Gene & protein in disease最新文献

筛选
英文 中文
Identification of stress-induced epigenetic methylation onto dopamine D2 gene and neurological and behavioral consequences. 鉴定压力诱导的多巴胺 D2 基因表观遗传甲基化及其神经和行为后果。
Gene & protein in disease Pub Date : 2024-03-29 DOI: 10.36922/gpd.1966
Kenneth Blum, Abdalla Bowirrat, David Baron, Igor Elman, Milan T Makale, Jean Lud Cadet, Panayotis K Thanos, Colin Hanna, Rania Ahmed, Marjorie C Gondre-Lewis, Catherine A Dennen, Eric R Braverman, Diwanshu Soni, Paul Carney, Jag Khalsa, Edward J Modestino, Debmalya Barh, Debasis Bagchi, Rajendra D Badgaiyan, Thomas McLaughlin, Rene Cortese, Mauro Ceccanti, Kevin T Murphy, Ashim Gupta, Miles T Makale, Keerthy Sunder, Mark S Gold
{"title":"Identification of stress-induced epigenetic methylation onto dopamine D2 gene and neurological and behavioral consequences.","authors":"Kenneth Blum, Abdalla Bowirrat, David Baron, Igor Elman, Milan T Makale, Jean Lud Cadet, Panayotis K Thanos, Colin Hanna, Rania Ahmed, Marjorie C Gondre-Lewis, Catherine A Dennen, Eric R Braverman, Diwanshu Soni, Paul Carney, Jag Khalsa, Edward J Modestino, Debmalya Barh, Debasis Bagchi, Rajendra D Badgaiyan, Thomas McLaughlin, Rene Cortese, Mauro Ceccanti, Kevin T Murphy, Ashim Gupta, Miles T Makale, Keerthy Sunder, Mark S Gold","doi":"10.36922/gpd.1966","DOIUrl":"10.36922/gpd.1966","url":null,"abstract":"<p><p>The D2 dopamine receptor (<i>DRD2</i>) gene has garnered substantial attention as one of the most extensively studied genes across various neuropsychiatric disorders. Since its initial association with severe alcoholism in 1990, particularly through the identification of the <i>DRD2 Taq A1</i> allele, numerous international investigations have been conducted to elucidate its role in different conditions. As of February 22, 2024, there are 5485 articles focusing on the <i>DRD2</i> gene listed in PUBMED. There have been 120 meta-analyses with mixed results. In our opinion, the primary cause of negative reports regarding the association of various <i>DRD2</i> gene polymorphisms is the inadequate screening of controls, not adequately eliminating many hidden reward deficiency syndrome behaviors. Moreover, pleiotropic effects of <i>DRD2</i> variants have been identified in neuropsychologic, neurophysiologic, stress response, social stress defeat, maternal deprivation, and gambling disorder, with epigenetic DNA methylation and histone post-translational negative methylation identified as discussed in this article. There are 70 articles listed in PUBMED for DNA methylation and 20 articles listed for histone methylation as of October 19, 2022. For this commentary, we did not denote DNA and/or histone methylation; instead, we provided a brief summary based on behavioral effects. Based on the fact that Blum and Noble characterized the <i>DRD2 Taq A1</i> allele as a generalized reward gene and not necessarily specific alcoholism, it now behooves the field to find ways to either use effector moieties to edit the neuroepigenetic insults or possibly harness the idea of potentially removing negative mRNA-reduced expression by inducing \"dopamine homeostasis.\"</p>","PeriodicalId":73136,"journal":{"name":"Gene & protein in disease","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11100097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141066254","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}
引用次数: 0
Association between dietary soy prevention of fetal alcohol spectrum disorder and normalization of placental insulin and insulin-like growth factor signaling networks and downstream effector molecule expression.
