journal
MENU ▼
Read by QxMD icon Read
search

Essays in Biochemistry

journal
https://www.readbyqxmd.com/read/30139878/experimental-and-engineering-approaches-to-intracellular-communication
#1
REVIEW
John G Albeck, Michael Pargett, Alexander E Davies
Communication between and within cells is essential for multicellular life. While intracellular signal transduction pathways are often specified in molecular terms, the information content they transmit remains poorly defined. Here, we review research efforts to merge biological experimentation with concepts of communication that emerge from the engineering disciplines of signal processing and control theory. We discuss the challenges of performing experiments that quantitate information transfer at the molecular level, and we highlight recent studies that have advanced toward a clearer definition of the information content carried by signaling molecules...
August 23, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/30139877/a-systems-perspective-of-heterocellular-signaling
#2
REVIEW
Alan Wells, H Steven Wiley
Signal exchange between different cell types is essential for development and function of multicellular organisms, and its dysregulation is causal in many diseases. Unfortunately, most cell-signaling work has employed single cell types grown under conditions unrelated to their native context. Recent technical developments have started to provide the tools needed to follow signaling between multiple cell types, but gaps in the information they provide have limited their usefulness in building realistic models of heterocellular signaling...
August 23, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/30072490/reconstructing-phosphorylation-signalling-networks-from-quantitative-phosphoproteomic-data
#3
REVIEW
Brandon M Invergo, Pedro Beltrao
Cascades of phosphorylation between protein kinases comprise a core mechanism in the integration and propagation of intracellular signals. Although we have accumulated a wealth of knowledge around some such pathways, this is subject to study biases and much remains to be uncovered. Phosphoproteomics, the identification and quantification of phosphorylated proteins on a proteomic scale, provides a high-throughput means of interrogating the state of intracellular phosphorylation, both at the pathway level and at the whole-cell level...
August 2, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/30072489/exploiting-vulnerabilities-in-cancer-signalling-networks-to-combat-targeted-therapy-resistance
#4
REVIEW
Peter T Harrison, Paul H Huang
Drug resistance remains one of the greatest challenges facing precision oncology today. Despite the vast array of resistance mechanisms that cancer cells employ to subvert the effects of targeted therapy, a deep understanding of cancer signalling networks has led to the development of novel strategies to tackle resistance both in the first-line and salvage therapy settings. In this review, we provide a brief overview of the major classes of resistance mechanisms to targeted therapy, including signalling reprogramming and tumour evolution; our discussion also focuses on the use of different forms of polytherapies (such as inhibitor combinations, multi-target kinase inhibitors and HSP90 inhibitors) as a means of combating resistance...
August 2, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/30072488/single-cell-protein-analysis-for-systems-biology
#5
REVIEW
Ezra Levy, Nikolai Slavov
The cellular abundance of proteins can vary even between isogenic single cells. This variability between single-cell protein levels can have regulatory roles, such as controlling cell fate during apoptosis induction or the proliferation/quiescence decision. Here, we review examples connecting protein levels and their dynamics in single cells to cellular functions. Such findings were made possible by the introduction of antibodies, and subsequently fluorescent proteins, for tracking protein levels in single cells...
