GALNS gene expression profiling in Morquio A patients' fibroblasts.

TLDR: The development of a real-time RT-PCR assay allows to absolutely quantify the GALNS mRNAs carrying mutations that lead to PTCs bearing transcripts, which escape the NMD process and are potentially suitable for the new therapeutic approach.

About: This article is published in Clinica Chimica Acta.The article was published on 2008-11-01 and is currently open access. It has received 7 citations till now. The article focuses on the topics: Stop codon.

Figures

Table 1 Clinical, biochemical and molecular data of MPS IV A patients

Table 2 Primers for PCR amplification of GALNS gene

Table 4 Score calculation of canonical and cryptic splice sites by the http://www.fruitfly.org/

Table 3 Number of GALNS copies detected in MPS IVA patients and control samples

Fig. 1. A. RT-PCR analysis of MPS IVA patients. The PCR products, run on 2% agarose gel, were obtained after total RNA retrotranscription with random hexamers and two subsequent amplifications with the following primers:

Fig. 2. Real-time standard curve. Amplification plot showing the standard curve of plasmid vector pCXN-GALNS, generated by seven tenfold serial dilution from a starting quantity of 11×106 plasmid copies, and controls, Pt1 and Pt2 samples.

Frequently asked questions

Q1. What are the contributions mentioned in the paper "Galns gene expression profiling in morquio a patients' fibroblasts" ?

In this paper, the authors report characterisation of GALNS genemutations andmRNA stability verifying a genotype/phenotype correlation in two MPS IVA patients with a severe form.