Pile of papers and a magnifying glass on a gray background.jpg

Published Research Articles

The following is a list of scientific research papers that have been published in academic journals. We have categorized them into the following sections:

CUL3 Genetic Variants and Phenotypic Presentation

Clinical cases that highlight CUL3 variants and observable characteristics, traits, or manifestations.

van der Laan, L., Silva, A., Kleinendorst, L., ..., Sadikovic, B., van Haelst, M. M., & Henneman, P. (2025). CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature. Human Genetics and Genomics Advances.

Colak, Y., Yilmaz, M., & Yildiz, P. (2024). Discovery of a novel CUL3 variant: Unveiling epilepsy and newly associated dysmorphic traits in a Turkish patient. Molecular Syndromology.

Blackburn, P. R., Ebstein, F., Hsieh, T.-C., Motta, M., Radio, F. C., Herkert, J. C., Rinne, T., Thiffault, I., Rapp, M., Alders, M., Maas, S., Gerard, B., Smol, T., Vincent-Delorme, C., Cogné, B., Isidor, B., Vincent, M., Bachmann-Gagescu, R., Rauch, A., ... Wang, T. (2024). Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. Annals of Neurology.

de Masfrand, S., Cogné, B., Nizon, M., Deb, W., Goldenberg, A., Lecoquierre, F., Nicolas, G., Bournez, M., Vitobello, A., Tran Mau-Them, F., le Guyader, G., Bilan, F., Bauer, P., Zweier, C., Piard, J., Pasquier, L., Bézieau, S., Gerard, B., Faivre, L., Saugier-Veber, P., Piton, A., & Isidor, B. (2024). Penetrance, variable expressivity, and monogenic neurodevelopmental disorders. European Journal of Medical Genetics.

Delgado-Vega, A. M., Cederroth, H., Taylan, F., Ekholm, K., Ek, M., Thonberg, H., Jemt, A., Nilsson, D., Eisfeldt, J., Saether, K. B., Höijer, I., Akgun-Dogan, O., Asano, Y., Barakat, T. S., Batkovskyte, D., Baynam, G., Bodamer, O., Chetruengchai, W., Corcoran, P., ... Nordgren, A. (2024). Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nature Genetics.

Vincent, K. M., & Bourque, D. K. (2023). A novel splice site CUL3 variant in a patient with neurodevelopmental delay. American Journal of Medical Genetics Part A.

Qian, M., Lin, S., Tan, Y., Chen, Q., Wang, W., Li, J., & Mu, C. (2022). A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report. Medicine.

Iwafuchi, S., Kikuchi, A., Endo, W., Inui, T., Aihara, Y., Satou, K., Kaname, T., & Kure, S. (2021). A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder. Brain and Development.

Kato, K., Miya, F., Oka, Y., Mizuno, S., & Saitoh, S. (2021). A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders. Journal of Human Genetics.

Nakashima, M., Kato, M., Matsukura, M., Kira, R., Ngu, L.-H., Lichtenbelt, K. D., van Gassen, K. L. I., Mitsuhashi, S., Saitsu, H., & Matsumoto, N. (2020). De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. Journal of Human Genetics.

Genetic Variants

CUL3 in Neurodevelopment

Research that examines CUL3’s role in neurodevelopment, and its association with conditions like autism, epilepsy, and congenital heart abnormalities.

Ashitomi, H., Nakagawa, T., Nakagawa, M., & Hosoi, T. (2025). Cullin-RING ubiquitin ligases in neurodevelopment and neurodevelopmental disorders. Preprints.

Lamilla, J., Castro-Cuesta, T. A., Rueda-Gaitán, P., Rios Pinto, L. C., Rodríguez Gutiérrez, D. A., Sanchez Rubio, Y. N., Estrada-Serrato, C., Londoño, O., Rucinski, C., Arcos-Burgos, M., Isaza-Ruget, M., & López Rivera, J. J. (2025). A robust and comprehensive study of the molecular and genetic basis of neurodevelopmental delay in a sample of 3244 patients, evaluated by exome analysis in a Latin population. Diagnostics.

Li, Q., Lim, K. Y., Altawell, R., Verderose, F., Li, X., Dong, W., Martinez, J., Dickman, D., & Stavropoulos, N. (2025). The Cul3 ubiquitin ligase engages Insomniac as an adaptor to impact sleep and synaptic homeostasis. PLOS Genetics.

