Critical Reviews in Biochemistry and Molecular Biology最新文献_第5页

Reprogramming of the epigenome in neurodevelopmental disorders. 神经发育障碍的表观基因组重编程。

IF 6.5 2区生物学

Critical Reviews in Biochemistry and Molecular Biology Pub Date : 2022-02-01 DOI: 10.1080/10409238.2021.1979457

Khadija D Wilson, Elizabeth G Porter, Benjamin A Garcia

{"title":"Reprogramming of the epigenome in neurodevelopmental disorders.","authors":"Khadija D Wilson, Elizabeth G Porter, Benjamin A Garcia","doi":"10.1080/10409238.2021.1979457","DOIUrl":"https://doi.org/10.1080/10409238.2021.1979457","url":null,"abstract":"The etiology of neurodevelopmental disorders (NDDs) remains a challenge for researchers. Human brain development is tightly regulated and sensitive to cellular alterations caused by endogenous or exogenous factors. Intriguingly, the surge of clinical sequencing studies has revealed that many of these disorders are monogenic and monoallelic. Notably, chromatin regulation has emerged as highly dysregulated in NDDs, with many syndromes demonstrating phenotypic overlap, such as intellectual disabilities, with one another. Here we discuss epigenetic writers, erasers, readers, remodelers, and even histones mutated in NDD patients, predicted to affect gene regulation. Moreover, this review focuses on disorders associated with mutations in enzymes involved in histone acetylation and methylation, and it highlights syndromes involving chromatin remodeling complexes. Finally, we explore recently discovered histone germline mutations and their pathogenic outcome on neurological function. Epigenetic regulators are mutated at every level of chromatin organization. Throughout this review, we discuss mechanistic investigations, as well as various animal and iPSC models of these disorders and their usefulness in determining pathomechanism and potential therapeutics. Understanding the mechanism of these mutations will illuminate common pathways between disorders. Ultimately, classifying these disorders based on their effects on the epigenome will not only aid in prognosis in patients but will aid in understanding the role of epigenetic machinery throughout neurodevelopment.","PeriodicalId":10794,"journal":{"name":"Critical Reviews in Biochemistry and Molecular Biology","volume":"57 1","pages":"73-112"},"PeriodicalIF":6.5,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9462920/pdf/nihms-1832813.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9162784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

Mechanisms of hexameric helicases. 六聚体螺旋酶的机制。

IF 6.5 2区生物学

Critical Reviews in Biochemistry and Molecular Biology Pub Date : 2021-12-01 Epub Date: 2021-08-17 DOI: 10.1080/10409238.2021.1954597

Amy J Fernandez, James M Berger

引用次数: 0

Cellular mechanisms of mtDNA heteroplasmy dynamics. 线粒体dna异质性动力学的细胞机制。

IF 6.5 2区生物学

Critical Reviews in Biochemistry and Molecular Biology Pub Date : 2021-10-01 DOI: 10.1080/10409238.2021.1934812

Claudia V Pereira, Bryan L Gitschlag, Maulik R Patel

{"title":"Cellular mechanisms of mtDNA heteroplasmy dynamics.","authors":"Claudia V Pereira, Bryan L Gitschlag, Maulik R Patel","doi":"10.1080/10409238.2021.1934812","DOIUrl":"https://doi.org/10.1080/10409238.2021.1934812","url":null,"abstract":"Heteroplasmy refers to the coexistence of more than one variant of the mitochondrial genome (mtDNA). Mutated or partially deleted mtDNAs can induce chronic metabolic impairment and cause mitochondrial diseases when their heteroplasmy levels exceed a critical threshold. These mutant mtDNAs can be maternally inherited or can arise de novo. Compelling evidence has emerged showing that mutant mtDNA levels can vary and change in a nonrandom fashion across generations and amongst tissues of an individual. However, our lack of understanding of the basic cellular and molecular mechanisms of mtDNA heteroplasmy dynamics has made it difficult to predict who will inherit or develop mtDNA-associated diseases. More recently, with the advances in technology and the establishment of tractable model systems, insights into the mechanisms underlying the selection forces that modulate heteroplasmy dynamics are beginning to emerge. In this review, we summarize evidence from different organisms, showing that mutant mtDNA can experience both positive and negative selection. We also review the recently identified mechanisms that modulate heteroplasmy dynamics. Taken together, this is an opportune time to survey the literature and to identify key cellular pathways that can be targeted to develop therapies for diseases caused by heteroplasmic mtDNA mutations.","PeriodicalId":10794,"journal":{"name":"Critical Reviews in Biochemistry and Molecular Biology","volume":"56 5","pages":"510-525"},"PeriodicalIF":6.5,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/10409238.2021.1934812","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10118076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 17

