Results 1 to 10 of about 885 (109)

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
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Generation and characterization of NGLY1 patient-derived midbrain organoids [PDF]

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 Abbott, Mitali Tambe, Ivan Pavlinov, Atena Farkhondeh, Ha Nam Nguyen, Ha Nam Nguyen, Miao Xu, Manisha Pradhan, Tate York, Matthew Might, Karsten Baumgärtel, Steven Rodems, Wei Zheng   +12 more
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Intranasal oxytocin suppresses seizure-like behaviors in a mouse model of NGLY1 deficiency [PDF]

Communications Biology
NGLY1 deficiency is a genetic disease caused by biallelic mutations of the Ngly1 gene. Although epileptic seizure is one of the most severe symptoms in patients with NGLY1 deficiency, preclinical studies have not been conducted due to the lack of animal ...
Yukimasa Makita, Makoto Asahina, Reiko Fujinawa, Hiroshi Yukitake, Tadashi Suzuki   +4 more
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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
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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
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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
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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
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Functional prediction of the potential NGLY1 mutations associated with rare disease CDG [PDF]

Heliyon
Genetic diseases are currently diagnosed by functional mutations. However, only some mutations are associated with disease. It is necessary to establish a quick prediction model for clinical screening. Pathogenic mutations in NGLY1 cause a rare autosomal
Shuying Yuan, Yanwen Chen, Lin Zou, Xinrong Lu, Ruijie Liu, Shaoxing Zhang, Yuxin Zhang, Cuiying Chen, Dongqing Cheng, Li Chen, Guiqin Sun   +10 more
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Preclinical pharmacology and safety studies to support an AAV9 NGLY1 gene therapy clinical trial for the treatment of NGLY1 deficiency [PDF]

Molecular Therapy: Methods & Clinical Development
GS-100 is an AAV9 gene replacement therapy for the treatment of N-glycanase 1 (NGLY1) deficiency, an ultra-rare, recessive disorder characterized by developmental delay, intellectual disability, hyperkinetic movement disorder, elevated liver enzymes ...
Lei Zhu, Jennifer W. Cook, Alicia Newton, Selina S. Dwight, Brendan Beahm, Matt Wilsey, William F. Mueller, Becky Schweighardt   +7 more
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Systemic gene therapy corrects the neurological phenotype in a mouse model of NGLY1 deficiency [PDF]

JCI Insight
The cytoplasmic peptide:N-glycanase (NGLY1) is ubiquitously expressed and functions as a de–N-glycosylating enzyme that degrades misfolded N-glycosylated proteins.
Ailing Du, Kun Yang, Xuntao Zhou, Lingzhi Ren, Nan Liu, Chen Zhou, Jialing Liang, Nan Yan, Guangping Gao, Dan Wang   +9 more
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