scholarly journals Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis

2020 ◽  
Vol 21 (11) ◽  
pp. 3760 ◽  
Author(s):  
Deborah Chiabrando ◽  
Francesca Bertino ◽  
Emanuela Tolosano
Keyword(s):  
Retinitis Pigmentosa ◽  
Recent Progress ◽  
Cell Metabolism ◽  
Molecular Pathogenesis ◽  
Genome Integrity ◽  
Cellular Respiration ◽  
Biological Processes ◽  
Hereditary Ataxia ◽  
Sideroblastic Anemia ◽  
Heme Metabolism

Heme and Fe-S clusters regulate a plethora of essential biological processes ranging from cellular respiration and cell metabolism to the maintenance of genome integrity. Mutations in genes involved in heme metabolism and Fe-S cluster biogenesis cause different forms of ataxia, like posterior column ataxia and retinitis pigmentosa (PCARP), Friedreich’s ataxia (FRDA) and X-linked sideroblastic anemia with ataxia (XLSA/A). Despite great efforts in the elucidation of the molecular pathogenesis of these disorders several important questions still remain to be addressed. Starting with an overview of the biology of heme metabolism and Fe-S cluster biogenesis, the review discusses recent progress in the understanding of the molecular pathogenesis of PCARP, FRDA and XLSA/A, and highlights future line of research in the field. A better comprehension of the mechanisms leading to the degeneration of neural circuity responsible for balance and coordinated movement will be crucial for the therapeutic management of these patients.

Red Onions, Elodea, or Decalcified Chicken Eggs? Selecting & Sequencing Representations for Teaching Diffusion & Osmosis

2012 ◽  
Vol 74 (6) ◽  
pp. 392-399 ◽  
Author(s):  
Deanna Lankford ◽  
Patricia Friedrichsen
Keyword(s):  
Molecular Level ◽  
Microscopic Level ◽  
Experienced Teachers ◽  
Cellular Respiration ◽  
Biological Processes ◽  
Cell Level ◽  
Macroscopic Level ◽  
Pros And Cons ◽  
Biological Concepts ◽  
Chicken Eggs

Diffusion and osmosis are important biological concepts that students often struggle to understand. These are important concepts because they are the basis for many complex biological processes, such as photosynthesis and cellular respiration. We examine a wide variety of representations used by experienced teachers to teach diffusion and osmosis. To help teachers select appropriate representations for their students, we briefly describe each representation and discuss its pros and cons. After teachers select representations, we offer recommendations for sequencing them. We recommend beginning with macroscopic-level representations that easily allow students to visualize the phenomenon, then moving to microscopic-level representations (cell-level), and finally exploring the phenomenon at the molecular level using virtual representations.

scholarly journals Roles of Rack1 Proteins in Fungal Pathogenesis

2016 ◽  
Vol 2016 ◽  
pp. 1-8 ◽  
Author(s):  
Xue Zhang ◽  
Rashmi Jain ◽  
Guotian Li
Keyword(s):  
Fungal Pathogens ◽  
Recent Progress ◽  
Pathogenic Fungi ◽  
Life Cycles ◽  
Scaffolding Protein ◽  
Fungal Pathogenesis ◽  
Biological Processes ◽  
Infection Processes

Pathogenic fungi cause diseases on various organisms. Despite their differences in life cycles, fungal pathogens use well-conserved proteins and pathways to regulate developmental and infection processes. In this review, we focus on Rack1, a multifaceted scaffolding protein involved in various biological processes. Rack1 is well conserved in eukaryotes and plays important roles in fungi, though limited studies have been conducted. To accelerate the study of Rack1 proteins in fungi, we review the functions of Rack1 proteins in model and pathogenic fungi and summarize recent progress on how Rack1 proteins are involved in fungal pathogenesis.

scholarly journals Nucleosome–nucleosome interactions via histone tails and linker DNA regulate nuclear rigidity

2017 ◽  
Vol 28 (11) ◽  
pp. 1580-1589 ◽  
Author(s):  
Yuta Shimamoto ◽  
Sachiko Tamura ◽  
Hiroshi Masumoto ◽  
Kazuhiro Maeshima
Keyword(s):  
Molecular Mechanisms ◽  
Mechanical Response ◽  
Nuclear Architecture ◽  
Living Cells ◽  
Genome Integrity ◽  
Biological Processes ◽  
Cell Nuclei ◽  
Histone Tails ◽  
Insight Into

