Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in theACAT1gene-Reference-Cited by-同舟云学术

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Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in theACAT1gene

Published:2017-02-08 Issue:2 Volume:5 Page:177-184
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Sasai Hideo¹^ORCID,Aoyama Yuka¹²,Otsuka Hiroki¹,Abdelkreem Elsayed¹³,Nakama Mina⁴,Hori Tomohiro¹,Ohnishi Hidenori¹,Turner Lesley⁵,Fukao Toshiyuki¹⁴

Affiliation:

1. Department of Pediatrics; Graduate School of Medicine; Gifu University; Gifu Japan

2. Department of Biomedical Sciences; College of Life and Health Sciences; Chubu University; Kasugai Japan

3. Department of Pediatrics; Faculty of Medicine; Sohag University; Sohag Egypt

4. Division of Clinical Genetics; Gifu University Hospital; Gifu Japan

5. Discipline of Genetics; Memorial University of Newfoundland; St John's NF Canada

Funder

Ministry of Education, Culture, Sports, Science and Technology

Ministry of Health, Labour and Welfare

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Reference26 articles.

1. Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III;Ben Rhouma;Mol. Biol. Rep.,2013

2. Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5;Carboni;Muscle Nerve,2011

3. A “new” disorder of isoleucine catabolism;Daum;Lancet,1971

4. Human Splicing Finder: an online bioinformatics tool to predict splicing signals;Desmet;Nucleic Acids Res.,2009

5. Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency;Fukao;J. Clin. Invest.,1990

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency;Human Mutation;2019-07-03

2. Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency;Journal of Human Genetics;2018-11-05

3. Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population;BioMed Research International;2018-10-18

4. Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons;Gene;2018-07

5. SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report;BMC Medical Genetics;2018-06-18

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