d.elsayedmohammed

Elsayed Abdelkreem

Lecturer - Lecturer of Pediatrics

Faculty of medicine

Address: AlShikh-Shibl Village, AlMaragha City, Sohag

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Publications Which contain the keyword: splice acceptor site

A novel mutation (c.121 13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene

2018-09-16 14:20:15 Keywords exon skipping, aberrant splicing, polypyrimidine tract, splice acceptor site, T2 deficiency, mitochondrial acetoacetyl‑CoA,
A novel mutation (c.121 13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene
Mitochondrial acetoacetyl-CoA thiolase (T2) (gene symbol: ACAT1) deficiency is an autosomal recessive disorder affecting isoleucine catabolism and ketone body utilization. In this study, mutational analysis of an Indian T2-deficient patient revealed a homozygous mutation (c.121‑13T>A) located at the polypyrimidine tract of the splice acceptor site of intron 2, and exon 3 skipping was identified by cDNA analysis using cycloheximide. We ... Read more

A single nucleotide substitution T to A in the poly-pyrimidine stretch at splice acceptor site of intron 9 causes exon 10 skipping in ACAT1 gene

2018-09-16 14:26:50 Keywords ACAT1, exon skipping, mitochondrial acetoacetyl-CoA, polypyrimidine stretch, splice acceptor site, T2 deficiency,
A single nucleotide substitution T to A in the poly-pyrimidine stretch at splice acceptor site of intron 9 causes exon 10 skipping in ACAT1 gene
BACKGROUND β‐ketothiolase (T2, gene symbol _ACAT1_) deficiency is an autosomal recessive disorder, affecting isoleucine and ketone body metabolism. We encountered a patient (GK03) with T2 deficiency whose T2 mRNA level was A in the polypyrimidine stretch at the splice acceptor site of intron 9 of _ACAT1_. Initially, we regarded this variant as not being disease‐causing by a method of predicting ... Read more

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