Results 11 to 20 of about 1,211 (133)

Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation [PDF]

Nutrients, 2022
The cytosolic PNGase (peptide:N-glycanase), also known as peptide-N4-(N-acetyl-β-glucosaminyl)-asparagine amidase, 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 (Asn, N) into a N-acetyl-β-d-glucosaminyl-amine and a peptide containing an ...
Xiangguang Miao, Jin Wu, Hongping Chen, Guanting Lu   +3 more
europepmc   +5 more sources

An Induced Pluripotent Stem Cell‐Derived Neuromuscular Junction Platform for Study of the NGLY1‐Congenital Disorder of Deglycosylation [PDF]

Advanced Therapeutics, 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.
Trevor Sasserath, Ashley L. Robertson, Roxana Mendez, Tristan T. Hays, Ethan Smith, Helena Cooper, Nesar Akanda, John W. Rumsey, Xiufang Guo, Atena Farkhondeh, Manisha Pradhan, Karsten Baumgaertel, Matthew Might, Steven Rodems, Wei Zheng, James J. Hickman   +15 more
europepmc   +4 more sources

A congenital disorder of deglycosylation: Biochemical characterization ofN-glycanase 1 deficiency in patient fibroblasts [PDF]

Glycobiology, 2015
N-Glycanase 1, encoded by NGLY1, catalyzes the deglycosylation of misfolded N-linked glycoproteins retrotranslocated into the cytosol. We identified nine cases with mutations in NGLY1. The patients show developmental delay, seizures, peripheral neuropathy, abnormal liver function and alacrima (absence of tears).
Ping, He, Jeff E, Grotzke, Bobby G, Ng, Murat, Gunel, Hamed, Jafar-Nejad, Peter, Cresswell, Gregory M, Enns, Hudson H, Freeze   +7 more
openaire   +3 more sources

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   +2 more sources

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

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
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
Aviv Mesika, Golan Nadav, Sapir Ben‐David, Limor Kalfon, Chen Shochat, Rana Nasra, Alejandro Livoff, David Karasik, Tzipora C. Falik‐Zaccai   +8 more
wiley   +2 more sources

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

JIMD Reports, Volume 66, Issue 3, May 2025.
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 ...
Nobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada   +2 more
wiley   +2 more sources

Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management [PDF]

Front Endocrinol (Lausanne), 2023
Congenital hyperinsulinemia (CHI), is a clinically heterogeneous disorder that presents as a major cause of persistent and recurrent hypoglycemia during infancy and childhood. There are 16 subtypes of CHI-related genes.
Congli Chen, Yanmei Sang
core   +2 more sources

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

Journal of Inherited Metabolic Disease, Volume 46, Issue 1, Page 76-91, January 2023., 2023
Abstract 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.
Rohit Budhraja, Mayank Saraswat, Diederik De Graef, Wasantha Ranatunga, Madan G. Ramarajan, Jehan Mousa, Tamas Kozicz, Akhilesh Pandey, Eva Morava   +8 more
wiley   +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
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   +4 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