Results 61 to 70 of about 933 (165)

NGLY1: insights from Caenorhabditis elegans [PDF]

The Journal of Biochemistry, 2021
Abstract Peptide:N-glycanase is an evolutionarily conserved deglycosylating enzyme that catalyses the removal of N-linked glycans from cytosolic glycoproteins. Recessive mutations that inactivate this enzyme cause NGLY1 deficiency, a multisystemic disorder with symptoms including developmental delay and defects in cognition and motor ...
openaire   +2 more sources

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

J Exp Med
The STING pathway is increasingly recognized as a key regulator of neuroinflammation in neurodegenerative disease, but its role in noninflammatory conditions remains unclear. We generated a postnatal inducible whole-body Ngly1 knockout mouse (iNgly1−/−) to model NGLY1 deficiency, an early-onset neurodegenerative disorder.
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

NGLY1 Deficiency Affects Glycosaminoglycan Biosynthesis and Wnt Signaling Pathway in Mice [PDF]

, 2022
Individuals affected by NGLY1 Deficiency cannot properly deglycosylate and recycle certain proteins. Even though less than 100 people worldwide have been diagnosed with this rare autosomal recessive condition, thousands are affected by similar ...
Batten, Amy
core   +1 more source

Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation

Frontiers in Pediatrics, 2021
Background: Congenital disorders of glycosylation (CDG) and NGLY1-CDDG (NGLY1-congenital disorder of deglycosylation) usually represent multisystem (especially neurovisceral) diseases with liver involvement reported in some of them.
Patryk Lipiński, Anna Bogdańska, Piotr Socha, Anna Tylki-Szymańska   +3 more
doaj   +1 more source

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation

BMC Medical Genetics, 2020
Background NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor ...
Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan, ZhongqinJin   +6 more
doaj   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Posttranslational Modifications of p62/SQSTM1 in Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Schematic illustration of p62 as a posttranslational modifications (PTMs)‐programmed integrator in homeostasis, pathogenesis, and therapeutic targeting. (Left) Homeostasis: In physiological states, p62, through various PTMs such as phosphorylation, ubiquitination, and acetylation, coordinates essential cellular functions.
Weikai Wang, Xin Jiang, Runing Qiu, Chandra Sugiarto Wijaya, Miaoqin Chen, Jin Wang, Liyuan Zhu, Hongchuan Jin, Lifeng Feng   +8 more
wiley   +1 more source

Patient-derived gene and protein expression signatures of NGLY1 deficiency

The Journal of Biochemistry, 2021
Abstract N-Glycanase 1 (NGLY1) deficiency is a rare and complex genetic disorder. Although recent studies have shed light on the molecular underpinnings of NGLY1 deficiency, a systematic characterization of gene and protein expression changes in patient-derived cells has been lacking.
Benedikt, Rauscher, William F, Mueller, Sandra, Clauder-Münster, Petra, Jakob, M Saiful, Islam, Han, Sun, Sonja, Ghidelli-Disse, Markus, Boesche, Marcus, Bantscheff, Hannah, Pflaumer, Paul, Collier, Bettina, Haase, Songjie, Chen, Rene, Hoffman, Guangwen, Wang, Vladimir, Benes, Gerard, Drewes, Michael, Snyder, Lars M, Steinmetz   +18 more
openaire   +2 more sources

Cytosolic O-GlcNAcylation and PNG1 maintain Drosophila gut homeostasis by regulating proliferation and apoptosis.

PLoS Genetics, 2022
Tissue homeostasis requires a delicate balance between stem cell self-renewal, proliferation, and differentiation. Essential to this process is glycosylation, with both intra-and extra-cellular glycosylation being required for stem cell homeostasis ...
Hyun-Jin Na, Lara K Abramowitz, John A Hanover   +2 more
doaj   +1 more source

A formalization of one of the main claims of “Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway” by Enns et al. 2014

Data Science, 2022
Enns et al. claimed in previous work that NGLY1 deficiency is a novel autosomal recessive disorder of the ERAD pathway. We present here a formalization of that claim, stating that all things of class “NGLY1 deficiency” that are in the context of a thing ...
Núria Queralt-Rosinach
doaj   +1 more source