Results 21 to 30 of about 422,094 (137)

Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry [PDF]

Orphanet Journal of Rare Diseases, 2019
Background NGLY1 deficiency is a rare autosomal recessive disorder caused by loss in enzymatic function of NGLY1, a peptide N-glycanase that has been shown to play a role in endoplasmic reticulum associated degradation (ERAD).
Eli M. Cahan, Steven L. Frick
doaj   +5 more sources

Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches [PDF]

Human Molecular Genetics, 2018
Autosomal recessive loss-of-function mutations in N-glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction and alacrima. NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD ...
Clement Chow, Matthew Might
exaly   +5 more sources

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

Hum Mol Genet, 2023
Abstract 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. It is characterized by severe global developmental delay and/or intellectual disability, hyperkinetic movement disorder, transient elevation of
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   +3 more sources

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency [PDF]

PLoS Genetics, 2022
NGLY1 deficiency, a rare disease with no effective treatment, is caused by autosomal recessive, loss-of-function mutations in the N-glycanase 1 (NGLY1) gene and is characterized by global developmental delay, hypotonia, alacrima, and seizures.
Kevin A. Hope, Alexys R. Berman, Randall T. Peterson, Clement Y. Chow   +3 more
doaj   +4 more sources

Correction to: Reversibility of motor dysfunction in the rat model of NGLY1 deficiency [PDF]

Molecular Brain, 2021
Makoto Asahina, Reiko Fujinawa, Hiroto Hirayama, Ryuichi Tozawa, Yasushi Kajii, Tadashi Suzuki   +5 more
doaj   +4 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

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

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

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

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
Andreea Manole, Thomas Wong, Amanda Rhee, Sammy Novak, Shao-Ming Chin, Katya Tsimring, Andres Paucar, April Williams, Traci Fang Newmeyer, Simon T. Schafer, Idan Rosh, Susmita Kaushik, Rene Hoffman, Songjie Chen, Guangwen Wang, Michael Snyder, Ana Maria Cuervo, Leo Andrade, Uri Manor, Kevin Lee, Jeffrey R. Jones, Shani Stern, Maria C. Marchetto, Fred H. Gage   +23 more
doaj   +2 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