The leucine-responsive regulatory proteins/feast-famine regulatory proteins: an ancient and complex class of transcriptional regulators in bacteria and archaea. 亮氨酸反应调节蛋白/饥饿-饥饿调节蛋白:细菌和古生菌中一类古老而复杂的转录调节蛋白。

IF 6.5 2区生物学

Critical Reviews in Biochemistry and Molecular Biology Pub Date : 2021-08-01 Epub Date: 2021-06-20 DOI: 10.1080/10409238.2021.1925215

Christine A Ziegler, Peter L Freddolino

{"title":"The leucine-responsive regulatory proteins/feast-famine regulatory proteins: an ancient and complex class of transcriptional regulators in bacteria and archaea.","authors":"Christine A Ziegler, Peter L Freddolino","doi":"10.1080/10409238.2021.1925215","DOIUrl":"https://doi.org/10.1080/10409238.2021.1925215","url":null,"abstract":"Since the discovery of the Escherichia coli leucine-responsive regulatory protein (Lrp) almost 50 years ago, hundreds of Lrp homologs have been discovered, occurring in 45% of sequenced bacteria and almost all sequenced archaea. Lrp-like proteins are often referred to as the feast/famine regulatory proteins (FFRPs), reflecting their common regulatory roles. Acting as either global or local transcriptional regulators, FFRPs detect the environmental nutritional status by sensing small effector molecules (usually amino acids) and regulate the expression of genes involved in metabolism, virulence, motility, nutrient transport, stress tolerance, and antibiotic resistance to implement appropriate behaviors for the specific ecological niche of each organism. Despite FFRPs' complexity, a significant role in gene regulation, and prevalence throughout prokaryotes, the last comprehensive review on this family of proteins was published about a decade ago. In this review, we integrate recent notable findings regarding E. coli Lrp and other FFRPs across bacteria and archaea with previous observations to synthesize a more complete view on the mechanistic details and biological roles of this ancient class of transcription factors.","PeriodicalId":10794,"journal":{"name":"Critical Reviews in Biochemistry and Molecular Biology","volume":"56 4","pages":"373-400"},"PeriodicalIF":6.5,"publicationDate":"2021-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/10409238.2021.1925215","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39257663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 17

Miro proteins connect mitochondrial function and intercellular transport. Miro蛋白连接线粒体功能和细胞间运输。

IF 6.5 2区生物学

Critical Reviews in Biochemistry and Molecular Biology Pub Date : 2021-08-01 Epub Date: 2021-06-17 DOI: 10.1080/10409238.2021.1925216

Zuzana Nahacka, Renata Zobalova, Maria Dubisova, Jakub Rohlena, Jiri Neuzil

{"title":"Miro proteins connect mitochondrial function and intercellular transport.","authors":"Zuzana Nahacka, Renata Zobalova, Maria Dubisova, Jakub Rohlena, Jiri Neuzil","doi":"10.1080/10409238.2021.1925216","DOIUrl":"https://doi.org/10.1080/10409238.2021.1925216","url":null,"abstract":"Mitochondria are organelles present in most eukaryotic cells, where they play major and multifaceted roles. The classical notion of the main mitochondrial function as the powerhouse of the cell per se has been complemented by recent discoveries pointing to mitochondria as organelles affecting a number of other auxiliary processes. They go beyond the classical energy provision via acting as a relay point of many catabolic and anabolic processes, to signaling pathways critically affecting cell growth by their implication in de novo pyrimidine synthesis. These additional roles further underscore the importance of mitochondrial homeostasis in various tissues, where its deregulation promotes a number of pathologies. While it has long been known that mitochondria can move within a cell to sites where they are needed, recent research has uncovered that mitochondria can also move between cells. While this intriguing field of research is only emerging, it is clear that mobilization of mitochondria requires a complex apparatus that critically involves mitochondrial proteins of the Miro family, whose role goes beyond the mitochondrial transfer, as will be covered in this review.","PeriodicalId":10794,"journal":{"name":"Critical Reviews in Biochemistry and Molecular Biology","volume":"56 4","pages":"401-425"},"PeriodicalIF":6.5,"publicationDate":"2021-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/10409238.2021.1925216","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39241960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 10