August 2, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/30030366/neuroimaging-in-mitochondrial-disorders
#6
REVIEW
Mario Mascalchi, Martino Montomoli, Renzo Guerrini
MRI and 1 H magnetic resonance spectroscopy (1 HMRS) are the main neuroimaging methods to study mitochondrial diseases. MRI can demonstrate seven 'elementary' central nervous system (CNS) abnormalities in these disorders, including diffuse cerebellar atrophy, cerebral atrophy, symmetric signal changes in subcortical structures (basal ganglia, brainstem, cerebellum), asymmetric signal changes in the cerebral cortex and subcortical white matter, leukoencephalopathy, and symmetric signal changes in the optic nerve and the spinal cord...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/30030365/clinical-syndromes-associated-with-coenzyme-q-10-deficiency
#7
REVIEW
María Alcázar-Fabra, Eva Trevisson, Gloria Brea-Calvo
Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level. The associated clinical manifestations are highly heterogeneous and mainly affect central and peripheral nervous system, kidney, skeletal muscle and heart. Genotype-phenotype correlations are difficult to establish, mainly because of the reduced number of patients and the large variety of symptoms. In addition, mutations in the same COQ gene can cause different clinical pictures...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/30030364/mitochondrial-dynamics-overview-of-molecular-mechanisms
#8
REVIEW
Lisa Tilokani, Shun Nagashima, Vincent Paupe, Julien Prudent
Mitochondria are highly dynamic organelles undergoing coordinated cycles of fission and fusion, referred as 'mitochondrial dynamics', in order to maintain their shape, distribution and size. Their transient and rapid morphological adaptations are crucial for many cellular processes such as cell cycle, immunity, apoptosis and mitochondrial quality control. Mutations in the core machinery components and defects in mitochondrial dynamics have been associated with numerous human diseases. These dynamic transitions are mainly ensured by large GTPases belonging to the Dynamin family...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/30030363/mitochondrial-transcription-and-translation-overview
#9
REVIEW
Aaron R D'Souza, Michal Minczuk
Mitochondria are the major source of ATP in the cell. Five multi-subunit complexes in the inner membrane of the organelle are involved in the oxidative phosphorylation required for ATP production. Thirteen subunits of these complexes are encoded by the mitochondrial genome often referred to as mtDNA. For this reason, the expression of mtDNA is vital for the assembly and functioning of the oxidative phosphorylation complexes. Defects of the mechanisms regulating mtDNA gene expression have been associated with deficiencies in assembly of these complexes, resulting in mitochondrial diseases...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/30030362/human-diseases-associated-with-defects-in-assembly-of-oxphos-complexes
#10
REVIEW
Daniele Ghezzi, Massimo Zeviani
The structural biogenesis and functional proficiency of the multiheteromeric complexes forming the mitochondrial oxidative phosphorylation system (OXPHOS) require the concerted action of a number of chaperones and other assembly factors, most of which are specific for each complex. Mutations in a large number of these assembly factors are responsible for mitochondrial disorders, in most cases of infantile onset, typically characterized by biochemical defects of single specific complexes. In fact, pathogenic mutations in complex-specific assembly factors outnumber, in many cases, the repertoire of mutations found in structural subunits of specific complexes...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/30030361/assembly-of-mammalian-oxidative-phosphorylation-complexes-i-v-and-supercomplexes
#11
REVIEW
Alba Signes, Erika Fernandez-Vizarra
The assembly of the five oxidative phosphorylation system (OXPHOS) complexes in the inner mitochondrial membrane is an intricate process. The human enzymes comprise core proteins, performing the catalytic activities, and a large number of 'supernumerary' subunits that play essential roles in assembly, regulation and stability. The correct addition of prosthetic groups as well as chaperoning and incorporation of the structural components require a large number of factors, many of which have been found mutated in cases of mitochondrial disease...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/30030360/clinical-syndromes-associated-with-mtdna-mutations-where-we-stand-after-30-years
#12
REVIEW
Valerio Carelli, Chiara La Morgia
The landmark year 1988 can be considered as the birthdate of mitochondrial medicine, when the first pathogenic mutations affecting mtDNA were associated with human diseases. Three decades later, the field still expands and we are not 'scraping the bottom of the barrel' yet. Despite the tremendous progress in terms of molecular characterization and genotype/phenotype correlations, for the vast majority of cases we still lack a deep understanding of the pathogenesis, good models to study, and effective therapeutic options...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29980632/emerging-therapies-for-mitochondrial-diseases
#13
REVIEW
Michio Hirano, Valentina Emmanuele, Catarina M Quinzii
For the vast majority of patients with mitochondrial diseases, only supportive and symptomatic therapies are available. However, in the last decade, due to extraordinary advances in defining the causes and pathomechanisms of these diverse disorders, new therapies are being developed in the laboratory and are entering human clinical trials. In this review, we highlight the current use of dietary supplement and exercise therapies as well as emerging therapies that may be broadly applicable across multiple mitochondrial diseases or tailored for specific disorders...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29980631/biomarkers-for-mitochondrial-energy-metabolism-diseases
