Results 151 to 160 of about 1,366 (180)

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

U-GLIDE Program Fall 2024 [PDF]

UNF Graduate School, UNF Office of Undergraduate Research   +1 more
core  

Report of one case with de novo mutation in TLK2 and literature review. [PDF]

BMC Pediatr
Li HY, Jiang CM, Liu RY, Zou CC.
europepmc   +1 more source

(ARISE) Achievements in Research, Inquiry and Scholarship Exhibition 2024 [PDF]

Office of Undergraduate Research
core  

2024 SOARS Conference Program [PDF]

UNF Office of Undergraduate Research
core  

Downregulation of Endo-Beta-N-Acetylglucosaminidase in <italic>Caenorhabditis elegans</italic> Improves Stress Adaptivity.

Cells Tissues Organs
Lu X, Tong Y, Wu M, Lyu S, Fan J, Zheng J, Zou L, Shen D, Rao L, Hou L, Chen C, Cheng X, Sun G, Shao Z, Chen L.   +14 more
europepmc   +1 more source

The role of the protease Ddi2 in brown adipose tissue thermogenesis and ferroptosis [PDF]

Ofoghi, Anahita
core  

Some of the next articles are maybe not open access.

Related searches:

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

N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1 [PDF]

Journal of Experimental Medicine, 2018
Mutations in the NGLY1 (N-glycanase 1) gene, encoding an evolutionarily conserved deglycosylation enzyme, are associated with a rare congenital disorder leading to global developmental delay and neurological abnormalities. The molecular mechanism of the NGLY1 disease and its function in tissue and immune homeostasis remain unknown.
Kun Yang, Ryan Huang, Tadashi Suzuki
exaly   +3 more sources