Associated Papers
GABA transporter 1 is a promising drug target for CUL4B mutation-associated epilepsy.
Jiang W et al.
Acta Pharmacologica Sinica, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
CUL4B mutations impair human cortical neurogenesis through PP2A-dependent inhibition of AKT and ERK.
Ma Y et al.
Cell Death & Disease, 2024
Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene.
Guan J et al.
Stem Cell Research, 2019
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