Results 21 to 30 of about 933 (165)

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

European Journal of Case Reports in Internal Medicine
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 ...
Nuria Reina-Llompart, Soledad Serrano-López, Gabriel Torres-Iglesias, Jorge Álvarez-Troncoso   +3 more
doaj   +4 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   +3 more sources

NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain. [PDF]

Int J Mol Sci
N-glycanase 1 (NGLY1) is a cytoplasmic glycoenzyme that removes N-linked glycans from misfolded glycoproteins. It plays an important role in the endoplasmic reticulum-associated degradation (ERAD) pathway in mammalian cells.
Zhang H, Xue H, Wang YC, Liu Y.
europepmc   +4 more sources

Development of new NGLY1 assay systems – toward developing an early screening method for NGLY1 deficiency [PDF]

Glycobiology
Abstract Cytosolic peptide: N-glycanase (PNGase/NGLY1 in mammals) is an amidase (EC:3.5.1.52) widely conserved in eukaryotes. It catalyzes the removal of N-glycans on glycoproteins, converting N-glycosylated Asn into Asp residues. This enzyme also plays a role in the quality control system for nascent glycoproteins.
Tadashi Suzuki, Hiroto Hirayama, Haruhiko Fujihira   +2 more
exaly   +4 more sources

NGLY1 deficiency: Novel variants and literature review

European Journal of Medical Genetics, 2021
NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders.
Eghbali, Maryam, Shakiba, M., Eghbali, M., Makvand, M., Talebi, Said, Shams, M., Jaeken, J., Kariminejad, Ariana, Talebi, S., Jaeken, Jaak, Najmabadi, Hossein, Najmabadi, H., Kariminejad, A., Namiranian, Parva, Namiranian, P., Hennekam, Raoul C., Hennekam, R.C., Shams, Mehrvash, Shakiba, Marjan, Makvand, Mina   +19 more
core   +5 more sources

NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology

Cells, 2022
N-Glycanase 1 (NGLY1) is a cytosolic enzyme involved in removing N-linked glycans of misfolded N-glycoproteins and is considered to be a component of endoplasmic reticulum-associated degradation (ERAD).
Ashutosh Pandey, Joshua M. Adams, Seung Yeop Han, Hamed Jafar-Nejad   +3 more
doaj   +2 more sources

Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene. [PDF]

PLoS Genetics, 2017
The cytoplasmic peptide:N-glycanase (Ngly1 in mammals) is a de-N-glycosylating enzyme that is highly conserved among eukaryotes. It was recently reported that subjects harboring mutations in the NGLY1 gene exhibited severe systemic symptoms (NGLY1 ...
Haruhiko Fujihira, Yuki Masahara-Negishi, Masaru Tamura, Chengcheng Huang, Yoichiro Harada, Shigeharu Wakana, Daisuke Takakura, Nana Kawasaki, Naoyuki Taniguchi, Gen Kondoh, Tadashi Yamashita, Yoko Funakoshi, Tadashi Suzuki   +12 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   +2 more sources

NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems

Frontiers in Cell and Developmental Biology, 2022
Background: NGLY1 is an enigmatic enzyme with multiple functions across a wide range of species. In humans, pathogenic genetic variants in NGLY1 are linked to a variable phenotype of global neurological dysfunction, abnormal tear production, and liver ...
David Karasik, Tzipora C Falik-Zaccai, Limor Kalfon   +2 more
exaly   +3 more sources

Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation [PDF]

eLife, 2020
During endoplasmic reticulum-associated degradation (ERAD), the cytoplasmic enzyme N-glycanase 1 (NGLY1) is proposed to remove N-glycans from misfolded N-glycoproteins after their retrotranslocation from the ER to the cytosol. We previously reported that
Antonio Galeone, Joshua M Adams, Shinya Matsuda, Maximiliano F Presa, Ashutosh Pandey, Seung Yeop Han, Yuriko Tachida, Hiroto Hirayama, Thomas Vaccari, Tadashi Suzuki, Cathleen M Lutz, Markus Affolter, Aamir Zuberi, Hamed Jafar-Nejad   +13 more
doaj   +4 more sources