Results 21 to 30 of about 909 (55)

RETINAL MANIFESTATIONS OF WALKER-WARBURG SYNDROME IN TWO SIBLINGS WITH RXYLT1 MUTATIONS. [PDF]

Retin Cases Brief Rep
Jung EE, Nagiel A.
europepmc   +1 more source

De novo NAD⁺ synthesis is ineffective for NAD⁺ supply in axenically cultured Caenorhabditis elegans. [PDF]

Commun Biol
Zhu S, Zhang R, Yao L, Lin Z, Li Y, Li S, Wu L.   +6 more
europepmc   +1 more source

Production of Modified Nucleosides in a Continuous Enzyme Membrane Reactor. [PDF]

Int J Mol Sci, 2023
Thiele I, Yehia H, Krausch N, Birkholz M, Cruz Bournazou MN, Sitanggang AB, Kraume M, Neubauer P, Kurreck A.   +8 more
europepmc   +1 more source

Kynurenine pathway dysregulation via loss of QPRT drives declines in activity and altered metabolism in mice. [PDF]

Geroscience
Westbrook R, Menon V, Cagmat J, Garrett T, Schwarcz R, Walston J, Abadir PM, Chung T.   +7 more
europepmc   +1 more source

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies. [PDF]

Ann Clin Transl Neurol, 2023
Nallamilli BRR, Pan Y, Sniderman King L, Jagannathan L, Ramachander V, Lucas A, Markind J, Colzani R, Hegde M.   +8 more
europepmc   +1 more source

GT61 β-1,2-xylosyltransferases define a conserved xylan modification in gymnosperm and Arabidopsis primary cell walls. [PDF]

Plant J
Temple H, Yoshimi Y, Davis K, Tryfona T, Liszka A, Yates H, London JA, Echevarría-Poza A, Wurman-Rodrich J, Yu L, Thorlby G, Spodsberg N, Hanning KR, Fleischmann C, Yu X, Stott K, Krogh KBRM, Sorieul M, Anders N, Dupree P.   +19 more
europepmc   +1 more source

Isolation and Characterization of Engineered Nucleoside Deoxyribosyltransferase with Enhanced Activity Toward 2'-Fluoro-2'-Deoxynucleoside. [PDF]

J Microbiol Biotechnol, 2022
Yoo YJ, Choi KH, Kim BK, Choi SS, Kim ES.   +4 more
europepmc   +1 more source

Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype. [PDF]

Int J Mol Sci
Qualtieri A, De Benedittis S, Cerantonio A, Citrigno L, Di Palma G, Gallo O, Cavalcanti F, Spadafora P.   +7 more
europepmc   +1 more source

NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer. [PDF]

Sci Rep, 2022
Jung K, Lee S, Na HY, Kim JW, Lee JC, Hwang JH, Kim JW, Kim J.   +7 more
europepmc   +1 more source

Queuosine is incorporated into precursor tRNA before splicing. [PDF]

Nat Commun
Guo W, Kaczmarczyk I, Kopietz K, Flegler F, Russo S, Cigirgan E, Chramiec-Głąbik A, Koziej Ł, Cirzi C, Peschek J, Reuter K, Helm M, Glatt S, Tuorto F.   +13 more
europepmc   +1 more source