Results 21 to 30 of about 1,211 (133)

Dysregulated proteome and N‐glycoproteome in ALG1‐deficient fibroblasts [PDF]

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, Neha Joshi, Silvia Radenkovic, Tamas Kozicz, Eva Morava, Akhilesh Pandey   +5 more
wiley   +2 more sources

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2 [PDF]

Molecular Genetics &Genomic Medicine, Volume 12, Issue 4, April 2024.
Congenital disorders of glycosylation with novel phenotypes and disruptive N‐glycan profiling caused by compound heterozygous MAN2B2 variants (NM_015274.1, c.384G>T; c.926T>A). Abstract Background Congenital disorders of glycosylation (CDG) are a type of inborn error of metabolism (IEM) resulting from defects in glycan synthesis or failed attachment of
Shiqi Fan, Huanhuan Wu, Rongrong Wang, Qian Chen, Xue Zhang   +4 more
wiley   +2 more sources

Editorial: Inherited Protein Glycosylation Defects in Humans [PDF]

Frontiers in Genetics, 2022
Aleksandra Jezela-Stanek, Karolina M. Stepien, Anna Tylki-Szymanska   +2 more
doaj   +2 more sources

Tofacitinib improves motor symptoms in parkinsonism associated with a heterozygous NGLY1 variant and autoimmune disease [PDF]

Eur J Case Rep Intern Med
Introduction: Levodopa-refractory parkinsonism poses a significant diagnostic and therapeutic challenge. Variants in N-glycanase 1 (NGLY1), a key gene in proteostasis, have been associated with movement disorders, and the Janus kinase/signal transducer ...
Gabriel Torres-Iglesias, Jorge Álvarez-Troncoso, Nuria Reina-Llompart, Soledad Serrano-López   +3 more
core   +3 more sources

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

Orphanet Journal of Rare Diseases, 2022
Purpose NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and clinical features of the largest cohort of NGLY1 Deficiency patients reported
Caroline R. Stanclift, Selina S. Dwight, Kevin Lee, Quirine L. Eijkenboom, Matt Wilsey, Kristen Wilsey, Erica Sanford Kobayashi, Sandra Tong, Matthew N. Bainbridge   +8 more
doaj   +1 more source

Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency

Postepy biochemii, 2020
Together with the lysosomal storage diseases, N-glycanase 1 deficiency is a congenital disorder of deglycosylation, which has been diagnosed in 27 patients, including two of them from Poland. The pathogenesis remains unknown, however, the main role is attributed to the disturbed endoplasmic reticulum-associated protein degradation process.
Patryk, Lipiński, Anna, Tylki-Szymańska   +1 more
openaire   +2 more sources

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2019–2020

Mass Spectrometry Reviews, Volume 42, Issue 5, Page 1984-2206, September/October 2023., 2023
Abstract This review is the tenth update of the original article published in 1999 on the application of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry to the analysis of carbohydrates and glycoconjugates and brings coverage of the literature to the end of 2020.
David J. Harvey
wiley   +1 more source

Genetic disruption of mammalian endoplasmic reticulum‐associated protein degradation: Human phenotypes and animal and cellular disease models

Traffic, Volume 24, Issue 8, Page 312-333, August 2023., 2023
Degradation of unassembled, misfolded, and other defective proteins is mediated by a major quality control mechanism, named the endoplasmic reticulum‐associated protein degradation (ERAD). Throughout this manuscript, we present the various genetically manipulated higher cellular and mammalian animal models that were depleted for specific ERAD ...
Sally Badawi, Feda E. Mohamed, Divya Saro Varghese, Bassam R. Ali   +3 more
wiley   +1 more source

Peptide: N-Glycanase 1 and Its Relationship with Congenital Disorder of Deglycosylation

, 2022
The cytosolic PNGase (peptide:N-glycanase; Png1 in yeast; NGLY1/Ngly1 in human/mice), also known as peptide-N4-(N-acetyl-beta-glucosaminyl)-asparagine ami-dase, is a well-conserved deglycosylation enzyme (EC 3.5.1.52) which catalyzes the non-lysosomal hydrolysis of an N(4)-(acetyl-β-D-glucosaminyl) asparagine residue into N-acetyl-β-D-
Xiangguang Miao, Jin Wu, Hongping Chen, Guanting Lu   +3 more
openaire   +1 more source

Protein posttranslational modifications in health and diseases: Functions, regulatory mechanisms, and therapeutic implications

MedComm, Volume 4, Issue 3, June 2023., 2023
The reversible and irreversible protein posttranslational modifications, such as acetylation, methylation, phosphorylation, ubiquitination, glycosylation, SUMOylation, and redox modifications, are essential regulators in organisms and cells. This work systematically summarizes the features, regulatory mechanisms, substrates, functions, and related ...
Qian Zhong, Xina Xiao, Yijie Qiu, Zhiqiang Xu, Chunyu Chen, Baochen Chong, Xinjun Zhao, Shan Hai, Shuangqing Li, Zhenmei An, Lunzhi Dai   +10 more
wiley   +1 more source