Gene & protein in disease Pub Date : 2024-01-01 Epub Date: 2024-06-13 DOI: 10.36922/gpd.3113
Fusun Gundogan, Ming Tong, Suzanne M de la Monte
{"title":"Association between dietary soy prevention of fetal alcohol spectrum disorder and normalization of placental insulin and insulin-like growth factor signaling networks and downstream effector molecule expression.","authors":"Fusun Gundogan, Ming Tong, Suzanne M de la Monte","doi":"10.36922/gpd.3113","DOIUrl":"https://doi.org/10.36922/gpd.3113","url":null,"abstract":"<p><p>Chronic prenatal alcohol exposure causes fetal alcohol spectrum disorder (FASD), often associated with impaired placentation and intrauterine growth restriction. Ethanol's inhibition of insulin and insulin-like growth factor Type 1 (IGF-1) signaling compromises trophoblastic cell motility and maternal vascular transformation at the implantation site. Previous studies have demonstrated that dietary soy effectively normalizes placentation and fetal growth in an experimental model of FASD. The studies were extended to better understand the mechanisms underlying soy's beneficial effects. Pregnant Long Evans rats were pair-fed with isocaloric liquid diets containing either 0% or 36% caloric ethanol from gestation day (GD) 6. The protein source in the diets consisted of either casein (standard and control) or soy isolate. On GD19, placentas were harvested to measure mRNA levels corresponding to major components of the insulin/IGF-1 pathway, as well as aspartyl-asparaginyl-β-hydroxylase (ASPH), Notch, and HES, which play critical roles in placentation. Chronic gestational ethanol exposure in rats fed diets containing casein significantly reduced the expression of insulin, insulin receptor, <i>Igf1</i>, IGF-1 receptor (<i>Igf1r</i>), insulin receptor substrate Type 1 (<i>Irs1</i>), <i>Irs2</i>, <i>Asph</i>, and <i>Hes1</i>. In addition, ethanol significantly decreased ASPH protein expression. Dietary soy mitigated most of these effects and further enhanced signaling by upregulating <i>Igf2</i>, <i>Igf2r</i>, <i>Irs1</i>, <i>Irs2</i>, <i>Irs4</i>, <i>Notch</i>, and <i>Hes1</i> in rats chronically exposed to ethanol relative to corresponding control samples. The protective effects of dietary soy in FASD act at the mRNA level and positively impact pathways imperative for normal placentation and fetal development. Gestational dietary soy may provide an effective means of preventing FASD in vulnerable populations.</p>","PeriodicalId":73136,"journal":{"name":"Gene & protein in disease","volume":"3 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11807375/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383696","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}
引用次数: 0
Identification of hotspots in synthetic peptide inhibitors of the FOXO4:p53 interaction FOXO4:p53相互作用合成肽抑制剂热点的鉴定
Gene & protein in disease Pub Date : 2023-09-29 DOI: 10.36922/gpd.1491
Ran Zhang, Kai Gao, Afsaneh Sadremomtaz, Angel J. Ruiz-Moreno, Alessandra Monti, Zayana M. Al-Dahmani, Benjamin B. Gyau, Nunzianna Doti, Matthew R. Groves
{"title":"Identification of hotspots in synthetic peptide inhibitors of the FOXO4:p53 interaction","authors":"Ran Zhang, Kai Gao, Afsaneh Sadremomtaz, Angel J. Ruiz-Moreno, Alessandra Monti, Zayana M. Al-Dahmani, Benjamin B. Gyau, Nunzianna Doti, Matthew R. Groves","doi":"10.36922/gpd.1491","DOIUrl":"https://doi.org/10.36922/gpd.1491","url":null,"abstract":"Forkhead box protein O4 (FOXO4) plays a pivotal role in cellular senescence by binding to and inactivating p53. Consequently, misregulation of the FOXO4:p53 complex is associated with numerous diseases. Targeting the FOXO4-p53 interface has been achieved using a synthetic D-retro-inverso (DRI) peptide derived from the forkhead-homology domain of FOXO4 (FOXO4-FDH), also known as DRI (FOXO4-FHD residues 91&amp;ndash;124). However, a comprehensive understanding of the key amino acids driving the interaction between DRI and p53 remains incomplete. While previous publications have demonstrated a robust interaction between the forkhead homology domain of FOXO4 (FOXO4-FHD) and the transactivation domain of p53 (p53-TAD), emerging evidence suggests that