A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene-Reference-Cited by-同舟云学术

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A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene

Published:2010-08 Issue:4 Volume:100 Page:339-344
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Fukao Toshiyuki,Horikawa Reiko,Naiki Yasuhiro,Tanaka Toju,Takayanagi Masaki,Yamaguchi Seiji,Kondo Naomi

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference39 articles.

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

2. Chapter 102, Inborn errors of ketone body metabolism;Mitchell,2001

3. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (b-ketothiolase deficiency) in 26 enzymatically proved and mutation defined patients;Fukao;Mol. Genet. Metab.,2001

4. Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene;Kano;Gene,1991

5. Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A thiolase gene to 11q22.3–q23.1 by fluorescence in situ hybridization;Masuno;Cytogenet. Cell Genet.,1992

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1. Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report;World Journal of Clinical Cases;2021-10-26

2. A short sequence within AluSx induces downstream exon skipping in an ACAT1 minigene model;All Life;2021-01-01

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

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

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

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