Channels (Austin, Tex.)最新文献

{"title":"Pleiotropic Ankyrins: Scaffolds for Ion Channels and Transporters.","authors":"Sharon R Stevens,&nbsp;Matthew N Rasband","doi":"10.1080/19336950.2022.2120467","DOIUrl":"https://doi.org/10.1080/19336950.2022.2120467","url":null,"abstract":"<p><p>The ankyrin proteins (Ankyrin-R, Ankyrin-B, and Ankyrin-G) are a family of scaffolding, or membrane adaptor proteins necessary for the regulation and targeting of several types of ion channels and membrane transporters throughout the body. These include voltage-gated sodium, potassium, and calcium channels in the nervous system, heart, lungs, and muscle. At these sites, ankyrins recruit ion channels, and other membrane proteins, to specific subcellular domains, which are then stabilized through ankyrin's interaction with the submembranous spectrin-based cytoskeleton. Several recent studies have expanded our understanding of both ankyrin expression and their ion channel binding partners. This review provides an updated overview of ankyrin proteins and their known channel and transporter interactions. We further discuss several potential avenues of future research that would expand our understanding of these important organizational proteins.</p>","PeriodicalId":72555,"journal":{"name":"Channels (Austin, Tex.)","volume":"16 1","pages":"216-229"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9467607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9186770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.","authors":"Yifan Li,&nbsp;Mao Li,&nbsp;Zhenfu Wang,&nbsp;Fei Yang,&nbsp;Hongfen Wang,&nbsp;Xiujuan Bai,&nbsp;Bo Sun,&nbsp;Siyu Chen,&nbsp;Xusheng Huang","doi":"10.1080/19336950.2022.2041292","DOIUrl":"https://doi.org/10.1080/19336950.2022.2041292","url":null,"abstract":"<p><p>Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (<i>CLCN1</i>), encoding the voltage-gated chloride channel ClC-1 in skeletal muscle. Our study reported the clinical and molecular characteristics of six patients with MC and systematically review the literature on Chinese people. We retrospectively analyzed demographics, clinical features, family history, creatine kinase (CK), electromyography (EMG), treatment, and genotype data of our patients and reviewed the clinical data and <i>CLCN1</i> mutations in literature. The median ages at examination and onset were 26.5 years (range 11-50 years) and 6.5 years (range 1.5-11 years), respectively, in our patients, and 21 years (range 3.5-65 years, n = 45) and 9 years (range 0.5-26 years, n = 50), respectively, in literature. Similar to previous reports, myotonia involved limb, lids, masticatory, and trunk muscles to varying degrees. Warm-up phenomenon (5/6), percussion myotonia (3/5), and grip myotonia (6/6) were common. Menstruation triggered myotonia in females, not observed in Chinese patients before. The proportion of abnormal CK levels (4/5) was higher than data from literature. Electromyography performed in six patients revealed myotonic changes (100%). Five novel <i>CLCN1</i> mutations, including a splicing mutation (c.853 + 4A>G), a deletion mutation (c.2010_2014del), and three missense mutations (c.2527C>T, c.1727C>T, c.2017 G > C), were identified. The c.892 G > A (p.A298T) mutation was the most frequent mutation in the Chinese population. Our study expanded the clinical and genetic spectrum of patients with MC in the China. The MC phenotype in Chinese people is not different from that found in the West, while the genotype is different.</p>","PeriodicalId":72555,"journal":{"name":"Channels (Austin, Tex.)","volume":" ","pages":"35-46"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855856/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39789398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AMP-activated protein kinase(AMPK) channel: A Global Bibliometric analysis From 2012 to 2021.","authors":"Tianyi Lyu,&nbsp;Chuanxi Tian,&nbsp;Tianyang Tan,&nbsp;Jiaxuan Lyu,&nbsp;Kang Yan,&nbsp;Xirui Zhao,&nbsp;Ruoshui Wang,&nbsp;Chaoyang Zhang,&nbsp;Meng Liu,&nbsp;Yulong Wei","doi":"10.1080/19336950.2022.2049543","DOIUrl":"https://doi.org/10.1080/19336950.2022.2049543","url":null,"abstract":"<p><p>In recent years, AMPK channel has gained considerable attention in a variety of research areas, and several academic journals have published articles on AMPK research. However, few attempts have been made to thoroughly assess the scientific output and current status systematically in this topic from a worldwide viewpoint. As a result, it is critical to adopt an appropriate visualization method to reveal the global status, future research trends, and hotspots in AMPK channel research. To investigate research hotspots/frontiers in certain domains, bibliometric analysis has been frequently utilized to determine the productivity of nations, institutions, authors, and the frequency of keywords. In this work, we used CiteSpace and VOSviewer to conduct a bibliometric analysis of AMPK channel studies from 2012 to 2021 in order to perform researchers with some directions for AMPK channel research.