the interaction within the binary complex forms a highly interconnected network, including a predicted interaction between FOXO4-FHD and the DNA-binding domain of p53 (p53-DBD). In this study, we investigated the DRI: p53-DBD interaction by measuring the binding affinities of DRI and the native peptide of FOXO4, from which it is derived, to p53-DBD using microscale thermophoresis and computational modeling. Our in vitro measurements reveal that DRI binds to p53-DBD with high affinity (Kd ~50 nM), while the native peptide exhibits significantly weaker binding affinity (Kd ~2.5 mM), implying distinct modes of interaction. Subsequently, we created an in silico model of the DRI: p53-DBD interaction, which we analyzed to identify potential interaction hotspots. The analysis of this model suggests that a truncated DRI peptide (FOXO4-FHD amino acids 101&amp;ndash;109) retains the majority of the binding affinity, as subsequently demonstrated in vitro (Kd ~40 nM). Collectively, this data furnishes molecular-level insights that contribute to the understanding of the interplay of the amino acids between DRI and p53, further supporting the notion of domain rearrangement or refolding during the formation of the FOXO4:p53 complex. In addition, this data provides an additional basis for the design of small molecules aimed at inhibiting this interaction.","PeriodicalId":73136,"journal":{"name":"Gene & protein in disease","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135296471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Multisystem inflammatory syndrome in adult with longitudinally extensive transverse myelitis following SARS-CoV-2 vaccination: A case report 成人SARS-CoV-2疫苗接种后纵向广泛横断面脊髓炎的多系统炎症综合征1例报告
Gene & protein in disease Pub Date : 2023-09-29 DOI: 10.36922/gpd.1320
Anirban Gupta, Sudheer Pandey, Pawan Dhull, Amit Sreen, Satish Barki, Krishna Kumar, Kompella Kiran Kumar
{"title":"Multisystem inflammatory syndrome in adult with longitudinally extensive transverse myelitis following SARS-CoV-2 vaccination: A case report","authors":"Anirban Gupta, Sudheer Pandey, Pawan Dhull, Amit Sreen, Satish Barki, Krishna Kumar, Kompella Kiran Kumar","doi":"10.36922/gpd.1320","DOIUrl":"https://doi.org/10.36922/gpd.1320","url":null,"abstract":"Multisystem inflammatory syndrome in adults (MIS-A) is a known complication arising after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection or vaccination. However, longitudinal extensive transverse myelitis (LETM), which is a neurological manifestation of MIS-A, is rarely reported among individuals after SARS-CoV-2 infection or vaccination. Here, we present a case of a 38-year-old female, with a history of SARS-CoV-2 infection in May 2021 and subsequent SARS-CoV-2 vaccination (on November 1, 2021; COVISHIELD&amp;trade;, ChAdOx1 nCoV-19 Corona Virus Vaccine), who presented with acute flaccid quadriparesis with bowel and bladder involvement since December 26, 2021. While being treated in the hospital, she developed fever, rash, shock, myocarditis, breathlessness, jaundice, and acute kidney injury. Magnetic resonance Imaging revealed LETM. She was negative for SARS-CoV-2 infection and showed raised in SARS-CoV-2 antibody titer. Thus, she was diagnosed as having MIS-A with LETM and managed with Intravenous Immunoglobulin, antibiotics, hemodialysis, and steroids with improvement.","PeriodicalId":73136,"journal":{"name":"Gene & protein in disease","volume":"76 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135296118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
In silico mutation analysis of the SARS-CoV-2 Spike glycoprotein in the Omicron (B.1.1.529) variant isolated from the Iraqi patients 伊拉克患者分离的Omicron (B.1.1.529)变异SARS-CoV-2刺突糖蛋白的计算机突变分析
Gene & protein in disease Pub Date : 2023-09-29 DOI: 10.36922/gpd.1646
Dana Khdr Sabir