Cells, as well as the nuclei inside them, experience significant mechanical stress in diverse biological processes, including contraction, migration, and adhesion. The structural stability of nuclei must therefore be maintained in order to protect genome integrity. Despite extensive knowledge on nuclear architecture and components, however, the underlying physical and molecular mechanisms remain largely unknown. We address this by subjecting isolated human cell nuclei to microneedle-based quantitative micromanipulation with a series of biochemical perturbations of the chromatin. We find that the mechanical rigidity of nuclei depends on the continuity of the nucleosomal fiber and interactions between nucleosomes. Disrupting these chromatin features by varying cation concentration, acetylating histone tails, or digesting linker DNA results in loss of nuclear rigidity. In contrast, the levels of key chromatin assembly factors, including cohesin, condensin II, and CTCF, and a major nuclear envelope protein, lamin, are unaffected. Together with in situ evidence using living cells and a simple mechanical model, our findings reveal a chromatin-based regulation of the nuclear mechanical response and provide insight into the significance of local and global chromatin structures, such as those associated with interdigitated or melted nucleosomal fibers.

scholarly journals Mutational signatures of complex genomic rearrangements in human cancer

2021 ◽  
Author(s):  
Lixing Yang ◽  
Lisui Bao ◽  
Xiaoming Zhong ◽  
Yang Yang
Keyword(s):  
Human Cancer ◽  
Genomic Rearrangements ◽  
Cellular Structures ◽  
Genome Integrity ◽  
Biological Processes ◽  
Extrachromosomal Dna ◽  
Mutational Signatures ◽  
Chromatin Bridge ◽  
Open Questions ◽  
Dna Loss

Complex genomic rearrangements (CGRs) are common in cancer and are known to form via two aberrant cellular structures-micronuclei and chromatin bridge. However, which mechanism is more relevant to CGR formation in cancer cells and whether there are other undiscovered mechanisms remain open questions. Here, we analyze 2,014 CGRs from 2,428 whole-genome sequenced tumors and deconvolute six CGR signatures based on the topology of CGRs. Through rigorous benchmarking, we show that our CGR signatures are highly accurate and biologically meaningful. Three signatures can be attributed to known biological processes-micronuclei- and chromatin-bridge-induced chromothripsis and extrachromosomal DNA. More than half of the CGRs belong to the remaining three newly discovered signatures. A unique signature (we named "hourglass chromothripsis") with highly localized breakpoints and small amount of DNA loss is abundant in prostate cancer. Through genetic association analysis, we find SPOP as a candidate gene causing hourglass chromothripsis and playing important role in maintaining genome integrity. Our study offers valuable insights into the formation of CGRs.

scholarly journals Diseases Associated with Defects in tRNA CCA Addition

2020 ◽  
Vol 21 (11) ◽  
pp. 3780 ◽  
Author(s):  
Angelo Slade ◽  
Ribal Kattini ◽  
Chloe Campbell ◽  
Martin Holcik
Keyword(s):  
Retinitis Pigmentosa ◽  
B Cell ◽  
Developmental Delay ◽  
Cellular Systems ◽  
Loss Of Function ◽  
Partial Loss ◽  
Sideroblastic Anemia ◽  
Current State ◽  
Nucleotidyl Transferase ◽  
Essential Enzyme

tRNA nucleotidyl transferase 1 (TRNT1) is an essential enzyme catalyzing the addition of terminal cytosine-cytosine-adenosine (CCA) trinucleotides to all mature tRNAs, which is necessary for aminoacylation. It was recently discovered that partial loss-of-function mutations in TRNT1 are associated with various, seemingly unrelated human diseases including sideroblastic anemia with B-cell immunodeficiency, periodic fevers and developmental delay (SIFD), retinitis pigmentosa with erythrocyte microcytosis, and progressive B-cell immunodeficiency. In addition, even within the same disease, the severity and range of the symptoms vary greatly, suggesting a broad, pleiotropic impact of imparting TRNT1 function on diverse cellular systems. Here, we describe the current state of knowledge of the TRNT1 function and the phenotypes associated with mutations in TRNT1.

Recent Progress on the Discovery of Sirt2 Inhibitors for the Treatment of Various Cancers

2019 ◽  
Vol 19 (12) ◽  
pp. 1051-1058 ◽  
Author(s):  
Ting Wang ◽  
Zhuyu Xu ◽  
Yongping Lu ◽  
Jianyou Shi ◽  
Wenbo Liu ◽  
...  
Keyword(s):  
Cell Cycle ◽  
Biological Activity ◽  
Inflammatory Response ◽  
Cell Cycle Regulation ◽  
Recent Progress ◽  
Biological Processes ◽  
Target Structure ◽  
Action Mechanism ◽  
Dependent Protein ◽  
Cycle Regulation

Sirtuins family is a class of NDA+ dependent protein deacetylases that play a key role in the regulation of several aspects of biological processes, such as cell cycle regulation, autophagy, immune and inflammatory response. Many studies have shown that sirtuins2 as a key player in the cancer pathway is of great significance in tumorigenesis. This review summarizes the newly discovered, in recent years, some SIRT2 inhibitors for cancer target structure, action mechanism, biological activity, substrate specificity, and signaling pathways.

scholarly journals Functional reassembly of membrane proteins in planar lipid bilayers

