Results 71 to 80 of about 1,271 (136)

A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report. [PDF]

Ital J Pediatr, 2022
De Pasquale L, Meo P, Fulia F, Anania A, Meli V, Mondello A, Raimondo MT, Tulino V, Coletta MS, Cacace C.   +9 more
europepmc   +1 more source

Novel drug therapy for mitochondrial optic neuropathy [PDF]

Mitochondrial optic neuropathies (MON) represent an important cause of chronic visual impairment, affecting at least 1 in 10,000 individuals in the United Kingdom. Despite the efforts of recent years, the treatment options remain limited, with only a few
Varricchio, Carmine
core  

Improved reference quality genome sequence of the plastic-degrading greater wax moth, Galleria mellonella. [PDF]

G3 (Bethesda)
Young R, Ahmed KA, Court L, Castro-Vargas C, Marcora A, Boctor J, Paull C, Wijffels G, Rane R, Edwards O, Walsh T, Pandey G.   +11 more
europepmc   +1 more source

Pyrazolopyridine pyrimidone hybrids as potential DprE1 inhibitors, design, synthesis and biological evaluation as antitubercular agents. [PDF]

Sci Rep
Shah M, Patel I, Khona P, Patel H, Yadav MR, Nagani A.   +5 more
europepmc   +1 more source

The difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysis. [PDF]

Orphanet J Rare Dis
Zhang H, Ma J, Su M, Zhao J, Duan W, Wang J, Liu D, Guo J, Chang X, Zhang W, Zhao R.   +10 more
europepmc   +1 more source

Rational design of 1,2-dichalcogenides unlocks selective probes for the thioredoxin system [PDF]

Vicinal dithiol oxidoreductases maintain redox homeodynamics by facilitating electron transfer, modulating protein structure and activity, and driving signaling processes.
Zeisel, Lukas
core  

The hypusine pathway in Ixodes ricinus: molecular cloning and validation of deoxyhypusine synthase as a novel target for drug discovery to treat and prevent vector borne diseases. [PDF]

Front Cell Infect Microbiol
Kaiser A, Agostinelli E, Tsikas D.
europepmc   +1 more source

Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency. [PDF]

Eur J Hum Genet, 2022
Al Shamsi B, Al Murshedi F, Al Habsi A, Al-Thihli K.   +3 more
europepmc   +1 more source

Effect of Temperature on Polyamine Oxidase Genes in <i>Skeletonema dohrnii</i>. [PDF]

Int J Mol Sci
Teng W, Sun J.
europepmc   +1 more source

Dual-responsive renal injury cells targeting nanoparticles for vitamin E delivery to treat ischemia reperfusion-induced acute kidney injury. [PDF]

J Nanobiotechnology
Zhang J, Ren X, Nie Z, You Y, Zhu Y, Chen H, Yu H, Mo GP, Su L, Peng Z, Tang MC.   +10 more
europepmc   +1 more source