#14
REVIEW
Sara Boenzi, Daria Diodato
Biomarkers are an indicator of biologic or pathogenic processes, whose function is indicating the presence/absence of disease or monitoring disease course and its response to treatment. Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority. Given the complexity of MD, in particular the primary mitochondrial respiratory chain (MRC) diseases due to oxidative phosphorylation (OXPHOS) dysfunction, a reliable single biomarker, relevant for the whole disease group, could be extremely difficult to find, most of times leading the physicians to better consider a 'biosignature' for the diagnosis, rather than a single biochemical marker...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29980630/coenzyme-q-10-deficiencies-pathways-in-yeast-and-humans
#15
REVIEW
Agape M Awad, Michelle C Bradley, Lucía Fernández-Del-Río, Anish Nag, Hui S Tsui, Catherine F Clarke
Coenzyme Q (ubiquinone or CoQ) is an essential lipid that plays a role in mitochondrial respiratory electron transport and serves as an important antioxidant. In human and yeast cells, CoQ synthesis derives from aromatic ring precursors and the isoprene biosynthetic pathway. Saccharomyces cerevisiae coq mutants provide a powerful model for our understanding of CoQ biosynthesis. This review focusses on the biosynthesis of CoQ in yeast and the relevance of this model to CoQ biosynthesis in human cells. The COQ1-COQ11 yeast genes are required for efficient biosynthesis of yeast CoQ...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29980629/natural-history-of-mitochondrial-disorders-a-systematic-review
#16
REVIEW
Nandaki Keshavan, Shamima Rahman
The natural history of a disease defines the age of onset, presenting features, clinical phenotype, morbidity and mortality outcomes of disease that is unmodified by treatments. A clear understanding of the natural history of mitochondrial disorders is essential for establishing genotype-phenotype-prognosis correlations. We performed a systematic review of the reported natural history of mitochondrial disease by searching the literature for all published natural history studies containing at least 20 individuals...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29980628/mitochondrial-dna-transcription-and-translation-clinical-syndromes
#17
REVIEW
Veronika Boczonadi, Giulia Ricci, Rita Horvath
Diagnosing primary mitochondrial diseases is challenging in clinical practice. Although, defective oxidative phosphorylation (OXPHOS) is the common final pathway, it is unknown why different mtDNA or nuclear mutations result in largely heterogeneous and often tissue -specific clinical presentations. Mitochondrial tRNA (mt-tRNA) mutations are frequent causes of mitochondrial diseases both in children and adults. However numerous nuclear mutations involved in mitochondrial protein synthesis affecting ubiquitously expressed genes have been reported in association with very tissue specific clinical manifestations suggesting that there are so far unknown factors determining the tissue specificity in mitochondrial translation...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29950321/mitochondrial-dna-replication-clinical-syndromes
#18
REVIEW
Mohammed Almannai, Ayman W El-Hattab, Fernando Scaglia
Each nucleated cell contains several hundreds of mitochondria, which are unique organelles in being under dual genome control. The mitochondria contain their own DNA, the mtDNA, but most of mitochondrial proteins are encoded by nuclear genes, including all the proteins required for replication, transcription, and repair of mtDNA. MtDNA replication is a continuous process that requires coordinated action of several enzymes that are part of the mtDNA replisome. It also requires constant supply of deoxyribonucleotide triphosphates(dNTPs) and interaction with other mitochondria for mixing and unifying the mitochondrial compartment...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29950320/advances-in-methods-for-reducing-mitochondrial-dna-disease-by-replacing-or-manipulating-the-mitochondrial-genome
#19
REVIEW
Pavandeep K Rai, Lyndsey Craven, Kurt Hoogewijs, Oliver M Russell, Robert N Lightowlers
Mitochondrial DNA (mtDNA) is a multi-copy genome whose cell copy number varies depending on tissue type. Mutations in mtDNA can cause a wide spectrum of diseases. Mutated mtDNA is often found as a subset of the total mtDNA population in a cell or tissue, a situation known as heteroplasmy. As mitochondrial dysfunction only presents after a certain level of heteroplasmy has been acquired, ways to artificially reduce or replace the mutated species have been attempted. This review addresses recent approaches and advances in this field, focusing on the prevention of pathogenic mtDNA transfer via mitochondrial donation techniques such as maternal spindle transfer and pronuclear transfer in which mutated mtDNA in the oocyte or fertilized embryo is substituted with normal copies of the mitochondrial genome...
July 20, 2018: Essays in Biochemistry
https://www.readbyqxmd.com/read/29950319/advancing-genomic-approaches-to-the-molecular-diagnosis-of-mitochondrial-disease
#20
REVIEW
Sarah Louise Stenton, Holger Prokisch
Mitochondrial diseases present a diagnostic challenge due to their clinical and genetic heterogeneity. Achieving comprehensive molecular diagnosis via a conventional candidate-gene approach is likely, therefore, to be labour- and cost-intensive given the expanding number of mitochondrial disease genes. The advent of whole exome sequencing (WES) and whole genome sequencing (WGS) hold the potential of higher diagnostic yields due to the universality and unbiased nature of the methods. However, these approaches are subject to the escalating challenge of variant interpretation...
July 20, 2018: Essays in Biochemistry
journal
journal
21298
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"