{"title":"In silico mutation analysis of the SARS-CoV-2 Spike glycoprotein in the Omicron (B.1.1.529) variant isolated from the Iraqi patients","authors":"Dana Khdr Sabir","doi":"10.36922/gpd.1646","DOIUrl":"https://doi.org/10.36922/gpd.1646","url":null,"abstract":"Since its first breakout in December 2019, the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has impacted the lives of millions of people worldwide. The virus has been rapidly mutating, and the accumulation of various mutations has precipitated the emergence of several new variants. The Omicron variant (B.1.1.529 lineage) was first identified in Botswana and South Africa back in November 2021. Since then, several Omicron sub-lineages have emerged as a result of hypermutations. In this study, a computational analysis of the 381 spike glycoprotein (S protein) of the SARS-CoV-2 Omicron variants isolated from Iraqi patients was performed. The full-length S protein sequences (1273 amino acids) were obtained from the publicly accessible Global Initiative on Sharing All Influenza Data database. A total of 60 mutation sites were recognized: 49 substitution sites, ten deletions, and one insertion. K417N and N440K were the most prevalent mutations (n = 379, 99.4%), followed by G339D (n = 377, 98.9%) and S373P and S375F (both n = 367, 96.3%). Both BA.1.1 (n = 198, 52%) and BA.1 (n = 91, 14%) were the predominant variant types encountered throughout this study. The current work offers the data of SARS-CoV-2 Omicron variants derived from the Iraqi patients. The data from this study could assist in the molecular design of more potent vaccines and/or antiviral drugs against the virus and also provide a fundamental understanding of SARS-CoV-2 evolution with concerns about their pathogenicity.","PeriodicalId":73136,"journal":{"name":"Gene & protein in disease","volume":"45 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135295912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Testosterone as a biomarker of colorectal cancer in the South Indian population 睾酮作为南印度人群结直肠癌的生物标志物
Gene & protein in disease Pub Date : 2023-09-29 DOI: 10.36922/gpd.1082
Mohd Younis, Sevgi Gezici, Amrit Sudershan, Sanjeev Kumar Digra, Ashma Gupta, Arun Meyyazhagan, Parvinder Kumar, Vijaya Anand
{"title":"Testosterone as a biomarker of colorectal cancer in the South Indian population","authors":"Mohd Younis, Sevgi Gezici, Amrit Sudershan, Sanjeev Kumar Digra, Ashma Gupta, Arun Meyyazhagan, Parvinder Kumar, Vijaya Anand","doi":"10.36922/gpd.1082","DOIUrl":"https://doi.org/10.36922/gpd.1082","url":null,"abstract":"Colorectal cancer (CRC) is a highly life-threatening disease associated with a significant mortality rate. It has been proposed that testosterone levels may play a role in predisposing individuals to such devastating conditions. Testosterone primarily governs the maturation of the male reproductive system while also exerting physiological effects in both genders. In the present study, we investigated testosterone levels in CRC patients among the South Indian population. Blood samples were collected in the hospitals in Tamil Nadu, South India, and a cohort of healthy controls was selected for comparative analysis. A total of 130 subjects participated in the study, consisting of 65 CRC patients and an equal number of healthy controls. Approximately 7 mL of blood was collected from each subject for radioimmunoassay. The results of radioimmunoassay on the blood samples were analyzed using SPSS to assess differences between discrete and continuous data variables. Chi-square and t-tests were conducted for statistical evaluation. CRC patients exhibited significantly (P < 0.0001) reduced mean testosterone levels (06.68 &amp;plusmn; 2.15 nmol/L) compared to controls (22.54 &amp;plusmn; 8.85 nmol/L). Further stratification by smoking status revealed that non-smoker CRC patients had lower testosterone levels (06.81 &amp;plusmn; 2.21 nmol/L) than non-smoking controls (10.15 &amp;plusmn; 2.48 nmol/L), with a statistically significant difference (P < 0.0001). Adjusting for alcohol consumption, CRC patients displayed decreased mean testosterone levels (06.31 &amp;plusmn; 2.30 nmol/L) compared to controls (07.96 &amp;plusmn; 2.45 nmol/L), and this difference was found to be significant (P < 0.022). These findings support the notion that reduced testosterone levels serve as a critical risk biomarker in the pathogenesis of CRC.","PeriodicalId":73136,"journal":{"name":"Gene & protein in disease","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135296119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comprehensive prognostic signatures in thyroid cancer: A summarized review for molecular signatures construction strategies 甲状腺癌的综合预后特征:分子特征构建策略综述
