Exploiting the interactions of PNA–DNA films with Ni2+ ions: Detection of nucleobase mismatches and electrochemical genotyping of the single-nucleotide mismatch in apoE 4 related to Alzheimer's disease

2011 ◽  
Vol 27 (1) ◽  
pp. 187-191 ◽  
Author(s):  
Kaijuan Guo ◽  
Xiaohong Li ◽  
Heinz-Bernhard Kraatz
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide ◽  
Nucleotide Mismatch ◽  
Single Nucleotide Mismatch ◽  
Dna Films

scholarly journals Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease

Genes ◽  
2019 ◽  
Vol 10 (6) ◽  
pp. 452 ◽  
Author(s):  
Alejandro Garanto ◽  
Lonneke Duijkers ◽  
Tomasz Z. Tomkiewicz ◽  
Rob W. J. Collin
Keyword(s):  
Pluripotent Stem Cells ◽  
Antisense Oligonucleotides ◽  
Autosomal Recessive ◽  
Stargardt Disease ◽  
Single Nucleotide ◽  
Significant Correction ◽  
Nucleotide Mismatch ◽  
Single Nucleotide Mismatch ◽  
Splicing Defects ◽  
Induced Pluripotent

Deep-sequencing of the ABCA4 locus has revealed that ~10% of autosomal recessive Stargardt disease (STGD1) cases are caused by deep-intronic mutations. One of the most recurrent deep-intronic variants in the Belgian and Dutch STGD1 population is the c.4539+2001G>A mutation. This variant introduces a 345-nt pseudoexon to the ABCA4 mRNA transcript in a retina-specific manner. Antisense oligonucleotides (AONs) are short sequences of RNA that can modulate splicing. In this work, we designed 26 different AONs to perform a thorough screening to identify the most effective AONs to correct splicing defects associated with c.4539+2001G>A. All AONs were tested in patient-derived induced pluripotent stem cells (iPSCs) that were differentiated to photoreceptor precursor cells (PPCs). AON efficacy was assessed through RNA analysis and was based on correction efficacy, and AONs were grouped and their properties assessed. We (a) identified nine AONs with significant correction efficacies (>50%), (b) confirmed that a single nucleotide mismatch was sufficient to significantly decrease AON efficacy, and (c) found potential correlations between efficacy and some of the parameters analyzed. Overall, our results show that AON-based splicing modulation holds great potential for treating Stargardt disease caused by splicing defects in ABCA4.

scholarly journals Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Serena Bucossi ◽  
Stefania Mariani ◽  
Mariacarla Ventriglia ◽  
Renato Polimanti ◽  
Massimo Gennarelli ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphism ◽  
Logistic Regression ◽  
Atp7b Gene ◽  
Regression Analyses ◽  
Susceptibility Loci ◽  
Nucleotide Polymorphism ◽  
Sporadic Alzheimer’S Disease ◽  
Single Nucleotide

Nonceruloplasmin-bound copper (“free”) is reported to be elevated in Alzheimer's disease (AD). In Wilson's disease (WD) Cu-ATPase 7B protein tightly controls free copper body levels. To explore whether the ATP7B gene harbours susceptibility loci for AD, we screened 180 AD chromosomes for sequence changes in exons 2, 5, 8, 10, 14, and 16, where most of the Mediterranean WD-causing mutations lie. No WD mutation, but sequence changes corresponding to c.1216 T>G Single-Nucleotide Polymorphism (SNP) and c.2495 A>G SNP were found. Thereafter, we genotyped 190 AD patients and 164 controls for these SNPs frequencies estimation. Logistic regression analyses revealed either a trend for the c.1216 SNP (P=.074) or a higher frequency for c.2495 SNP of the GG genotype in patients, increasing the probability of AD by 74% (P=.028). Presence of the GG genotype in ATP7B c.2495 could account for copper dysfunction in AD which has been shown to raise the probability of the disease.

Single Nucleotide Polymorphism Associated with Late-onset Alzheimer’s Disease

2005 ◽  
Vol 5 (4) ◽  
pp. 275-279 ◽  
Author(s):  
Abdulaziz Ali A. Al-Khedhai ◽  
Misbahul Arfin . ◽  
Bassam A. Alahmadi . ◽  
Mohamed A. Al-Jumah .
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphism ◽  
Late Onset ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

scholarly journals The presence of a single-nucleotide mismatch in linker increases the fluorescence of guanine-enhanced DNA-templated Ag nanoclusters and their application for highly sensitive detection of cyanide

RSC Advances ◽  
2018 ◽  
Vol 8 (72) ◽  
pp. 41464-41471 ◽  
Author(s):  
Jun Peng ◽  
Jian Ling ◽  
Qiu-Lin Wen ◽  
Yu Li ◽  
Qiu-E. Cao ◽  
...  
Keyword(s):  
Sensitive Detection ◽  
Single Nucleotide ◽  
Single Base ◽  
Highly Sensitive ◽  
Nucleotide Mismatch ◽  
Single Nucleotide Mismatch ◽  
Ag Nanoclusters ◽  
Ag Ncs ◽  
Highly Sensitive Detection

Single-base mismatched G-rich enhanced DNA-Ag NCs for cyanide detection.

IL-1β, IL-6, IL-10, and TNFα Single Nucleotide Polymorphisms in Human Influence the Susceptibility to Alzheimer’s Disease Pathology

2020 ◽  
Vol 75 (3) ◽  
pp. 1029-1047 ◽  
Author(s):  
Mirjana Babić Leko ◽  
Matea Nikolac Perković ◽  
Nataša Klepac ◽  
Dubravka Švob Štrac ◽  
Fran Borovečki ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Human Influence ◽  
Single Nucleotide
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