Tener, S. J., Lin, Z., Park, S. J., Oraedu, K., Ulgherait, M., Van Beek, E., Martínez-Muñiz, A., Pantalia, M., Gatto, J. A., Volpi, J., Stavropoulos, N., Ja, W. W., Canman, J. C., & Shirasu-Hiza, M. (2024). Neuronal knockdown of Cullin3 as a Drosophila model of autism spectrum disorder. Scientific Reports.

Xia, Q.-Q., Singh, A., Wang, J., Xuan, Z. X., Singer, J. D., & Powell, C. M. (2024). Autism risk gene Cul3 alters neuronal morphology via caspase-3 activity in mouse hippocampal neurons. Frontiers in Cellular Neuroscience.

Di Francesco, D., Swenerton, A., Li, W. L., Dunham, C., Hendson, G., & Boerkoel, C. F. (2023). Are CUL3 variants an underreported cause of congenital heart disease? American Journal of Medical Genetics Part A.

Lin, P., Yang, J., Wu, S., Ye, T., Zhuang, W., Wang, W., & Tan, T. (2023). Current trends of high-risk gene Cul3 in neurodevelopmental disorders. Frontiers in Psychiatry.

Xia, Q.-q., Walker, A. K., Song, C., Wang, J., Singh, A., Mobley, J. A., Xuan, Z. X., Singer, J. D., & Powell, C. M. (2023). Effects of heterozygous deletion of autism-related gene Cullin-3 in mice. PLoS ONE.

Gao, N., Liu, Z., Wang, H., Shen, C., Dong, Z., Cui, W., Xiong, W.-C., & Mei, L. (2023). Deficiency of Cullin 3, a protein encoded by a schizophrenia and autism risk gene, impairs behaviors by enhancing the excitability of ventral tegmental area (VTA) DA neurons. Journal of Neuroscience.

Rapanelli, M., Wang, W., Hurley, E., Feltri, M. L., Pittenger, C., Frick, L. R., & Yan, Z. (2023). Cholinergic neurons in the basal forebrain are involved in behavioral abnormalities associated with Cul3 deficiency: Role of prefrontal cortex projections in cognitive deficits. Translational Psychiatry.

Amar, M., Pramod, A. B., Yu, N.-K., Herrera, V. M., Qiu, L. R., Moran-Losada, P., Zhang, P., Trujillo, C. A., Ellegood, J., Urresti, J., Chau, K., Diedrich, J., Chen, J., Gutierrez, J., Sebat, J., Ramanathan, D., Lerch, J. P., Yates, J. R., Muotri, A. R., & Iakoucheva, L. M. (2021). Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling. Molecular Psychiatry.

Ebstein, F., Küry, S., Papendorf, J. J., & Krüger, E. (2021). Neurodevelopmental disorders (NDD) caused by genomic alterations of the ubiquitin-proteasome system (UPS): The possible contribution of immune dysregulation to disease pathogenesis. Frontiers in Molecular Neuroscience.

Rapanelli, M., Tan, T., Wang, W., Wang, X., Wang, Z.-J., Zhong, P., Frick, L., Qin, L., Ma, K., Qu, J., & Yan, Z. (2021). Behavioral, circuitry, and molecular aberrations by region-specific deficiency of the high-risk autism gene Cul3. Molecular Psychiatry.

Morandell, J., Schwarz, L. A., Basilico, B., Tasciyan, S., Dimchev, G., Nicolas, A., Sommer, C., Kreuzinger, C., Dotter, C. P., Knaus, L. S., Dobler, Z., Cacci, E., Schur, F. K. M., Danzl, J. G., & Novarino, G. (2021). Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development. Nature Communications.

Dong, Z., Chen, W., Chen, C., Wang, H., Cui, W., Tan, Z., Robinson, H., Gao, N., Luo, B., Zhang, L., Zhao, K., Xiong, W.-C., & Mei, L. (2019). CUL3 deficiency causes social deficits and anxiety-like behaviors by impairing excitation-inhibition balance through the promotion of cap-dependent translation. Neuron.

Fischer, S., Schlotthauer, I., Kizner, V., Macartney, T., Dorner-Ciossek, C., & Gillardon, F. (2020). Loss-of-function mutations of CUL3, a high-confidence gene for psychiatric disorders, lead to aberrant neurodevelopment in human induced pluripotent stem cells. Neuroscience.

Neurodevelopment

CUL3 in Hypertension and Pseudohypoaldosternoism (PHA)

Research related to Pseudohypoaldosteronism Type 2E, hypertension, and blood pressure regulation linked to CUL3.

PHA

Sharma, P., & Chatrathi, H. E. (2023). Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension. Cell Communication and Signaling.

