied in model organisms such as yeast, worms, flies and mice.
Sangeetha Iyer +8 more
doaj +1 more source
Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1
eLife, 2017 Mutations in the human N-glycanase 1 (NGLY1) cause a rare, multisystem congenital disorder with global developmental delay. However, the mechanisms by which NGLY1 and its homologs regulate embryonic development are not known. Here we show that Drosophila
Antonio Galeone +5 more
doaj +1 more source
JIMD Reports, 2019 We report on a 5‐year‐old female born to consanguineous parents, ascertained at the age of 23 months for an elevated plasma methionine level, a mildly abnormal total plasma homocysteine (tHcy), and elevated aminotransferases. She had global developmental
Caitlin A. Chang +4 more
doaj +1 more source
Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry
Orphanet Journal of Rare Diseases, 2019 Background NGLY1 deficiency is a rare autosomal recessive disorder caused by loss in enzymatic function of NGLY1, a peptide N-glycanase that has been shown to play a role in endoplasmic reticulum associated degradation (ERAD).
Eli M. Cahan, Steven L. Frick
doaj +1 more source
Quantifying Kinematic Tremor in an NGLY1-Deficient Individual: A Case Study
Case Reports in Clinical MedicineNGLY1 Deficiency is an autosomal recessive congenital disorder that has been identified in less than 100 individuals. Most individuals with NGLY1 Deficiency display hyperkinetic movement disorders, including choreiform, athetoid, dystonic myoclonic ...
Brock Futrell +8 more
semanticscholar +1 more source