</p>","PeriodicalId":72555,"journal":{"name":"Channels (Austin, Tex.)","volume":" ","pages":"60-71"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8942423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40309129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic and cellular characterization of MscS-like putative channels in the filamentous fungus <i>Aspergillus nidulans</i>.","authors":"Mariangela Dionysopoulou,&nbsp;Nana Yan,&nbsp;Bolin Wang,&nbsp;Christos Pliotas,&nbsp;George Diallinas","doi":"10.1080/19336950.2022.2098661","DOIUrl":"https://doi.org/10.1080/19336950.2022.2098661","url":null,"abstract":"<p><p>Mechanosensitive ion channels are integral membrane proteins ubiquitously present in bacteria, archaea, and eukarya. They act as molecular sensors of mechanical stress to serve vital functions such as touch, hearing, osmotic pressure, proprioception and balance, while their malfunction is often associated with pathologies. Amongst them, the structurally distinct MscL and MscS channels from bacteria are the most extensively studied. MscS-like channels have been found in plants and <i>Schizosaccharomyces pombe</i>, where they regulate intracellular Ca²⁺ and cell volume under hypo-osmotic conditions. Here we characterize two MscS-like putative channels, named MscA and MscB, from the model filamentous fungus <i>Aspergillus nidulans</i>. Orthologues of MscA and MscB are present in most fungi, including relative plant and animal pathogens. MscA/MscB and other fungal MscS-like proteins share the three transmembrane helices and the extended C-terminal cytosolic domain that form the structural fingerprint of MscS-like channels with at least three additional transmembrane segments than <i>Escherichia coli</i> MscS. We show that MscA and MscB localize in Endoplasmic Reticulum and the Plasma Membrane, respectively, whereas their overexpression leads to increased CaCl₂ toxicity or/and reduction of asexual spore formation. Our findings contribute to understanding the role of MscS-like channels in filamentous fungi and relative pathogens.</p>","PeriodicalId":72555,"journal":{"name":"Channels (Austin, Tex.)","volume":" ","pages":"148-158"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9367656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40611172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Piezo1-mediated fluid shear stress promotes OPG and inhibits RANKL via NOTCH3 in MLO-Y4 osteocytes.","authors":"Zhongcheng Liu,&nbsp;Yuchen Tang,&nbsp;Liangzhi He,&nbsp;Bin Geng,&nbsp;Fan Lu,&nbsp;Jinwen He,&nbsp;Qiong Yi,&nbsp;Xuening Liu,&nbsp;Kun Zhang,&nbsp;Lifu Wang,&nbsp;Yayi Xia,&nbsp;Jin Jiang","doi":"10.1080/19336950.2022.2085379","DOIUrl":"https://doi.org/10.1080/19336950.2022.2085379","url":null,"abstract":"<p><p>Piezo1, a mechanosensitive ion channel, participates in a variety of biological processes in maintaining bone homeostasis. As the most abundant cells in bones of the mammals, osteocytes play an essential role in bone formation, remodeling, and bone mass maintenance. Here, by exposing MLO-Y4 osteocytes to the fluid shear stress (FSS) microenvironment, we explored the effect of Piezo1-mediated FSS on the expression of the molecules critical to the process of bone formation and resorption, Receptor Activator of Nuclear Factor-Kappa-B Ligand (RANKL) and Osteoprotegerin (OPG). It was found that 9 dyne/cm² loading for 30 minutes showed an upregulation trend on Piezo1 when MLO-Y4 osteocytes were exposed to an FSS microenvironment. FSS promotes the expression of OPG and inhibits the expression of RANKL. The blocker of Piezo1, GsMTx4, downregulates the effect of FSS on the expression of these two molecules. In addition, NOTCH3 was involved in this process. Thus, the results demonstrated that Piezo1-mediated FSS promotes the expression of OPG and inhibits the expression of RANKL via NOTCH3 in MLO-Y4 osteocytes.