Results 111 to 120 of about 792 (148)

2024 SOARS Conference Program [PDF]

UNF Office of Undergraduate Research
core  

Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases. [PDF]

Mol Genet Metab
Altassan R, Aldhahri SK, Macdonald G, Shah R, Morava E.   +4 more
europepmc   +1 more source

Functional prediction of the potential NGLY1 mutations associated with rare disease CDG. [PDF]

Heliyon
Yuan S, Chen Y, Zou L, Lu X, Liu R, Zhang S, Zhang Y, Chen C, Cheng D, Chen L, Sun G.   +10 more
europepmc   +1 more source

Mass Spectrometry as a First-Line Diagnostic Aid for Congenital Disorders of Glycosylation. [PDF]

Mass Spectrom (Tokyo)
Wada Y.
europepmc   +1 more source

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

, 2020
openaire   +1 more source

KCTD1 regulation of Adenylyl cyclase type 5 adjusts striatal cAMP signaling. [PDF]

Proc Natl Acad Sci U S A
Liao Y, Muntean BS.
europepmc   +1 more source

Nrf3: an emerging player in cancer, inflammation, and cellular homeostasis. [PDF]

Mol Biol Rep
Kilicaslan D, Irmak-Yazicioglu MB, Copuroglu E.   +2 more
europepmc   +1 more source

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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
openaire   +4 more sources

Delineating the epilepsy phenotype of NGLY1 deficiency

Journal of Inherited Metabolic Disease, 2022
AbstractWe delineated the phenotypic spectrum of epilepsy in individuals with NGLY1 deficiency from an international cohort. We collected detailed clinical and electroencephalographic data from 29 individuals with bi‐allelic (likely) pathogenic variants in NGLY1 as part of an ongoing prospective natural history study.
Rebecca J. Levy, Christina H. Frater, William B. Gallentine, Jennifer M. Phillips, Maura R. Ruzhnikov   +4 more
openaire   +2 more sources

Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells

Biochemical and Biophysical Research Communications, 2022
N-glycanase 1(NGLY1) catalyzes the removal of N-linked glycans from newly synthesized or misfolded protein. NGLY1 deficiency is a recently diagnosed rare genetic disorder. The affected individuals present a broad spectrum of clinical features. Recent studies explored several possible molecular mechanisms of NGLY1 deficiency including defects in ...
Rebecca Hetz, Carlo Magaway, Jaylene Everett, Ling Li, Belinda B. Willard, Hudson H. Freeze, Ping He   +6 more
openaire   +2 more sources