A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II
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DOI: 10.1002/2211-5463.12389
Abstract: Pseudohypoaldosteronism type II (PHAII) is a rare renal tubular disease that is inherited in an autosomal dominant manner. Mutations in four genes (WNK1, WNK4, CUL3, and KLHL3) have been identified to be responsible for this… read more here.
Keywords: cul3; exon; pseudohypoaldosteronism type; mutation ... See more keywords
Behavioral, circuitry, and molecular aberrations by region-specific deficiency of the high-risk autism gene Cul3
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DOI: 10.1038/s41380-019-0498-x
Abstract: Cullin 3 (Cul3) gene, which encodes a core component of the E3 ubiquitin ligase complex that mediates proteasomal degradation, has been identified as a true high-risk factor for autism. Here, by combining behavioral, electrophysiological, and… read more here.
Keywords: autism; high risk; region specific; cul3 ... See more keywords
Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling
Sign Up to like & getrecommendations! Published in 2021 at "Molecular psychiatry"
DOI: 10.1038/s41380-021-01052-x
Abstract: E3-ubiquitin ligase Cullin3 ( Cul3 ) is a high confidence risk gene for autism spectrum disorder (ASD) and developmental delay (DD). To investigate how Cul3 mutations impact brain development, we generated a haploinsufficient Cul3 mouse… read more here.
Keywords: cul3 mutant; rhoa; autism; neurogenesis ... See more keywords
A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report
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DOI: 10.1097/md.0000000000033457
Abstract: Rationale: CUL3 (OMIM: 603136) encodes cullin-3, a core component of ubiquitin E3 ligase. Existing medical research suggests that CUL3 mutations are closely related to neurodevelopmental disorder with or without autism or seizures (neurodevelopmental disorder with… read more here.
Keywords: autism; autism spectrum; spectrum disorder; epilepsy ... See more keywords
Renal effects of cullin 3 mutations causing familial hyperkalemic hypertension.
Sign Up to like & getrecommendations! Published in 2023 at "Current opinion in nephrology and hypertension"
DOI: 10.1097/mnh.0000000000000891
Abstract: PURPOSE OF REVIEW Mutations in the E3 ubiquitin ligase scaffold cullin 3 (CUL3) cause the disease familial hyperkalemic hypertension (FHHt) by hyperactivating the NaCl cotransporter (NCC). The effects of these mutations are complex and still… read more here.
Keywords: hypertension; familial hyperkalemic; hyperkalemic hypertension; cul3 mutations ... See more keywords
Abstract P086: Endothelial Cullin3 Mutation Causes Vascular Dysfunction, Arterial Stiffening, And Hypertension
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DOI: 10.1161/hyp.76.suppl_1.p086
Abstract: Mutations in CULLIN3 gene (causing in-frame deletion of exon 9) cause hypertension in humans. The hypertension phenotype is unlikely to be driven by renal tubular mechanisms, as kidney-specific deletion of Cullin3 (Cul3) in mice results… read more here.
Keywords: dysfunction; causes vascular; hypertension; cul3 ... See more keywords
Mutant Cullin 3 causes familial hyperkalemic hypertension via dominant effects.
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DOI: 10.1172/jci.insight.96700
Abstract: Mutations in the ubiquitin ligase scaffold protein Cullin 3 (CUL3) cause the disease familial hyperkalemic hypertension (FHHt). In the kidney, mutant CUL3 (CUL3-Δ9) increases abundance of With-No-Lysine [K] Kinase 4 (WNK4), with excessive activation of… read more here.
Keywords: dominant effects; hyperkalemic hypertension; familial hyperkalemic; cul3 ... See more keywords
Gene-expression signature regulated by the KEAP1-NRF2-CUL3 axis is associated with a poor prognosis in head and neck squamous cell cancer
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DOI: 10.1186/s12885-017-3907-z
Abstract: BackgroundNRF2 is the key regulator of oxidative stress in normal cells and aberrant expression of the NRF2 pathway due to genetic alterations in the KEAP1 (Kelch-like ECH-associated protein 1)-NRF2 (nuclear factor erythroid 2 like 2)-CUL3… read more here.
Keywords: keap1 nrf2; hnscc; signature; cul3 ... See more keywords
Conserved properties of Drosophila Insomniac link sleep regulation and synaptic function
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DOI: 10.1371/journal.pgen.1006815
Abstract: Sleep is an ancient animal behavior that is regulated similarly in species ranging from flies to humans. Various genes that regulate sleep have been identified in invertebrates, but whether the functions of these genes are… read more here.
Keywords: drosophila insomniac; synaptic function; inc; cul3 ... See more keywords
PD173074 blocks G1/S transition via CUL3-mediated ubiquitin protease in HepG2 and Hep3B cells
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DOI: 10.1371/journal.pone.0234708
Abstract: Fibroblast growth factor receptors (FGFRs) are frequently altered in a variety of human cancer cells and are overexpressed in hepatocellular carcinoma (HCC). Several literatures have proven that they are efficacious for HCC therapy, however, the… read more here.
Keywords: hcc; hep3b; cul3; hep3b cells ... See more keywords
SPOP and CUL3 Modulate the Sonic Hedgehog Signal Response Through Controlled Degradation of GLI Family Transcription Factors
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2021.710295
Abstract: The speckle-type POZ protein (SPOP) functions as a guardian of genome integrity and controls transcriptional regulation by functioning as a substrate adaptor for CUL3/RING-type E3 ubiquitin ligase complexes. SPOP-containing CUL3 complexes target a myriad of… read more here.
Keywords: gli family; cul3; transcription factors; gli ... See more keywords