Results 11 to 20 of about 954 (147)

NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry [PDF]

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   +5 more sources

AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency [PDF]

Molecular Therapy: Methods & Clinical Development, 2022
N-glycanase 1 (NGLY1) Deficiency is a progressive, ultra-rare, autosomal recessive disorder with no approved therapy and five core clinical features: severe global developmental delay, hyperkinetic movement disorder, elevated liver transaminases ...
Lei Zhu, Brandon Tan, Selina S. Dwight, Brendan Beahm, Matt Wilsey, Brett E. Crawford, Becky Schweighardt, Jennifer W. Cook, Thomas Wechsler, William F. Mueller   +9 more
doaj   +5 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   +3 more sources

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

Glycobiology
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
Hirayama H, Fujihira H, Suzuki T.
europepmc   +4 more sources

NGLY1 deficiency: a prospective natural history study. [PDF]

Hum Mol Genet, 2023
N-glycanase 1 (NGLY1) Deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic enzyme that deglycosylates other proteins.
Tong S, Ventola P, Frater CH, Klotz J, Phillips JM, Muppidi S, Dwight SS, Mueller WF, Beahm BJ, Wilsey M, Lee KJ.   +10 more
europepmc   +4 more sources

The STING pathway drives noninflammatory neurodegeneration in NGLY1 deficiency. [PDF]

J Exp Med
NGLY1 deficiency is an early-onset neurodegenerative disorder with no effective therapy. Here, we describe an inducible Ngly1 knockout mouse model, iNgly1−/−, that reveals pronounced loss of Purkinje cells in the cerebellum without neuroinflammation ...
Yang K, Torres-Ramirez G, Dobbs N, Han J, Asahina M, Fujinawa R, Song K, Liu Y, Lin W, Oviedo A, Chen C, Zhu L, Mueller WF, Lee K, Suzuki T, Yan N.   +15 more
europepmc   +3 more sources

An Assay System for Plate-based Detection of Endogenous Peptide:N-glycanase/NGLY1 Activity Using A Fluorescence-based Probe [PDF]

Bio-Protocol
Cytosolic peptide: N-glycanase (PNGase/NGLY1 in mammals), an amidase classified under EC:3.5.1.52, is a highly conserved enzyme across eukaryotes that catalyzes the removal of N-glycans from glycoproteins, converting N-glycosylated asparagine residues ...
Hiroto Hirayama, Tadashi Suzuki
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

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

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   +2 more sources