ETF dehydrogenase advances in molecular genetics and impact on treatment. ETF脱氢酶的分子遗传学进展及其治疗影响。

IF 6.5 2区生物学

Critical Reviews in Biochemistry and Molecular Biology Pub Date : 2021-08-01 Epub Date: 2021-04-07 DOI: 10.1080/10409238.2021.1908952

Sara Missaglia, Daniela Tavian, Corrado Angelini

{"title":"ETF dehydrogenase advances in molecular genetics and impact on treatment.","authors":"Sara Missaglia, Daniela Tavian, Corrado Angelini","doi":"10.1080/10409238.2021.1908952","DOIUrl":"https://doi.org/10.1080/10409238.2021.1908952","url":null,"abstract":"Electron transfer flavoprotein dehydrogenase, also called ETF-ubiquinone oxidoreductase (ETF-QO), is a protein localized in the inner membrane of mitochondria, playing a central role in the electron-transfer system. Indeed, ETF-QO mediates electron transport from flavoprotein dehydrogenases to the ubiquinone pool. ETF-QO mutations are often associated with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD, OMIM#231680), a multisystem genetic disease characterized by various clinical manifestations with different degrees of severity. In this review, we outline the clinical features correlated with ETF-QO deficiency and the benefits obtained from different treatments, such as riboflavin, L-carnitine and/or coenzyme Q10 supplementation, and a diet poor in fat and protein. Moreover, we provide a detailed summary of molecular and bioinformatic investigations, describing the mutations identified in ETFDH gene and highlighting their predicted impact on enzymatic structure and activity. In addition, we report biochemical and functional analysis, performed in HEK293 cells and patient fibroblasts and muscle cells, to show the relationship between the nature of ETFDH mutations, the variable impairment of enzyme function, and the different degrees of RR-MADD severity. Finally, we describe in detail 5 RR-MADD patients carrying different ETFDH mutations and presenting variable degrees of clinical symptom severity.","PeriodicalId":10794,"journal":{"name":"Critical Reviews in Biochemistry and Molecular Biology","volume":"56 4","pages":"360-372"},"PeriodicalIF":6.5,"publicationDate":"2021-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/10409238.2021.1908952","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25565156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 15

Cholesterol efflux pathways, inflammation, and atherosclerosis. 胆固醇流出途径、炎症和动脉粥样硬化。

IF 6.2 2区生物学

Critical Reviews in Biochemistry and Molecular Biology Pub Date : 2021-08-01 Epub Date: 2021-06-28 DOI: 10.1080/10409238.2021.1925217

Anouk G Groenen, Benedek Halmos, Alan R Tall, Marit Westerterp

{"title":"Cholesterol efflux pathways, inflammation, and atherosclerosis.","authors":"Anouk G Groenen, Benedek Halmos, Alan R Tall, Marit Westerterp","doi":"10.1080/10409238.2021.1925217","DOIUrl":"10.1080/10409238.2021.1925217","url":null,"abstract":"Plasma levels of high-density lipoprotein (HDL) inversely correlate with the incidence of cardiovascular diseases (CVD). The causal relationship between plasma HDL-cholesterol levels and CVD has been called into question by Mendelian randomization studies and the majority of clinical trials not showing any benefit of plasma HDL-cholesterol raising drugs on CVD. Nonetheless, recent Mendelian randomization studies including an increased number of CVD cases compared to earlier studies have confirmed that HDL-cholesterol levels and CVD are causally linked. Moreover, several studies in large population cohorts have shown that the cholesterol efflux capacity of HDL inversely correlates with CVD. Cholesterol efflux pathways exert anti-inflammatory and anti-atherogenic effects by suppressing proliferation of hematopoietic stem and progenitor cells, and inflammation and inflammasome activation in macrophages. Cholesterol efflux pathways also suppress the accumulation of cholesteryl esters in macrophages, i.e. macrophage foam cell formation. Recent single-cell RNASeq studies on atherosclerotic plaques have suggested that macrophage foam cells have lower expression of inflammatory genes than non-foam cells, probably reflecting liver X receptor activation, upregulation of ATP Binding Cassette A1 and G1 cholesterol transporters and suppression of inflammation. However, when these pathways are defective lesional foam cells may become pro-inflammatory.","PeriodicalId":10794,"journal":{"name":"Critical Reviews in Biochemistry and Molecular Biology","volume":"56 4","pages":"426-439"},"PeriodicalIF":6.2,"publicationDate":"2021-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f0/b4/nihms-1793347.PMC9007272.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39117763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

