scholarly journals Epigenetics and human disease: translating basic biology into clinical applications

2006 ◽  
Vol 174 (3) ◽  
pp. 341-348 ◽  
Author(s):  
D. Rodenhiser
Keyword(s):  
Human Disease ◽  
Clinical Applications ◽  
Basic Biology

Epigenetics: From Basic Biology to Chromatin-Modifying Drugs and New Potential Clinical Applications

2016 ◽  
pp. 3-18 ◽  
Author(s):  
Francesco Matrisciano ◽  
Isabella Panaccione ◽  
Erbo Dong ◽  
Dennis R. Grayson ◽  
Alessandro Guidotti
Keyword(s):  
Clinical Applications ◽  
Basic Biology

scholarly journals Cell and animal models of mtDNA biology: progress and prospects

2007 ◽  
Vol 292 (2) ◽  
pp. C658-C669 ◽  
Author(s):  
Shaharyar M. Khan ◽  
Rafal M. Smigrodzki ◽  
Russell H. Swerdlow
Keyword(s):  
Gene Therapy ◽  
Animal Models ◽  
Human Disease ◽  
Mitochondrial Genetics ◽  
Mtdna Mutation ◽  
Mtdna Mutations ◽  
The Past ◽  
The Future ◽  
Basic Biology ◽  
Over Time

The past two decades have witnessed an evolving understanding of the mitochondrial genome’s (mtDNA) role in basic biology and disease. From the recognition that mutations in mtDNA can be responsible for human disease to recent efforts showing that mtDNA mutations accumulate over time and may be responsible for some phenotypes of aging, the field of mitochondrial genetics has greatly benefited from the creation of cell and animal models of mtDNA mutation. In this review, we critically discuss the past two decades of efforts and insights gained from cell and animal models of mtDNA mutation. We attempt to reconcile the varied and at times contradictory findings by highlighting the various methodologies employed and using human mtDNA disease as a guide to better understanding of cell and animal mtDNA models. We end with a discussion of scientific and therapeutic challenges and prospects for the future of mtDNA transfection and gene therapy.

scholarly journals Targeting lysosomes in human disease: from basic research to clinical applications

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Mengdie Cao ◽  
Xiangyuan Luo ◽  
Kongming Wu ◽  
Xingxing He
Keyword(s):  
Cell Proliferation ◽  
Human Disease ◽  
Basic Research ◽  
Clinical Findings ◽  
Clinical Applications ◽  
Biological Functions ◽  
Cell Proliferation And Differentiation ◽  
Proliferation And Differentiation ◽  
Lysosomal Acidification

AbstractIn recent years, accumulating evidence has elucidated the role of lysosomes in dynamically regulating cellular and organismal homeostasis. Lysosomal changes and dysfunction have been correlated with the development of numerous diseases. In this review, we interpreted the key biological functions of lysosomes in four areas: cellular metabolism, cell proliferation and differentiation, immunity, and cell death. More importantly, we actively sought to determine the characteristic changes and dysfunction of lysosomes in cells affected by these diseases, the causes of these changes and dysfunction, and their significance to the development and treatment of human disease. Furthermore, we outlined currently available targeting strategies: (1) targeting lysosomal acidification; (2) targeting lysosomal cathepsins; (3) targeting lysosomal membrane permeability and integrity; (4) targeting lysosomal calcium signaling; (5) targeting mTOR signaling; and (6) emerging potential targeting strategies. Moreover, we systematically summarized the corresponding drugs and their application in clinical trials. By integrating basic research with clinical findings, we discussed the current opportunities and challenges of targeting lysosomes in human disease.

Novel insights in folate receptors and transporters: implications for disease and treatment of immune diseases and cancer

Pteridines ◽  
2015 ◽  
Vol 26 (2) ◽  
pp. 41-53 ◽  
Author(s):  
Gerrit Jansen ◽  
Godefridus J. Peters
Keyword(s):  
Human Disease ◽  
Essential Role ◽  
Enzyme Regulation ◽  
Clinical Applications ◽  
Post Translational Modification ◽  
New Developments ◽  
Folate Receptors ◽  
Multidisciplinary Meeting ◽  
Folate Transporters ◽  
Scientific Interaction

AbstractFolate receptors and transporters as well as folate enzymes play an essential role in human disease and form important targets for the treatment of immune diseases and cancer. To discuss new developments in this area, every 2 years a multidisciplinary meeting is held, which aims to be an informal forum for fundamental scientists and clinicians. During this meeting, the regulation of folate transporters and folate enzymes is discussed at the level of expression, transcription, translation, post-translational modification, and splicing and enzyme regulation. Importantly, this knowledge is applied and translated into exciting clinical applications by clinicians with various backgrounds, such as surgeons, nephrologists, rheumatologists and oncologists. Moreover, the meeting provides an excellent forum for a scientific interaction between academia and industry.

Sign in / Sign up

Export Citation Format

Share Document