Role of iPSCs in Disease Modeling: Gaucher Disease and Related Disorders

2017 ◽  
pp. 161-176
Author(s):  
Daniel K. Borger ◽  
Elma Aflaki ◽  
Ellen Sidransky
Keyword(s):  
Gaucher Disease ◽  
Disease Modeling

8 Role of iPSCs in Disease Modeling: Gaucher Disease and Related Disorders

2017 ◽  
pp. 161-176
Author(s):  
Daniel K. Borger ◽  
Elma Aflaki ◽  
Ellen Sidransky
Keyword(s):  
Gaucher Disease ◽  
Disease Modeling

The role of stem cells in cystic fibrosis disease modeling and drug discovery

2018 ◽  
Vol 6 (12) ◽  
pp. 707-717
Author(s):  
Massimo Conese ◽  
Elisa Beccia ◽  
Annalucia Carbone ◽  
Stefano Castellani ◽  
Sante Di Gioia ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Stem Cells ◽  
Drug Discovery ◽  
Disease Modeling

scholarly journals The Association between E326K of GBA and the Risk of Parkinson’s Disease

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Yongpan Huang ◽  
Langmei Deng ◽  
Yanjun Zhong ◽  
Minhan Yi
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Statistical Analysis ◽  
Subgroup Analysis ◽  
Gaucher Disease ◽  
Data Extraction ◽  
Meta Analysis ◽  
Minor Allele ◽  
Gba Mutations

It is reported that both the homozygous and heterozygous states of GBA mutations which are the causes of Gaucher disease (GD) are linked to the risk of PD. However, the GBA variant p.E326K (c.1093G > A, rs2230288), which does not result in GD in homozygous carriers, has triggered debate among experts studying Parkinson's disease (PD). In order to determine if the E326K variant of GBA is associated with the risk of PD, a standard meta-analysis was conducted by searching and screening publications, data extraction, and statistical analysis. Finally, a total of 15 publications, containing 5,908 PD patients and 5,605 controls, were included in this analysis. The pooled OR of the E326K genotype analysis was 1.99 (95% CI: 1.57–2.51). The minor allele frequencies of E326K for PD patients and controls were 1.67% and 1.03%, respectively. The pooled OR for the minor allele A was 1.99 (95% CI: 1.58–2.50). According to the subgroup analysis, we found that the significant differences between PD patients and controls for both genotype and allele of E326K also exist in Asians and Caucasians, respectively. In this study, we found that E326K of GBA is associated with the risk of PD in total populations, Asians, and Caucasians, respectively. Further studies are needed to clarify the role of GBA in the pathogenesis of PD.

The Role of Neurogenetics in Gaucher Disease

1993 ◽  
Vol 50 (11) ◽  
pp. 1212-1224 ◽  
Author(s):  
R. O. Brady ◽  
N. W. Barton ◽  
G. A. Grabowski
Keyword(s):  
Gaucher Disease

Delineating the role of myeloid cells and brain microglia in Gaucher disease

2020 ◽  
Vol 129 (2) ◽  
pp. S31
Author(s):  
Venkata Boddupalli ◽  
Shiny Nair ◽  
Glenn Belinsky ◽  
Sameet Mehta ◽  
Pramod Mistry
Keyword(s):  
Gaucher Disease ◽  
Myeloid Cells

Harnessing targeted DNA methylation and demethylation using dCas9

2019 ◽  
Vol 63 (6) ◽  
pp. 813-825 ◽  
Author(s):  
Christian Pflueger ◽  
Tessa Swain ◽  
Ryan Lister
Keyword(s):  
Dna Methylation ◽  
Disease Modeling ◽  
Aberrant Methylation ◽  
Dna Modification ◽  
Future Directions ◽  
Disease States ◽  
Genome Regulation ◽  
Fundamental Understanding ◽  
Functional Relevance

Abstract DNA methylation is an essential DNA modification that plays a crucial role in genome regulation during differentiation and development, and is disrupted in a range of disease states. The recent development of CRISPR/catalytically dead CRISPR/Cas9 (dCas9)-based targeted DNA methylation editing tools has enabled new insights into the roles and functional relevance of this modification, including its importance at regulatory regions and the role of aberrant methylation in various diseases. However, while these tools are advancing our ability to understand and manipulate this regulatory layer of the genome, they still possess a variety of limitations in efficacy, implementation, and targeting specificity. Effective targeted DNA methylation editing will continue to advance our fundamental understanding of the role of this modification in different genomic and cellular contexts, and further improvements may enable more accurate disease modeling and possible future treatments. In this review, we discuss strategies, considerations, and future directions for targeted DNA methylation editing.

Nanomaterials for bioprinting: functionalization of tissue-specific bioinks

2021 ◽  
Author(s):  
Andrea S. Theus ◽  
Liqun Ning ◽  
Linqi Jin ◽  
Ryan K. Roeder ◽  
Jianyi Zhang ◽  
...  
Keyword(s):  
Drug Delivery ◽  
Tissue Engineering ◽  
Regenerative Medicine ◽  
Biomedical Applications ◽  
Disease Modeling ◽  
Three Dimensional ◽  
3D Bioprinting ◽  
Significant Step ◽  
Printing Processes

Abstract Three-dimensional (3D) bioprinting is rapidly evolving, offering great potential for manufacturing functional tissue analogs for use in diverse biomedical applications, including regenerative medicine, drug delivery, and disease modeling. Biomaterials used as bioinks in printing processes must meet strict physiochemical and biomechanical requirements to ensure adequate printing fidelity, while closely mimicking the characteristics of the native tissue. To achieve this goal, nanomaterials are increasingly being investigated as a robust tool to functionalize bioink materials. In this review, we discuss the growing role of different nano-biomaterials in engineering functional bioinks for a variety of tissue engineering applications. The development and commercialization of these nanomaterial solutions for 3D bioprinting would be a significant step towards clinical translation of biofabrication.

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