Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
about
Neurological aspects of human glycosylation disordersGene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial featuresEndo-β-N-acetylglucosaminidase forms N-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cellsThe cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functionsData sharing in the undiagnosed diseases network.Web-based Gene Pathogenicity Analysis (WGPA): a web platform to interpret gene pathogenicity from personal genome dataLethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene.NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.The cytoplasmic peptide:N-glycanase (Ngly1)-basic science encounters a human genetic disorder.Novel genetic causes for cerebral visual impairmentThe intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes.Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.Cerebral visual impairment and intellectual disability caused by PGAP1 variantsHuman genome-wide RNAi screen reveals host factors required for enterovirus 71 replication.It takes a genome to understand a village: Population scale precision medicine.Novel small molecule binders of human N-glycanase 1, a key player in the endoplasmic reticulum associated degradation pathway.Generation and degradation of free asparagine-linked glycans.The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Mining for mitochondrial mechanisms: linking known syndromes to mitochondrial function.Family-Specific Variants and the Limits of Human Genetics.Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.Participant-driven matchmaking in the genomic era.Enzymatic insights into an inherited genetic disorder.Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1.A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblastsProteasome dysfunction triggers activation of SKN-1A/Nrf1 by the aspartic protease DDI-1.Inhibition of NGLY1 Inactivates the Transcription Factor Nrf1 and Potentiates Proteasome Inhibitor Cytotoxicity.Cytosolic-free oligosaccharides are predominantly generated by the degradation of dolichol-linked oligosaccharides in mammalian cells.Mitochondrial function requires NGLY1.Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.What happens when N = 1 and you want plus 1?Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency.
P2860
Q26830686-3992E9A2-960F-4C02-8024-30329380E552Q28270890-12065C47-9AB7-422D-ABC6-90C7DE854AFDQ28593434-A1CEAE23-7D19-4F7A-AB70-E31F6352B7CDQ30274598-31D448D2-7492-41D1-BDEB-762F7CBE50F8Q30983674-77EB33EF-04EB-4EC2-B4A7-278A62833BF5Q31009504-98CB02BE-615D-41E7-A173-9471BFFB3618Q33584478-E3EA64E8-12AE-4DE7-AD16-05896BC98423Q34438544-51FE8977-4D20-4F20-A055-3CFF69EB6FC2Q34448040-04D9E8A0-D72F-4DA9-8605-4D39DD287851Q34493173-A72E1D09-F7A2-4346-AE76-FC1D00BB784AQ36476263-8BF5A85A-5EE2-466F-BF50-3794131B8366Q36686140-5D2080E8-3CFE-4E74-AC3A-362CFDCDE541Q36695732-E5364351-EBA8-4F0A-92EC-A85BEFF98C25Q37352243-93D02A4D-2CC5-4AEE-9EAF-D3F77C505504Q37398057-88128A36-CABC-4156-A3EA-82AF4F896B2CQ38291144-C70D2D1F-958E-469E-BDCB-8E1F369C1C38Q38378683-33696C0B-4FB1-46E8-8F74-D273E1B34526Q38586076-254CE54C-3D8B-407B-9B83-B957D2D99214Q38655437-2E96C4F3-A7C3-4A90-A7A3-437395608903Q38689523-69E01D92-C7CD-446E-81E8-C6E666972EBAQ38981138-6A88881B-3405-402A-9969-0D191C54D597Q39623619-E6D7893A-E751-4516-9372-BCEC3BA4052FQ40648775-649B2295-321B-4760-A499-1EF8C953C252Q41062944-EA6A2671-670D-4370-99D5-C969368B0EC0Q41063018-17871EC6-DF60-4814-BF57-2AEF47AB848BQ41546800-53352B77-C25B-49CD-A25B-FCE156C6581AQ41740375-8EDC48CE-7FFB-420D-AA77-879254BCC2E0Q45074664-A18981DC-0097-40FA-82A2-168EB76A7C6FQ45345660-EABCAE3C-4CD8-467C-AEFF-C3A772200547Q46329723-62B94F05-7288-44ED-BC53-7D3DDBE8CB90Q47632310-768BD90B-BCA9-43EF-8154-C9A45A95BEEFQ49964423-F2A174AB-5F75-420A-8EBD-FE12F79F650BQ50117288-E426D99D-1FD9-4E63-829B-6BC5FA6F63A3Q55058895-752CA363-47B5-4686-8F60-8BDB4EB4F3A2Q55443680-B454365D-9108-41DC-822E-C1C1B9203A46
P2860
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
description
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2014
@ast
scientific journal article
@en
wetenschappelijk artikel (gepubliceerd op 2014/10/01)
@nl
наукова стаття, опублікована в жовтні 2014
@uk
مقالة علمية (نشرت في أكتوبر 2014)
@ar
name
Mutations in NGLY1 cause an in ...... associated degradation pathway
@ast
Mutations in NGLY1 cause an in ...... associated degradation pathway
@en
type
label
Mutations in NGLY1 cause an in ...... associated degradation pathway
@ast
Mutations in NGLY1 cause an in ...... associated degradation pathway
@en
prefLabel
Mutations in NGLY1 cause an in ...... associated degradation pathway
@ast
Mutations in NGLY1 cause an in ...... associated degradation pathway
@en
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutations in NGLY1 cause an in ...... associated degradation pathway
@en
P2093
Angelica Oviedo
Anna C. Need
Audrey Bibb
Brett H. Graham
Christian P. Schaaf
David B. Goldstein
FORGE Canada Consortium
Gregory M. Enns
Hudson H. Freeze
Jonathan A. Bernstein
P2860
P2888
P304
P3181
P356
10.1038/GIM.2014.22
P407
P577
2014-10-01T00:00:00Z
P5875
P6179
1026369342