Zobrazeno 1 - 10
of 280
pro vyhledávání: '"NGLY1"'
Autor:
Lei Zhu, Brandon Tan, Selina S. Dwight, Brendan Beahm, Matt Wilsey, Brett E. Crawford, Becky Schweighardt, Jennifer W. Cook, Thomas Wechsler, William F. Mueller
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 259-271 (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, ala
Externí odkaz:
https://doaj.org/article/fc8806dc850d435e8186ae57cbee6eca
Autor:
Holger B. R. Kramer, Sarah Ann Allman
Publikováno v:
Autophagy Reports, Vol 2, Iss 1 (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
Externí odkaz:
https://doaj.org/article/47c5ee5fc2fd4679a6bcdc0d52a8a50f
Autor:
Caroline R. Stanclift, Selina S. Dwight, Kevin Lee, Quirine L. Eijkenboom, Matt Wilsey, Kristen Wilsey, Erica Sanford Kobayashi, Sandra Tong, Matthew N. Bainbridge
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract 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 pati
Externí odkaz:
https://doaj.org/article/22e982c08c3c4e699db286ae244a6d50
Autor:
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
Publikováno v:
Molecules, Vol 28, Iss 23, p 7758 (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
Externí odkaz:
https://doaj.org/article/9c903130e3ae49209d0ae66005cb71bc
Autor:
Joshua Abbott, Mitali Tambe, Ivan Pavlinov, Atena Farkhondeh, Ha Nam Nguyen, Miao Xu, Manisha Pradhan, Tate York, Matthew Might, Karsten Baumgärtel, Steven Rodems, Wei Zheng
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (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. Patients with pathogenic mutations in NGLY1 have complex clinical symptoms including g
Externí odkaz:
https://doaj.org/article/82f3d9bc8e174166b565226d795f1a90
Autor:
Makoto Asahina, Reiko Fujinawa, Hiroto Hirayama, Ryuichi Tozawa, Yasushi Kajii, Tadashi Suzuki
Publikováno v:
Molecular Brain, Vol 14, Iss 1, Pp 1-12 (2021)
Abstract N-glycanase 1 (NGLY1) deficiency is a rare inherited disorder characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, motor deficits, and other neurological symptoms. The underlying mechanisms of the
Externí odkaz:
https://doaj.org/article/a8c595188b1343ea9241c197d3bf8bbd
Akademický článek
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Akademický článek
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Autor:
Aviv Mesika, Golan Nadav, Chen Shochat, Limor Kalfon, Karen Jackson, Ayat Khalaileh, David Karasik, Tzipora C. Falik-Zaccai
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (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 live
Externí odkaz:
https://doaj.org/article/2983d13944c74f0ba1fc66bb54de42d8
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-4 (2020)
Abstract 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, a
Externí odkaz:
https://doaj.org/article/398889eb65c14e5ca39fcd34dd1744e5