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更新于：2025-01-23

CAVIN4

更新于：2025-01-23

基本信息

别名

caveolae associated protein 4、Caveolae-associated protein 4、cavin-4

+ [4]

简介

Modulates the morphology of formed caveolae in cardiomyocytes, but is not required for caveolar formation. Facilitates the recruitment of MAPK1/3 to caveolae within cardiomyocytes and regulates alpha-1 adrenergic receptor-induced hypertrophic responses in cardiomyocytes through MAPK1/3 activation. Contributes to proper membrane localization and stabilization of caveolin-3 (CAV3) in cardiomyocytes (By similarity). Induces RHOA activation and activates NPPA transcription and myofibrillar organization through the Rho/ROCK signaling pathway (PubMed:18332105).

关联

项与 CAVIN4 相关的药物

WO2023224914

专利挖掘

靶点

CAVIN4

作用机制-

在研机构

Mayo Foundation for Medical Education & Research

原研机构

Mayo Foundation for Medical Education & Research

在研适应症

皮肤和结缔组织疾病

非在研适应症-

最高研发阶段药物发现

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 CAVIN4 相关的临床结果

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100 项与 CAVIN4 相关的转化医学

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0 项与 CAVIN4 相关的专利（医药）

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173

项与 CAVIN4 相关的文献（医药）

2025-01-01·Muscle & Nerve

The spectrum of rippling muscle disease

Review

作者: Milone, Margherita ; Rashed, Hebatallah R.

AbstractRippling muscle disease (RMD) is a rare disorder of muscle hyperexcitability. It is characterized by rippling wave‐like muscle contractions induced by mechanical stretch or voluntary contraction followed by sudden stretch, painful muscle stiffness, percussion‐induced rapid muscle contraction (PIRC), and percussion‐induced muscle mounding (PIMM). RMD can be hereditary (hRMD) or immune‐mediated (iRMD). hRMD is caused by pathogenic variants in caveolin‐3 (CAV3) or caveolae‐associated protein 1/ polymerase I and transcript release factor (CAVIN1/PTRF). CAV3 pathogenic variants are autosomal dominant or less frequently recessive while CAVIN1/PTRF pathogenic variants are autosomal recessive. CAV3‐RMD manifests with a wide spectrum of clinical phenotypes, ranging from asymptomatic creatine kinase elevation to severe muscle weakness. Overlapping phenotypes are common. Muscle caveolin‐3 immunoreactivity is often absent or diffusely reduced in CAV3‐RMD. CAVIN1/PTRF‐RMD is characterized by congenital generalized lipodystrophy (CGL, type 4) and often accompanied by several extra‐skeletal muscle manifestations. Muscle cavin‐1/PTRF immunoreactivity is absent or reduced while caveolin‐3 immunoreactivity is reduced, often in a patchy way, in CAVIN1/PTRF‐RMD. iRMD is often accompanied by other autoimmune disorders, including myasthenia gravis. Anti‐cavin‐4 antibodies are the serological marker while the mosaic expression of caveolin‐3 and cavin‐4 is the pathological feature of iRMD. Most patients with iRMD respond to immunotherapy. Rippling, PIRC, and PIMM are usually electrically silent. Different pathogenic mechanisms have been postulated to explain the disease mechanisms. In this article, we review the spectrum of hRMD and iRMD, including clinical phenotypes, electrophysiological characteristics, myopathological findings, and pathogenesis.

2024-11-01·Rheumatology

Identification of circulating autoantibodies to non-modified proteins associated with ACPA status in early rheumatoid arthritis

Article

作者: Sjöberg, Ronald ; Joshua, Vijay ; Lourido, Lucía ; Klareskog, Lars ; Nilsson, Peter ; Blanco, Francisco J ; Alfredsson, Lars ; Pin, Elisa ; Hansson, Monika ; Ruiz-Romero, Cristina

AbstractObjectiveThe objective of this study was to discover autoantibodies to non-modified proteins associated with the presence/absence of ACPAs in RA.MethodsThe autoantibody repertoire of 80 ACPA-negative and 80 ACPA-positive RA subjects from the Swedish population-based Epidemiological Investigation of RA (EIRA) cohort was screened using a suspension bead array built on protein fragments earlier described as autoimmunity targets. Four autoantibodies positive in the initial screening were validated in another set of EIRA samples containing 317 ACPA-positive, 302 ACPA-negative and 372 age- and sex-matched controls. The relationship between the four autoantibodies and lung abnormalities on high-resolution CT (HRCT) was examined in 93 early-RA patients from the LURA cohort. Association between the autoantibodies, smoking and MHC class II alleles was assessed by logistic regression analysis.ResultsAnti-ANOS1 and anti-MURC IgG levels were associated with ACPA-positive status [odds ratio (OR) = 3.02; 95% CI 1.87–4.89; and OR = 1.86; 95% CI 1.16–2.97, respectively] and increased in ACPA-positive patients compared with controls. Anti-ANOS1 IgG was associated with smoking habit (OR = 2.11; 95% CI 1.22–3.69) and anti-MURC IgG with the presence of the MHC class II ‘shared-epitope’ genes (OR = 1.95; 95% CI 1.11–3.46). Anti-TSPYL4 IgG was associated with being ACPA negative (OR = 0.41; 95% CI 0.19–0.89). Anti-TSPYL4 IgG and anti-MAP2K6 IgG levels were increased in the ACPA-negative patients compared with controls. Presence of anti-MAP2K6 IgG and anti-TSPYL4 IgG correlated negatively with HRCT-defined lung abnormalities.ConclusionThese four autoantibodies may be useful in diagnostics and in predicting clinical phenotypes of RA.

2024-08-01·Microbial Pathogenesis

Computational prediction of crucial genes involved in gonorrhea infection and neoplastic cell transformation: A multiomics approach

Article

作者: Ravindranath, B S ; Ananya, G ; Gomez Mejiba, S E ; Hema Kumar, C ; Ramirez, D C

Neisseria gonorrheae, the causative agent of genitourinary infections, has been associated with asymptomatic or recurrent infections and has the potential to form biofilms and induce inflammation and cell transformation. Herein, we aimed to use computational analysis to predict novel associations between chronic inflammation caused by gonorrhea infection and neoplastic transformation. Prioritization and gene enrichment strategies based on virulence and resistance genes utilizing essential genes from the DEG and PANTHER databases, respectively, were performed. Using the STRING database, protein‒protein interaction networks were constructed with 55 nodes of bacterial proteins and 72 nodes of proteins involved in the host immune response. MCODE and cytoHubba were used to identify 12 bacterial hub proteins (murA, murB, murC, murD, murE, purN, purL, thyA, uvrB, kdsB, lpxC, and ftsH) and 19 human hub proteins, of which TNF, STAT3 and AKT1 had high significance. The PPI networks are based on the connectivity degree (K), betweenness centrality (BC), and closeness centrality (CC) values. Hub genes are vital for cell survival and growth, and their significance as potential drug targets is discussed. This computational study provides a comprehensive understanding of inflammation and carcinogenesis pathways that are activated during gonorrhea infection.

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