How can a traffic light properly work if it is always green? The paradox of CK2 signaling. 如果交通灯一直是绿色的，它怎么能正常工作呢?CK2信号的悖论。

IF 6.5 2区生物学

Critical Reviews in Biochemistry and Molecular Biology Pub Date : 2021-08-01 Epub Date: 2021-04-11 DOI: 10.1080/10409238.2021.1908951

Christian Borgo, Claudio D'Amore, Luca Cesaro, Stefania Sarno, Lorenzo A Pinna, Maria Ruzzene, Mauro Salvi

引用次数: 17

The role of non-genetic information in evolutionary frameworks. 非遗传信息在进化框架中的作用。

IF 6.5 2区生物学

Critical Reviews in Biochemistry and Molecular Biology Pub Date : 2021-06-01 Epub Date: 2021-05-10 DOI: 10.1080/10409238.2021.1908949

Katherine L Moran, Yelyzaveta Shlyakhtina, Maximiliano M Portal

{"title":"The role of non-genetic information in evolutionary frameworks.","authors":"Katherine L Moran, Yelyzaveta Shlyakhtina, Maximiliano M Portal","doi":"10.1080/10409238.2021.1908949","DOIUrl":"https://doi.org/10.1080/10409238.2021.1908949","url":null,"abstract":"The evolution of organisms has been a subject of paramount debate for hundreds of years and though major advances in the field have been made, the precise mechanisms underlying evolutionary processes remain fragmentary. Strikingly, the majority of the core principles accepted across the many fields of biology only consider genetic information as the major - if not exclusive - biological information carrier and thus consider it as the main evolutionary avatar. However, the real picture appears far more complex than originally anticipated, as compelling data suggest that nongenetic information steps up when highly dynamic evolutionary frameworks are explored. In light of recent evidence, we discuss herein the dynamic nature and complexity of nongenetic information carriers, and their emerging relevance in the evolutionary process. We argue that it is possible to overcome the historical arguments which dismissed these carriers, and instead consider that they are indeed core to life itself as they support a sustainable, continuous source of rapid adaptation in ever-changing environments. Ultimately, we will address the intricacies of genetic and non-genetic networks underlying evolutionary models to build a framework where both core biological information concepts are considered non-negligible and equally fundamental.","PeriodicalId":10794,"journal":{"name":"Critical Reviews in Biochemistry and Molecular Biology","volume":"56 3","pages":"255-283"},"PeriodicalIF":6.5,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/10409238.2021.1908949","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38966321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

SMART approaches for genome-wide analyses of skeletal muscle stem and niche cells. 骨骼肌干细胞和生态位细胞全基因组分析的SMART方法。

IF 6.5 2区生物学

Critical Reviews in Biochemistry and Molecular Biology Pub Date : 2021-06-01 Epub Date: 2021-04-07 DOI: 10.1080/10409238.2021.1908950

Darren M Blackburn, Felicia Lazure, Vahab D Soleimani

{"title":"SMART approaches for genome-wide analyses of skeletal muscle stem and niche cells.","authors":"Darren M Blackburn, Felicia Lazure, Vahab D Soleimani","doi":"10.1080/10409238.2021.1908950","DOIUrl":"https://doi.org/10.1080/10409238.2021.1908950","url":null,"abstract":"Muscle stem cells (MuSCs) also called satellite cells are the building blocks of skeletal muscle, the largest tissue in the human body which is formed primarily of myofibers. While MuSCs are the principal cells that directly contribute to the formation of the muscle fibers, their ability to do so depends on critical interactions with a vast array of nonmyogenic cells within their niche environment. Therefore, understanding the nature of communication between MuSCs and their niche is of key importance to understand how the skeletal muscle is maintained and regenerated after injury. MuSCs are rare and therefore difficult to study in vivo within the context of their niche environment. The advent of single-cell technologies, such as switching mechanism at 5' end of the RNA template (SMART) and tagmentation based technologies using hyperactive transposase, afford the unprecedented opportunity to perform whole transcriptome and epigenome studies on rare cells within their niche environment. In this review, we will delve into how single-cell technologies can be applied to the study of MuSCs and muscle-resident niche cells and the impact this can have on our understanding of MuSC biology and skeletal muscle regeneration.","PeriodicalId":10794,"journal":{"name":"Critical Reviews in Biochemistry and Molecular Biology","volume":"56 3","pages":"284-300"},"PeriodicalIF":6.5,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/10409238.2021.1908950","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25566635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0