Gene & protein in disease Pub Date : 2023-09-20 DOI: 10.36922/gpd.1138
Xiaoyan Lu, Yuanyuan Zhang, Pei Yang, Minjun Yi, Luyao Wang, Jing Chen, Han Wang, Mengke Li, Yufei Jiang, Bingbing Guo, Wenyuan Lu, Shijia Li, Jiahao Chen, Yingying Lian, Xinyu Li, Binbin Zhao, Xiaoqing Wang, Yang An
{"title":"Comprehensive prognostic signatures in thyroid cancer: A summarized review for molecular signatures construction strategies","authors":"Xiaoyan Lu, Yuanyuan Zhang, Pei Yang, Minjun Yi, Luyao Wang, Jing Chen, Han Wang, Mengke Li, Yufei Jiang, Bingbing Guo, Wenyuan Lu, Shijia Li, Jiahao Chen, Yingying Lian, Xinyu Li, Binbin Zhao, Xiaoqing Wang, Yang An","doi":"10.36922/gpd.1138","DOIUrl":"https://doi.org/10.36922/gpd.1138","url":null,"abstract":"Thyroid carcinoma (TC) is one of the most common endocrine carcinomas with an increasing rate of morbidity in recent decades. With a high risk of relapse and metastasis occurring in TC patients, it is essential to identify potential prognostic signatures for TC patients. Here, through a comprehensive review, we summarized 45 prognostic signatures for TC patients and concluded three main strategies for signature establishment after an extensive investigation. In particular, these signatures were classified according to different construction strategies, and the verification methods were summarized. Besides, we found that 18 key genes were overrepresented in reported signatures. This review provides a comprehensive understanding, systematic summary, and integrated analysis of current prognostic signatures of TC, which may help researchers to further understand cancer progression, construct prognostic signatures of TC, and guide future clinical treatment.","PeriodicalId":73136,"journal":{"name":"Gene & protein in disease","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136314075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysis of multi-disease targeting effect of phytochemicals by AMPK stimulation– diabetes: A computational approach 植物化学物质在AMPK刺激下的多疾病靶向效应分析-糖尿病:一个计算方法
Gene & protein in disease Pub Date : 2023-09-12 DOI: 10.36922/gpd.0927
Richa Goyal, Manoj Kumar, Muhammad Anwar Mallick
{"title":"Analysis of multi-disease targeting effect of phytochemicals by AMPK stimulation– diabetes: A computational approach","authors":"Richa Goyal, Manoj Kumar, Muhammad Anwar Mallick","doi":"10.36922/gpd.0927","DOIUrl":"https://doi.org/10.36922/gpd.0927","url":null,"abstract":"Diabetes is a silent killer and a metabolic syndrome characterized by hyperglycemia that has been exponentially increasing in recent years. There is a need to develop therapeutic agents to control hyperglycemia and its secondary complications as well as protect and revive beta cells in diabetic patients. The target for first-line diabetes treatment is the adenosine monophosphate protein kinase (AMPK), which participates in cellular energy metabolism through phosphorylation of metabolic enzymes and transcription regulators. This study examined the drug-related properties as well as lead preparation of Catharanthus roseus alkaloids and testing molecular interaction at the AMPK targets to confirm their anti-diabetic effect. A control drug metformin and a library of 85 molecules of C. roseus alkaloids were crossed with the ADMET test, followed by the investigation of molecular interaction tested on AMPK1 and AMPK2 targets through an in silico docking process. Vindolinine (CID: 24148538), vindoline (CID: 425978), (+)-vindorosine (CID: 261578), Cr-1 (CID: 5315746), and Cr-2 (CID: 59908094) had passed the ADMET test. Molecular interaction of the tested C. roseus alkaloids on AMPK1 and AMPK2 targets had potential energy that varied from &amp;minus;7.4 to &amp;minus;5.3 kcal/mol, whereas binding energies of &amp;minus;4.0 kcal/mol for AMPK1-metformin interaction and &amp;minus;4.2 kcal/mol for AMPK2-metformin interaction were observed. The tested C. roseus alkaloids were shown to be