Results 121 to 130 of about 2,523,567 (168)

A Refined Method for Micro-Scale Blood Cystine Measurement in Preclinical Cystinosis Models. [PDF]

Int J Mol Sci
De Leo E, Cairoli S, Rega LR, Colucci M, Taranta A, Goffredo BM, Emma F, Bellomo F.   +7 more
europepmc   +1 more source

Lysosomal reduced thiols are essential for mouse embryonic development. [PDF]

Proc Natl Acad Sci U S A
Adelmann CH, Venkatachalam A, Huang L, Liu M, Germana S, Harry SA, Rosen PC, Herron J, Tien PC, Bar-Peled L, Sabatini DM, Fisher DE.   +11 more
europepmc   +1 more source

Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model. [PDF]

Front Cell Dev Biol
Rossi MN, Ciolfi A, Matteo V, Pedace L, Nardini C, Loricchio E, Caiello I, Bellomo F, Taranta A, De Leo E, Tartaglia M, Emma F, De Benedetti F, Miele E, Prencipe G.   +14 more
europepmc   +1 more source

A SINE-like insertion in intron 13 of the ATP7A gene is associated with a mild form of Menkes-like disease in a Cavalier King Charles Spaniel. [PDF]

J Vet Intern Med
Fulton EA, Schwarz C, Jagannathan V, Leeb T, Gutierrez-Quintana R.   +4 more
europepmc   +1 more source

Mobilome of Environmental Isolates of <i>Clostridioides difficile</i>. [PDF]

Antibiotics (Basel)
Blau K, Gallert C.
europepmc   +1 more source

Emerging therapeutic strategies for cystinosis. [PDF]

Front Pediatr
Goodyer P, Torban E.
europepmc   +1 more source

Description and evolution of a <i>nimB</i> gene-coding, composite mobilizable transposon, MTn<i>Bf8</i>, of <i>Bacteroides fragilis</i>. [PDF]

Front Microbiol
Sóki J.
europepmc   +1 more source

Effects of hypoxia and hyperoxia on exercise-induced metabolomic and transcriptomic profiles in equine skeletal muscle. [PDF]

J Exp Biol
Takahashi K, Mukai K, Takahashi Y, Ebisuda Y, Sugiyama F, Hatta H, Kitaoka Y.   +6 more
europepmc   +1 more source

SGLT2 Inhibitors Rescue Lysosomal mTORC1 Hyperactivity and Proximal Tubulopathy in Preclinical Models of Cystinosis

Keller SA, Krohn P, Chen Z, Luciani A, Devuyst O.   +4 more
europepmc   +1 more source

CYLD-mediated lysine63 deubiquitination regulates synaptic transmission and autophagy to mitigate age-related sequelae. [PDF]

Nat Commun
Sotiriou A, Konstantinidis G, Tavernarakis N.   +2 more
europepmc   +1 more source