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   Articles with "cul3" as a keyword



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

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recommendations! Published in 2018 at "FEBS Open Bio"

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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recommendations! Published in 2019 at "Molecular Psychiatry"

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
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Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling

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recommendations! 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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recommendations! Published in 2022 at "Medicine"

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.

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recommendations! 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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recommendations! Published in 2018 at "Hypertension"

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

Abstract 64: Smooth Muscle Cullin-3 Regulates the Renal Baroreceptor Mechanism: a Link Between CUL3 and Integrin β1

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recommendations! Published in 2024 at "Hypertension"

DOI: 10.1161/hyp.81.suppl_1.64

Abstract: Cullin-3 (CUL3) is a critical component of the CUL3-Ring-Ligase (CRL) ubiquitin ligase complex. CUL3 mutants in smooth muscle cells (SMCs) cause vascular dysfunction, arterial stiffness, and severe hypertension (HTN). We hypothesized that conditional deletion of… read more here.

Keywords: renal baroreceptor; cul3ko; cul3; mechanism ... See more keywords

Abstract P197: Identification and Characterization of Rho-related BTB Domain Containing 1 (RhoBTB1)-Cullin 3 (CUL3) Proteins in Placenta

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recommendations! Published in 2024 at "Hypertension"

DOI: 10.1161/hyp.81.suppl_1.p197

Abstract: Preeclampsia is life threatening condition affecting about 10% of all pregnancies. A potential mechanism is via malfunctioning syncytiotrophoblasts in the placenta. RhoBTB1 is an adapter protein for the CUL3 E3 ubiquitin ligase which delivers protein… read more here.

Keywords: cul3; protein; identification; expression ... See more keywords

Mutant Cullin 3 causes familial hyperkalemic hypertension via dominant effects.

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recommendations! Published in 2017 at "JCI insight"

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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recommendations! Published in 2017 at "BMC Cancer"

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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recommendations! Published in 2017 at "PLoS Genetics"

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