1981 ◽  
Vol 14 (1) ◽  
pp. 1-79 ◽  
Author(s):  
M. Montal ◽  
A. Darszon ◽  
H. Schindler
Keyword(s):  
Membrane Proteins ◽  
Lipid Bilayers ◽  
Recent Progress ◽  
Molecular Mechanisms ◽  
Biochemical Characterization ◽  
Structural Information ◽  
Energy Transduction ◽  
Biological Processes ◽  
Membrane Biology ◽  
Technical Advances

Recent progress in membrane biology has brought us to a stage where it is possible to associate complex biological processes to identifiable membrane proteins. Technical advances in the biochemical characterization and purification of membrane proteins have contributed a wealth of structural information. The reconstitution approach has proved to be valuable in our efforts to understand the molecular mechanisms of membrane transport and energy transduction.

scholarly journals Assessing Students' Ability to Trace Matter in Dynamic Systems in Cell Biology

2006 ◽  
Vol 5 (4) ◽  
pp. 323-331 ◽  
Author(s):  
Christopher D. Wilson ◽  
Charles W. Anderson ◽  
Merle Heidemann ◽  
John E. Merrill ◽  
Brett W. Merritt ◽  
...  
Keyword(s):  
Dynamic Systems ◽  
Cell Biology ◽  
Instructional Strategy ◽  
Cellular Respiration ◽  
Diagnostic Tools ◽  
Biological Processes ◽  
College Level ◽  
Multiple Choice Questions ◽  
Complex Processes ◽  
Learning To Reason

College-level biology courses contain many complex processes that are often taught and learned as detailed narratives. These processes can be better understood by perceiving them as dynamic systems that are governed by common fundamental principles. Conservation of matter is such a principle, and thus tracing matter is an essential step in learning to reason about biological processes. We present here multiple-choice questions that measure students' ability and inclination to trace matter through photosynthesis and cellular respiration. Data associated with each question come from students in a large undergraduate biology course that was undergoing a shift in instructional strategy toward making fundamental principles (such as tracing matter) a central theme. We also present findings from interviews with students in the course. Our data indicate that 1) many students are not using tracing matter as a tool to reason about biological processes, 2) students have particular difficulties tracing matter between systems and have a persistent tendency to interconvert matter and energy, and 3) instructional changes seem to be effective in promoting application of the tracing matter principle. Using these items as diagnostic tools allows instructors to be proactive in addressing students' misconceptions and ineffective reasoning.

scholarly journals Mapping cancer cell metabolism with13C flux analysis: Recent progress and future challenges

2013 ◽  
Vol 12 (1) ◽  
pp. 13 ◽  
Author(s):  
JameyDale Young ◽  
CaseyScott Duckwall ◽  
TaylorAthanasaw Murphy
Keyword(s):  
Cancer Cell ◽  
Recent Progress ◽  
Cell Metabolism ◽  
Flux Analysis ◽  
Future Challenges ◽  
Cancer Cell Metabolism

scholarly journals PRDM12 in Health and Diseases

2021 ◽  
Vol 22 (21) ◽  
pp. 12030
Author(s):  
Monica Rienzo ◽  
Erika Di Zazzo ◽  
Amelia Casamassimi ◽  
Patrizia Gazzerro ◽  
Giovanni Perini ◽  
...  
Keyword(s):  
Pain Perception ◽  
Cell Metabolism ◽  
Biological Processes ◽  
Normal Tissues ◽  
Binding Factor ◽  
Yin And Yang ◽  
Cancer Types ◽  
Spatio Temporal ◽  
Neuronal Systems ◽  
Domain I

PRDM12 is a member of the PRDI-BF1 (positive regulatory domain I-binding factor 1) homologous domain (PRDM)-containing protein family, a subfamily of Kruppel-like zinc finger proteins, controlling key processes in the development of cancer. PRDM12 is expressed in a spatio-temporal manner in neuronal systems where it exerts multiple functions. PRDM12 is essential for the neurogenesis initiation and activation of a cascade of downstream pro-neuronal transcription factors in the nociceptive lineage. PRDM12 inactivation, indeed, results in a complete absence of the nociceptive lineage, which is essential for pain perception. Additionally, PRDM12 contributes to the early establishment of anorexigenic neuron identity and the maintenance of high expression levels of pro-opiomelanocortin, which impacts on the program bodyweight homeostasis. PRDMs are commonly involved in cancer, where they act as oncogenes/tumor suppressors in a “Yin and Yang” manner. PRDM12 is not usually expressed in adult normal tissues but its expression is re-activated in several cancer types. However, little information is currently available on PRDM12 expression in cancers and its mechanism of action has not been thoroughly described. In this review, we summarize the recent findings regarding PRDM12 by focusing on four main biological processes: neurogenesis, pain perception, oncogenesis and cell metabolism. Moreover, we wish to highlight the importance of future studies focusing on the PRDM12 signaling pathway(s) and its role in cancer onset and progression.

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