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NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

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dc.contributor.authorCaglayan, Ahmet Okay
dc.contributor.authorComu, Sinan
dc.contributor.authorBaranoski, Jacob F.
dc.contributor.authorParman, Yesim
dc.contributor.authorKaymakcalan, Hande
dc.contributor.authorAkgumus, Gozde Tugce
dc.contributor.authorCaglar, CANER
dc.contributor.authorDolen, Duygu
dc.contributor.authorErson-Omay, Emine Zeynep
dc.contributor.authorHarmanci, Akdes Serin
dc.contributor.authorMishra-Gorur, Ketu
dc.contributor.authorFreeze, Hudson H.
dc.contributor.authorYasuno, Katsuhito
dc.contributor.authorBilguvar, Kaya
dc.contributor.authorGunel, Murat
dc.contributor.institutionauthorÇAĞLAR, CANER
dc.date.accessioned2021-08-03T20:59:23Z
dc.date.available2021-08-03T20:59:23Z
dc.date.issued2015-01-01T00:00:00Z
dc.description.abstractN-glycanase 1 (NGLY1) is a conserved enzyme that is responsible for the deglycosylation of misfolded N-glycosylated proteins in the cytoplasm prior to their proteasome-mediated degradation. Disruption of this degradation process has been associated with various neurologic diseases including amyotrophic lateral sclerosis and Parkinson-s disease. Here, we describe two siblings with neuromotor impairment, apparent intellectual disability, corneal opacities, and neuropathy who were found to possess a novel homozygous frame-shift mutation due to a 4 base pair deletion in NGLY1 (c.1533_1536delTCAA. p.Asn511LysfsX51). We hypothesize that this mutation likely limits the capability of neuronal cells to respond to stress due to accumulation of misfolded proteins, thereby impairing their survival and resulting in progressive loss of neurological function. (C) 2014 Elsevier Masson SAS. All rights reserved.
dc.identifier.citationCaglayan A. O. , Comu S., Baranoski J. F. , Parman Y., Kaymakcalan H., Akgumus G. T. , Caglar C., Dolen D., Erson-Omay E. Z. , Harmanci A. S. , et al., -NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy-, EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.58, sa.1, ss.39-43, 2015
dc.identifier.doi10.1016/j.ejmg.2014.08.008
dc.identifier.scopus84920163124
dc.identifier.urihttp://hdl.handle.net/20.500.12645/29115
dc.identifier.wosWOS:000347358600008
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleNGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
dc.typeArticle
dspace.entity.typePublication
local.avesis.ida724b812-5303-402d-bd03-320a660ac6e8
local.publication.isinternational1
relation.isAuthorOfPublication6e33515f-c9c7-4020-bcae-a2048eccbe74
relation.isAuthorOfPublication.latestForDiscovery6e33515f-c9c7-4020-bcae-a2048eccbe74
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