Shi(Z),Zhu(J),Cao(B),Tian(Y),Yu(J),Hou(C),... BMC Neurol 2026-02-23

...MOCS2. Patients with mild phenotypes may experience infection-related neurological deterioration followed by partial spo...

Deng(S),Zhang(M),Zhang(T),Mao(R) Medicine (Baltimore) 2025-07-18

...MOCS2, TNFAIP8, and PVALB - with potential protective effects against AD. A novel protein-based scoring system, integrat...

Cho(SK),Schwarz(G),Tasic(V),Křížková(M),Kr... Eur J Pediatr 2025-07-25

...MOCS2A subunit) and p.Leu19Phe (large MOCS2B subunit) demonstrate a strong reduction in molydopterin synthase complex fo...

Siniakova(N A),Kulikov(A V) Mol Biol (Mosk) 2015-06-03

...Mocs2, which codes heat shock protein and, molybdenum cofactor synthesis, respectively, in substantia nigra is reduced i...

Edwards(Matthew),Roeper(Juliane),Allgood(C... Meta Gene 2015-02-24

...MOCS2 gene mutations were identified: c.501 + 2delT, which disrupts a conserved splice site sequence, and c.419C > T (pS...

Kan(Chi-Chuan),Aganon(Mannie C),Futalan(Cy... J Environ Sci (China) 2014-02-07

...MOCS2), iron oxide-coated sand2 (IOCS2), and manganese and iron oxide-coated sand (MIOCS) was investigated. The effects ...

Struys(Eduard Alexander),Nota(Benjamin),Ba... Pediatrics 2013-02-04

...MOCS2 gene. Based upon the clinically evident pyridoxine-responsive seizures in these 2 siblings, we recommend consideri...

Bayram(Erhan),Topcu(Yasemin),Karakaya(Paki... Eur J Paediatr Neurol 2013-07-22

...MOCS2 genes. Although the therapeutic treatment strategies have not been improved, genetic analysis is essential to eluc...

Reiss(Jochen),Hahnewald(Rita) Hum Mutat 2011-12-19

...MOCS2 (type B deficiency), with one reported in GPHN. For type A deficiency an effective substitution therapy has been d...

Job(Bastien),Bernheim(Alain),Beau-Faller(M... PLoS One 2011-07-05

...MOCS2, NSUN3, KHDRBS2, SNTG1 and ST18). One larger MCR of gain contained NSD1. One focal amplification and nine gains co...