</p>","PeriodicalId":72555,"journal":{"name":"Channels (Austin, Tex.)","volume":" ","pages":"127-136"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9721416/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40400598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability.","authors":"Siyuan Zhao, Tibor Rohacs","doi":"10.1080/19336950.2021.1908781","DOIUrl":"10.1080/19336950.2021.1908781","url":null,"abstract":"<p><p>Transient Receptor Potential Melastatin 3 (TRPM3) is a Ca²⁺ permeable nonselective cation channel, activated by heat and chemical agonists, such as the endogenous neuro-steroid Pregnenolone Sulfate (PregS) and the chemical compound CIM0216. TRPM3 is expressed in peripheral sensory neurons of the dorsal root ganglia (DRG), and its role in noxious heat sensation in mice is well established. TRPM3 is also expressed in a number of other tissues, including the brain, but its role there has been largely unexplored. Recent reports showed that two mutations in TRPM3 are associated with a developmental and epileptic encephalopathy, pointing to an important role of TRPM3 in the human brain. Subsequent reports found that the two disease-associated mutations increased basal channel activity, and sensitivity of the channel to activation by heat and chemical agonists. This review will discuss these mutations in the context of human diseases caused by mutations in other TRP channels, and in the context of the biophysical properties and physiological functions of TRPM3.</p>","PeriodicalId":72555,"journal":{"name":"Channels (Austin, Tex.)","volume":" ","pages":"386-397"},"PeriodicalIF":0.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8057083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25589730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An emerging spectrum of variants and clinical features in <i>KCNMA1</i>-linked channelopathy.","authors":"Jacob P Miller, Hans J Moldenhauer, Sotirios Keros, Andrea L Meredith","doi":"10.1080/19336950.2021.1938852","DOIUrl":"10.1080/19336950.2021.1938852","url":null,"abstract":"<p><p><i>KCNMA1</i>-linked channelopathy is an emerging neurological disorder characterized by heterogeneous and overlapping combinations of movement disorder, seizure, developmental delay, and intellectual disability. <i>KCNMA1</i> encodes the BK K⁺ channel, which contributes to both excitatory and inhibitory neuronal and muscle activity. Understanding the basis of the disorder is an important area of active investigation; however, the rare prevalence has hampered the development of large patient cohorts necessary to establish genotype-phenotype correlations. In this review, we summarize 37 <i>KCNMA1</i> alleles from 69 patients currently defining the channelopathy and assess key diagnostic and clinical hallmarks. At present, 3 variants are classified as gain-of-function with respect to BK channel activity, 14 loss-of-function, 15 variants of uncertain significance, and putative benign/VUS. Symptoms associated with these variants were curated from patient-provided information and prior publications to define the spectrum of clinical phenotypes. In this newly expanded cohort, seizures showed no differential distribution between patients harboring GOF and LOF variants, while movement disorders segregated by mutation type. Paroxysmal non-kinesigenic dyskinesia was predominantly observed among patients with GOF alleles of the BK channel, although not exclusively so, while additional movement disorders were observed in patients with LOF variants. Neurodevelopmental and structural brain abnormalities were prevalent in patients with LOF mutations. In contrast to mutations, disease-associated <i>KCNMA1</i> single nucleotide polymorphisms were not predominantly related to neurological phenotypes but covered a wider set of peripheral physiological functions. Together, this review provides additional evidence exploring the genetic and biochemical basis for <i>KCNMA1-</i>linked channelopathy and summarizes the clinical repository of patient symptoms across multiple types of <i>KCNMA1</i> gene variants.</p>","PeriodicalId":72555,"journal":{"name":"Channels (Austin, Tex.)","volume":" ","pages":"447-464"},"PeriodicalIF":0.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8259716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39152036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trigeminal neuropathic pain is alleviated by inhibition of Ca_v3.3 T-type calcium channels in mice.","authors":"Marena Montera, Aleyah Goins, Leos Cmarko, Norbert Weiss, Karin N Westlund, Sascha R A Alles","doi":"10.1080/19336950.2020.1859248","DOIUrl":"10.1080/19336950.2020.1859248","url":null,"abstract":"<p><p>In this brief report, we demonstrate that the Ca_v3.3 T-type voltage-gated calcium channel subtype is involved in our FRICT-ION model of chronic trigeminal neuropathic pain. We first showed that the <i>Cacna1i</i> gene encoding Ca_v3.3 is significantly upregulated in whole trigeminal ganglia of FRICT-ION mice compared to controls at week 10 post-injury. We confirmed protein upregulation of Ca_v3.3 compared to controls using Western blot analysis of whole trigeminal ganglia tissues. Finally, we demonstrated that intraperitoneal injection of a selective TAT-based Ca_v3.3 blocking peptide in FRICT-ION mice significantly reduces Ca_v3.3 protein expression at the peak anti-allodynic effect (4 hrs post-injection) of the attenuated neuropathic pain behavior. We also suggest that blockade of Ca_v3.3 may be more effective in attenuating trigeminal neuropathic pain in female than male FRICT-ION mice. Therefore, blocking or attenuating Ca_v3.3 function may be an effective strategy for the treatment of trigeminal neuropathic pain.