khalaf.ali

Khalaf Ali Fayez Abuamra

استاذ - أستاذ متفرغ

كلية العلوم

العنوان: قسم النبات والميكروبيولوجى -كلية العلوم -جامعة سوهاج

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  • المقررات الدراسية 1
  • ملحقات المقررات الدراسية 0
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  • المنشورات و المؤلفات 12
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المنشورات و المؤلفات التي تحتوي علي الكلمة المفتاحية: mitochondrial acetoacetyl‑CoA

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency

2018-11-08 09:04:28 الكلمات المفتاحية Beta-ketothiolase deficiency, mitochondrial acetoacetyl‑CoA, T2 deficiency, ACAT1, Recent advances,
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency (OMIM #203750, *607809) is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism. This disorder is clinically characterized by intermittent ketoacidotic crises under ketogenic stresses. In addition to a previous 26-case series, four series of T2-deficient patients were recently reported from different regions. In these series, most T2-deficient patients developed ... إقراء المزيد

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 الكلمات المفتاحية 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 ... إقراء المزيد

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