Results 11 to 20 of about 756 (108)

Congenital disorder of deglycosylation 2. Report of a novel MAN2C1 pathogenic variant and additional phenotypic implications [PDF]

Molecular Genetics and Metabolism Reports
The MAN2C1 gene encodes an enzyme with alpha-mannosidase 2C1 activity, which is responsible for the degradation of defective glycoproteins in the cytoplasm.
Rafael Luis Aguirre-Guillen, Luis Ángel Arredondo-Navarro, María Fernanda Hernández-Rodríguez, Martín-De La Torre Eduardo, Contreras Peregrina María del Rosario, Mayra Alejandra Arce-Lozoya, Estefanía Ochoa-Padilla, Víctor Ulises Rodríguez-Machuca   +7 more
doaj   +3 more sources

Sugar coating autophagy: exploring the links between the inhibition of NGLY1 (N-glycanase 1) and autophagy induction [PDF]

Autophagy Reports, 2023
The cytosolic enzyme NGLY1 (N-glycanase 1) is a central mediator of glycoprotein catabolism. The enzyme acts to cleave N-linked glycans from modified substrate asparagine residues prior to degradation of misfolded proteins by the proteasome, playing a ...
Holger B. R. Kramer, Sarah Ann Allman
doaj   +3 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   +3 more sources

Congenital Disorder of Deglycosylation [PDF]

Definitions, 2020
A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements ...
openaire   +2 more sources

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature

European Journal of Medical Genetics, 2023
NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have been documented in patients with CDDG1; however, deteriorating phenotypes of affected individuals remain elusive.
Yuri Sonoda, Atsushi Fujita, Michiko Torio, Takahiko Mukaino, Ayumi Sakata, Masaru Matsukura, Kousuke Yonemoto, Ken Hatae, Yuko Ichimiya, Pin Fee Chong, Masayuki Ochiai, Yoshinao Wada, Machiko Kadoya, Nobuhiko Okamoto, Yoshiko Murakami, Tadashi Suzuki, Noriko Isobe, Hiroshi Shigeto, Naomichi Matsumoto, Yasunari Sakai, Shouichi Ohga   +20 more
openaire   +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

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, Anna Bogdańska, Agnieszka Różdżyńska‐Świątkowska, Aldona Wierzbicka‐Rucińska, Anna Tylki‐Szymańska   +4 more
doaj   +2 more sources

A conserved role for AMP-activated protein kinase in NGLY1 deficiency.

PLoS Genetics, 2020
Mutations in human N-glycanase 1 (NGLY1) cause the first known congenital disorder of deglycosylation (CDDG). Patients with this rare disease, which is also known as NGLY1 deficiency, exhibit global developmental delay and other phenotypes including ...
Seung Yeop Han, Ashutosh Pandey, Tereza Moore, Antonio Galeone, Lita Duraine, Tina M Cowan, Hamed Jafar-Nejad   +6 more
doaj   +2 more sources

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

J Inherit Metab Dis
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).
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

N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts. [PDF]

J Inherit Metab Dis, 2023
Congenital disorders of glycosylation are genetic disorders that occur due to defects in protein and lipid glycosylation pathways. A deficiency of N‐glycanase 1, encoded by the NGLY1 gene, results in a congenital disorder of deglycosylation.
Budhraja R, Budhraja R, Saraswat M, De Graef D, Ranatunga W, Ramarajan MG, Mousa J, Kozicz T, Pandey A, Morava E.   +9 more
europepmc   +2 more sources