Results 1 to 10 of about 933 (165)

NGLY1 mutations cause protein aggregation in human neurons [PDF]

Cell Reports, 2023
Summary: Biallelic mutations in the gene that encodes the enzyme N-glycanase 1 (NGLY1) cause a rare disease with multi-symptomatic features including developmental delay, intellectual disability, neuropathy, and seizures. NGLY1’s activity in human neural
April E Williams, Kevin J Lee, Fred Gage
exaly   +10 more sources

A Natural Compound Containing a Disaccharide Structure of Glucose and Rhamnose Identified as Potential N-Glycanase 1 (NGLY1) Inhibitors [PDF]

Molecules, 2023
N-glycanase 1 (NGLY1) is an essential enzyme involved in the deglycosylation of misfolded glycoproteins through the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which could hydrolyze N-glycan from N-glycoprotein or N-glycopeptide in ...
Ruijie Liu, Jingjing Gu, Yilin Ye, Yuxin Zhang, Shaoxing Zhang, Qiange Lin, Shuying Yuan, Yanwen Chen, Xinrong Lu, Yongliang Tong, Shaoxian Lv, Li Chen, Guiqin Sun   +12 more
doaj   +3 more sources

Natural SEL1L variants rescue a model of NGLY1 deficiency and modify ERAD function and proteasome sensitivity. [PDF]

PLoS Genetics
N-glycanase 1 (NGLY1) deficiency is an ultra-rare disease caused by autosomal recessive loss-of-function mutations in the NGLY1 gene. NGLY1 removes N-linked glycans from glycoproteins in the cytoplasm and is thought to help clear misfolded proteins from ...
Travis K Tu'ifua, Clement Y Chow
doaj   +3 more sources

Generation and characterization of NGLY1 patient-derived midbrain organoids

Frontiers in Cell and Developmental Biology, 2023
NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan.
Joshua M Abbott, Atena Farkhondeh
exaly   +5 more sources

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

Journal of Inherited Metabolic Disease
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
David Karasik, Tzipora C Falik-Zaccai, Alejandro Livoff   +2 more
exaly   +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   +3 more sources

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

JIMD Reports
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
Nobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada   +2 more
doaj   +3 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

Progressive neurodegeneration, motor decline, and premature mortality in aging Ngly1 deficient rats [PDF]

Orphanet Journal of Rare Diseases
Background N-glycanase 1 (NGLY1) Deficiency is an ultra-rare autosomal recessive disorder of deglycosylation caused by loss-of-function mutations in the NGLY1 gene. Patients present with developmental delay, intellectual disability, hyperkinetic movement
Lei Zhu, Selina Dwight, William F. Mueller, Becky Schweighardt   +3 more
doaj   +2 more sources

The TG2/LRP1 Pathway for T Cell Activation by Post-Translationally Modified Antigens. [PDF]

Immunol Rev
ABSTRACT Post‐translational modifications (PTMs) can generate neo‐epitopes, modified peptides that evade immune tolerance and trigger immune responses. This review focuses on the TG2/LRP1 pathway as a new paradigm for coupling the formation of post‐translationally modified peptides with their effective presentation as T‐cell antigens by dendritic cells.
Sewa AS, Yang FC, Khosla C.
europepmc   +2 more sources