Liu, X., Xie, Y., Tang, J., Zhong, J., Zeng, D., & Lan, D. (2023). Aldosterone defects in infants and young children with hyperkalemia: A single center retrospective study. Frontiers in Pediatrics.

Maeoka, Y., Cornelius, R. J., & McCormick, J. A. (2023). Cullin 3 and blood pressure regulation: Insights from familial hyperkalemic hypertension. Hypertension.

Wang, L., Nie, M., Guo, F., Tian, Z., Guo, X., & Zhang, S. (2022). A case of novel mutation of Cullin 3 gene in pseudohypoaldosteronism type II. Journal of Hypertension.

Park, J. H., Kim, J. H., Ahn, Y. H., Kang, H. G., Ha, I. S., & Cheong, H. I. (2021). Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: A case report. Journal of Pediatric Endocrinology and Metabolism.

Maeoka, Y., Ferdaus, M. Z., Cornelius, R. J., Sharma, A., Su, X.-T., Miller, L. N., Robertson, J. A., Gurley, S. B., Yang, C.-L., Ellison, D. H., & McCormick, J. A. (2022). Combined Kelch-like 3 and Cullin 3 degradation is a central mechanism in familial hyperkalemic hypertension in mice. Journal of the American Society of Nephrology.

Kouranti, I., Abdel Khalek, W., Mazurkiewicz, S., Loisel-Ferreira, I., Gautreau, A. M., Pintard, L., Jeunemaitre, X., & Clauser, E. (2022). Cullin 3 exon 9 deletion in familial hyperkalemic hypertension impairs Cullin3-Ring-E3 ligase (CRL3) dynamic regulation and cycling. International Journal of Molecular Sciences.

Maeoka, Y., Cornelius, R. J., Ferdaus, M. Z., & other authors. (2022). Cullin 3 mutant causing familial hyperkalemic hypertension lacks normal activity in the kidney. American Journal of Physiology-Renal Physiology.

Li, B., Soule, S., Wilkinson, T., & Florkowski, C. (2022). Pseudohypoaldosteronism type 2: CUL3 mutation confirmed 15 years following initial diagnosis. Internal Medicine Journal.

Hureaux, M., Marzukiewicz, S., Vargas-Poussou, R., & Jeunemaitre, X. (2021). The variety of genetic defects explains the phenotypic heterogeneity and the mode of transmission of familial hyperkalemic hypertension. Journal of Hypertension.

Nakano, K., Kubota, Y., Mori, T., Chiga, M., Mori, T., Sonoda, S., Ueda, D., Asakura, I., Ikegaya, T., Kagawa, J., Uchida, S., & Kubota, A. (2020). Familial cases of pseudohypoaldosteronism type II harboring a novel mutation in the Cullin 3 gene. Nephrology.

Ostrosky-Frid, M., Chávez-Canales, M., Romo, M., Grunfeld, B., Simsolo, R., Segura-Kato, Y., Tusié-Luna, T., & Gamba, G. (2020). Familial hyperkalemic hypertension genotype with a negative phenotype: A CUL3 mosaicism. American Journal of Hypertension.

Shao, L., Cui, L., Lu, J., Lang, Y., Bottillo, I., & Zhao, X. (2018). A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II. FEBS Open Bio.

Ferdaus, M. Z., & McCormick, J. A. (2018). Mechanisms and controversies in mutant Cul3-mediated familial hyperkalemic hypertension. American Journal of Physiology-Renal Physiology.

Ferdaus, M. Z., Miller, L. N., Agbor, L. N., Saritas, T., Singer, J. D., Sigmund, C. D., & McCormick, J. A. (2017). Mutant Cullin 3 causes familial hyperkalemic hypertension via dominant effects. JCI Insight.

Schumacher, F.-R., Siew, K., Zhang, J., Johnson, C., Wood, N., Cleary, S. E., Al Maskari, R. S., Ferryman, J. T., Hardege, I., Yasmin, Figg, N. L., Enchev, R., Knebel, A., O'Shaughnessy, K. M., & Kurz, T. (2015). Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalemia. EMBO Molecular Medicine.

Tsuji, S., Yamashita, M., Unishi, G., Takewa, R., Kimata, T., Isobe, K., Chiga, M., Uchida, S., & Kaneko, K. (2013). A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. BMC Nephrology.

Osawa, M., Ogura, Y., Isobe, K., Uchida, S., Nonoyama, S., & Kawaguchi, H. (2013). CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy. Pediatric Nephrology.