more potent activators of AMPK than the control drug. All five biomolecules of C. roseus acted as modulators that have the potential to stimulate AMPK, reduce glucose production, and increase glucose utilization in hepatocytes. In addition, they diminished insulin resistance and secondary complications of diabetes by inhibiting acetyl-CoA carboxylase, regulating cholesterol levels and macrophage, and reviving beta cells in Type 2 diabetes. These results provided the foundation for developing new multi-disease-targeting drugs that can treat diabetes, obesity, cardiovascular disease, cancer, and other diseases by the stimulation of AMPK1 and AMPK2 targets.","PeriodicalId":73136,"journal":{"name":"Gene & protein in disease","volume":"32 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135878612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An updated review on the genetics of arteriovenous malformations. 动静脉畸形遗传学最新综述。
Gene & protein in disease Pub Date : 2023-06-30 Epub Date: 2023-06-26 DOI: 10.36922/gpd.0312
Krisna Maddy, Anjalika Chalamgari, Ogechukwu Ariwodo, Zhuri Nisseau-Bey, Justin Maldonado, Brandon Lucke-Wold
{"title":"An updated review on the genetics of arteriovenous malformations.","authors":"Krisna Maddy, Anjalika Chalamgari, Ogechukwu Ariwodo, Zhuri Nisseau-Bey, Justin Maldonado, Brandon Lucke-Wold","doi":"10.36922/gpd.0312","DOIUrl":"10.36922/gpd.0312","url":null,"abstract":"<p><p>Arteriovenous malformations (AVM) are congenital malformations of the cerebral vasculature resulting in pathological shunting of blood through dilated arteries and veins. The most common clinical manifestations of AVM are intracerebral hemorrhage, due to rupture of these lesions as they continue to expand, which can have devastating neurological consequences and residual deficits. The genetic underpinnings of AVM have been explored for their role in the angiogenesis of these lesions in both its sporadic and inherited forms. In recent times, our understanding of the genetic variation involved in the pathogenesis AVM has advanced in both the preclinical and clinical realms. The current review highlights in detail these advancements, namely, the genetic underpinnings of diagnostic testing and profiling of AVM, and the preclinical epigenetic and genetic data on AVM pathogenesis and growth. In addition, we review the current candidate genes implicated in AVM pathogenesis in the literature. Finally, we provide a discussion on the genetic conditions associated with AVM and the advancements in treatment paradigms influenced by the genetic profiles of these lesions.</p>","PeriodicalId":73136,"journal":{"name":"Gene & protein in disease","volume":"2 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10190102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
How the West(ern) was won: Solutions for immunoblotting large and small proteins West(ern)如何获胜:免疫印迹大蛋白和小蛋白的解决方案
Gene & protein in disease Pub Date : 2023-06-30 DOI: 10.36922/gpd.0547
Paula Llabata, Pere Llinàs-Arias
{"title":"How the West(ern) was won: Solutions for immunoblotting large and small proteins","authors":"Paula Llabata, Pere Llinàs-Arias","doi":"10.36922/gpd.0547","DOIUrl":"https://doi.org/10.36922/gpd.0547","url":null,"abstract":"Relative protein quantification is a well-established technique in the vast majority of molecular biology laboratories. However, western blot standard protocols may not detect proteins of certain sizes. When the molecular weight of protein of interest is out of the 10–250 kDa range, its migration through the gel or transfer to the membrane is compromised, making its detection difficult. Here, we present a set of modifications of the standard working procedure for western blotting based on the experience working with small VCP-interacting protein and MAX-gene-associated protein, whose molecular weights are 8 and 350 kDa, respectively. We expect that these adaptations may help researchers to improve their experiments in a cost-effective manner.","PeriodicalId":73136,"journal":{"name":"Gene & protein in disease","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136101451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信