Results 111 to 120 of about 422,094 (137)

An Assay System for Plate-based Detection of Endogenous Peptide:N-glycanase/NGLY1 Activity Using A Fluorescence-based Probe. [PDF]

Bio Protoc
Hirayama H, Suzuki T.
europepmc   +1 more source

Decision letter: A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

, 2020
openaire   +1 more source

Structural characterization of zebrafish Ngly2, an ovary-enriched acid PNGase required for egg-free glycan production. [PDF]

J Biol Chem
Honda A, Kamada K, Seino J, Hirayama H, Fujihira H, Ueki M, Shiraki T, Burton-Smith RN, Murata K, Ishii N, Matsuo I, Suzuki T.   +11 more
europepmc   +1 more source

Anything you can do, glycans do better: deglycosylation and noncanonical ubiquitination vie to rule the proteasome. [PDF]

Trends Biochem Sci
Lehrbach N.
europepmc   +1 more source

NFE2L1 as a central regulator of proteostasis in neurodegenerative diseases: interplay with autophagy, ferroptosis, and the proteasome. [PDF]

Front Mol Neurosci
Khodadadi H, Łuczyńska K, Winiarczyk D, Leszczyński P, Taniguchi H.   +4 more
europepmc   +1 more source

Mutations in nucleotide metabolism genes bypass proteasome defects in png-1/NGLY1-deficient Caenorhabditis elegans. [PDF]

PLoS Biol
Yanagi KS, Jochim B, Kunjo SO, Breen P, Ruvkun G, Lehrbach N.   +5 more
europepmc   +1 more source

Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature. [PDF]

Mol Genet Metab Rep
De Preter A, Rochtus A, Witters P, Rymen D.   +3 more
europepmc   +1 more source

NGLY1 deficiency: Novel variants and literature review

European Journal of Medical Genetics, 2021
NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage disorders. The typical phenotype is characterized by intellectual disability, liver malfunctioning, muscular hypotonia, involuntary
Ariana Kariminejad, Marjan Shakiba, Mehrvash Shams, Parva Namiranian, Maryam Eghbali, Said Talebi, Mina Makvand, Jaak Jaeken, Hossein Najmabadi, Raoul C. Hennekam   +9 more
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Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient

European Journal of Medical Genetics, 2022
NGLY1 deficiency is a rare congenital disorder of deglycosylation with a unique constellation of symptoms that include hypo- or alacrima, movement disorder, epilepsy, and severe intellectual disability (OMIM #615273). Here we report a patient with NGLY1 deficiency whose clinical presentation lacks many of the features associated with the disease and ...
Daniel Nolan
exaly   +3 more sources

Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort

Molecular Genetics and Metabolism
Background NGLY1 deficiency is an ultra-rare multisystem disorder characterized by developmental delay, hyperkinetic movement disorder, hypo-/alacrimia, peripheral neuropathy, and elevated transaminases. Methods We conducted a multicenter retrospective study including 15 patients from 11 families to evaluate the clinical, biochemical, and molecular ...
Öztürk-Hişmi, Burcu, Dursun, Ali, TÜRKDOĞAN, DİLŞAD, Taş, İbrahim, Önal, Hasan, Koşukcu, Can, TEKE KISA, PELİN, Kılıç, Mustafa, Kardaş, Fatih, Güneş, Hatice, GÜLBAHÇE, ALİYE, Er, Esra, Çakar, Nafiye Emel, Akbeyaz, İsmail Hakkı, Akar, Halil Tuna, Genç, Emine, Aydoğan, Ayça, Demir, Şenol, KILAVUZ, SEBİLE, Yılmaz-Gümüş, Emel   +19 more
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