Associated Papers
A novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype-phenotype correlation and literature review.
Zhang Q et al.
Bmc Neurology, 2026
RNF13 variants L311S and L312P associated with developmental epileptic encephalopathy alter dendritic organization in hippocampal neurons.
Cabana VC et al.
Ibro Neuroscience Reports, 2025
AP-1 contributes to endosomal targeting of the ubiquitin ligase RNF13 via a secondary and novel non-canonical binding motif.
Cabana VC et al.
Journal of Cell Science, 2024
E3 Ubiquitin Ligase RNF13 Suppresses TLR Lysosomal Degradation by Promoting LAMP-1 Proteasomal Degradation.
Liu W et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive.
Taylor A et al.
American Journal of Medical Genetics. Part A, 2023
From Drosophila to Human: Biological Function of E3 Ligase Godzilla and Its Role in Disease.
Cabana VC et al.
Cells, 2022
RNF13 Dileucine Motif Variants L311S and L312P Interfere with Endosomal Localization and AP-3 Complex Association.
Cabana VC et al.
Cells, 2021
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
Edvardson S et al.
American Journal of Human Genetics, 2019
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