</p>","PeriodicalId":72555,"journal":{"name":"Channels (Austin, Tex.)","volume":" ","pages":"31-37"},"PeriodicalIF":0.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7781641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38343730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrated analysis of Solute carrier family-2 members reveals SLC2A4 as an independent favorable prognostic biomarker for breast cancer.","authors":"Zhenyu Shi,&nbsp;Jiahao Liu,&nbsp;Fei Wang,&nbsp;Yongqiang Li","doi":"10.1080/19336950.2021.1973788","DOIUrl":"https://doi.org/10.1080/19336950.2021.1973788","url":null,"abstract":"<p><p>Most of <i>Solute carrier family-2</i> (SLC2) members play a key role of facilitative transporters, and glucose transporter (GLUT) proteins encoded by <i>SLC2s</i> can transport hexoses or polyols. However, the function and mechanism of <i>SLC2s</i> remain unclear in human cancers. Here, we explored the dysregulated expression, prognostic values, epigenetic, genetic alterations, and biomolecular network of <i>SLC2s</i> in human cancers. According to the data from public-omicsrepository, <i>SLC2A4</i> (<i>GLUT4</i>) was found to be significantly downregulated in most cancers, and higher messenger RNA (mRNA) expression of <i>SLC2A4</i> significantly associated with better prognosis of breast cancer (BRCA) patients. Moreover, DNA hypermethylation in the promoter of <i>SLC2A4</i> may affect the regulation of its mRNA expression, and <i>SLC2A4</i> was strongly correlated with pathways, including the translocation of <i>SLC2A4</i> to the plasma membrane and PID INSULIN PATHWAY. In conclusion, these results provide insight into <i>SLC2s</i> in human cancers and suggest that <i>SLC2A4</i> could be an unfavorable prognostic biomarker for the survival of BRCA patients.</p>","PeriodicalId":72555,"journal":{"name":"Channels (Austin, Tex.)","volume":" ","pages":"555-568"},"PeriodicalIF":0.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8425726/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39389897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic and prognostic value of ABC transporter family member ABCG1 gene in clear cell renal cell carcinoma.","authors":"Fucheng Meng, Yafei Xiao, Longxiang Xie, Qiao Liu, Keli Qian","doi":"10.1080/19336950.2021.1909301","DOIUrl":"10.1080/19336950.2021.1909301","url":null,"abstract":"<p><p>As the most common histologic subtype of renal cancer, clear cell renal cell carcinoma (ccRCC) poses a serious threat to public health. However, there are no specific molecular-targeted drugs for ccRCC at present. Human ATP-binding cassette (ABC) transporter family plays an important role in homeostasis maintenance. This study aimed to evaluate the potential diagnostic value of <i>ABC</i> genes in ccRCC. A total of 952 samples of ccRCC patients (707) and controls (245) from three different datasets were included for analysis. Receiver operating characteristic analysis and t-test were used to analyze the differential expression of <i>ABC</i> genes in ccRCC patients and control samples at mRNA level during screening and validations. The Cancer Genome Atlas (TCGA-ccRCC) dataset was utilized to investigate the correlation between ABC genes expression and prognostic value in ccRCC. We then investigated the interactions between <i>ABCG1</i> and proteins in the Comparative Toxicogenomics Database (CTD). Finally, we found that ATP-binding cassette transporter G member 1 (<i>ABCG1</i>) was over-expressed in ccRCC patients compared with healthy samples at mRNA level. Cox regression analysis and Kaplan-Meier analysis showed that ccRCC patients with high <i>ABCG1</i> expression had better overall survival (OS) than those patients with low expression (hazard ratio (HR) = 0.662, <i>p</i> = 0.007). This study demonstrated that <i>ABCG1</i> is a potential diagnostic and prognostic biomarker in ccRCC and discussed the molecular mechanisms underlying the relationship between ccRCC and <i>ABCG1</i>, which might provide guidance for better management and treatment of ccRCC in the future.</p>","PeriodicalId":72555,"journal":{"name":"Channels (Austin, Tex.)","volume":" ","pages":"375-385"},"PeriodicalIF":0.0,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8032227/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25566372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}