Results 11 to 20 of about 167,517,803 (126)

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Molecular Genetics and Metabolism, 2019
NGLY1-CDDG is a congenital disorder of deglycosylation caused by a defective peptide:N-glycanase (PNG). To date, all but one of the reported patients have been diagnosed through whole-exome or whole-genome sequencing, as no biochemical marker was available to identify this disease in patients.
Berthil Prinsen, Peter M van Hasselt, Nanda M Verhoeven-Duif   +2 more
exaly   +7 more sources

An induced pluripotent stem cell-derived NMJ platform for study of the NGLY1-Congenital Disorder of Deglycosylation. [PDF]

Adv Ther (Weinh), 2022
AbstractThere are many neurological rare diseases where animal models have proven inadequate or do not currently exist. NGLY1 deficiency, a congenital disorder of deglycosylation, is a rare disease that predominantly affects motor control, especially control of neuromuscular action.
Sasserath T, Robertson AL, Mendez R, Hays TT, Smith E, Cooper H, Akanda N, Rumsey JW, Guo X, Farkhondeh A, Pradhan M, Baumgaertel K, Might M, Rodems S, Zheng W, Hickman JJ.   +15 more
europepmc   +3 more sources

Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants [PDF]

Cells
NGLY1 deficiency is a congenital disorder of deglycosylation, caused by pathogenic variants of the NGLY1 gene. It manifests as global developmental delay, hypo- or alacrima, hypotonia, and a primarily hyperkinetic movement disorder.
Antje Banning, Lukas Hoeren, Isis Atallah, Ralph Orczyk, David Jacquier, Diana Ballhausen, Ritva Tikkanen   +6 more
doaj   +2 more sources

A congenital disorder of deglycosylation: biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts (607.3)

FASEB Journal, 2014
N‐glycanase 1, encoded by NGLY1, catalyzes the deglycosylation of misfolded N‐linked glycoproteins. Using whole‐genome and ‐exome sequencing, we identified 6 cases with mutations in NGLY1. The patients show developmental delay, seizures, peripheral neuropathy, abnormal liver function, and absent tears.
Hamed Jafar-Nejad, Murat Günel, Peter Cresswell   +2 more
exaly   +2 more sources

Functional prediction of the potential NGLY1 mutations associated with rare disease CDG [PDF]

Heliyon
Genetic diseases are currently diagnosed by functional mutations. However, only some mutations are associated with disease. It is necessary to establish a quick prediction model for clinical screening. Pathogenic mutations in NGLY1 cause a rare autosomal
Shuying Yuan, Yanwen Chen, Lin Zou, Xinrong Lu, Ruijie Liu, Shaoxing Zhang, Yuxin Zhang, Cuiying Chen, Dongqing Cheng, Li Chen, Guiqin Sun   +10 more
doaj   +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

Impacts of N-glycanase1 (NGLY1) Down Regulation on the Function of Mitochondria. [PDF]

J Cell Biochem
ABSTRACT N‐glycanase 1 (NGLY1) is involved in intracellular misfolded protein degradation, releasing a de‐N‐glycosylated protein and a complete N‐oligosaccharide. Enzymatic defects in NGLY1 may cause NGLY1‐related congenital disorder of deglycosylation (NGLY1‐CDDG). NGLY1 patients exhibit cognition and coordination defects, and the regulatory impact of
Chen Y, Liu R, Zhang S, Zhang Y, Lin Q, Ye Y, Yuan S, Lu X, Wang L, Chen L, Sun G.   +10 more
europepmc   +2 more sources

Impaired Proteostasis is Linked to Neurological Pathology in a Zebrafish NGLY1 Deficiency Model. [PDF]

J Inherit Metab Dis
ABSTRACT NGLY1 is a key enzyme in the process of misfolded protein deglycosylation. Bi‐allelic pathogenic variants in NGLY1 cause N‐glycanase deficiency, also known as congenital disorder of deglycosylation (NGLY1‐CDDG). This rare and multisystem autosomal recessive disorder is linked to a variable phenotype of global developmental delay, neuromuscular
Mesika A, Nadav G, Ben-David S, Kalfon L, Shochat C, Nasra R, Livoff A, Karasik D, Falik-Zaccai TC.   +8 more
europepmc   +2 more sources

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

Life, 2021
NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequencing.
Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret, Gaël Nicolas, Abdellah Tebani, Soumeya Bekri   +12 more
doaj   +1 more source

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan. [PDF]

JIMD Rep
ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from ...
Okamoto N, Kadoya M, Wada Y.
europepmc   +2 more sources