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Published Research

Listed below are published academic papers available on CUL3, as they relate to either CUL3-related neurodevelopmental disorder or Pseudohypoaldosteronism Type2.

If you are aware of other research articles not included here, please contact us.

Articles related to CUL3-related neurodevelopmental disorder

> Neuronal knockdown of Cullin3 as a Drosophila model of autism spectrum disorder (2024)

> Are CUL3 variants an underreported cause of congenital heart disease? (2023)

> Current trends of high-risk gene Cul3 in neurodevelopmental disorders (2023)

> Effects of heterozygous deletion of autism-related gene Cullin-3 in mice (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 (2023)

> A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report (2023)

> A novel splice site CUL3 variant in a patient with neurodevelopmental delay (2023)

> Cholinergic neurons in the basal forebrain are involved in behavioral abnormalities associated with Cul3 deficiency: Role of prefrontal cortex projections in cognitive deficits (2023)

> Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling (2021)

> Behavioral, circuitry, and molecular aberrations by region-specific deficiency of the high-risk autism gene Cul3 (2021)

> A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder (2021)

> Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain
development (2021)

> A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders (2020)

> CUL3 Deficiency Causes Social Deficits and Anxiety-like Behaviors by Impairing Excitation-Inhibition Balance through the Promotion of Cap-Dependent Translation (2020)

> De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms (2020)

> Loss-of-function Mutations of CUL3, a High Confidence Gene for Psychiatric Disorders, Lead to Aberrant Neurodevelopment In Human Induced Pluripotent Stem Cells (2020)

Articles specific to Pseudohypoaldosteronism Type 2E

> Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension (2023)

> Aldosterone defects in infants and young children with hyperkalemia: A single center retrospective study (2023)

> Errate: Salt-Losing Syndrome in a Girl with Type I and II Pseudohypoaldosteronism (2023)

> CUL3 (Cullin 3) and Blood Pressure Regulation: Insights From Familial Hyperkalemic Hypertension (2023)

> A case of novel mutation of Cullin 3 gene in pseudohypoaldosteronism type II (2022)

> Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report (2021)

> Combined Kelch-like 3 and Cullin 3 Degradation is a Central Mechanism in Familial Hyperkalemic Hypertension in Mice (2022)

> Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling (2022)

> Cullin 3 mutant causing familial hyperkalemic hypertension lacks normal activity in the kidney (2022)

> Pseudohypoaldosteronism type 2: CUL3 mutation confirmed 15 years following initial diagnosis (2022)

> The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension (2021)

> Familial cases of pseudohypoaldosteronism type II harboring a novel mutation in the Cullin 3 gene (2020)

> Familial Hyperkalemic Hypertension Genotype With a Negative Phenotype: A CUL3 Mosaicism (2020)

> A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II (2018)

> Mechanisms and controversies in mutant Cul3-mediated familial hyperkalemic hypertension (2018)

> Mutant Cullin 3 causes familial hyperkalemic hypertension via dominant effects (2017)

> Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia (2015)

> A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3 (2013)

> CUL3 gene analysis enables early intervention for pediatric pseudohypoaldosteronism type II in infancy (2013)