青山 友佳 AOYAMA Yuka
引いて調べる先天代謝異常症 日本先天代謝異常学会編集 診断と治療社 2014（共著）
Japanese patients with mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations, Experimental and Therapeutic Medicine, Vol.20, Apr., 2020.
Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting, Journal of Inherited Metabolic Disease, Vol.43, Apr., 2020.
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency, Journal of Human Genetics, Vol.64, Nov., 2018.
Intronic antisense Alu elements have a negative splicing effect on the inclusion of adjacent downstream exons, Gene, Vol.664, Apr., 2018.
Heterozygous carriers of succinyl-CoA: 3-oxoacid CoA transferase deficiency can develop severe ketoacidosis, Journal of Inherited Metabolic Disease, Vol.40, Nov., 2017.
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, Molecular Medicine Reports, Vol.15, Jun., 2017.
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam, Journal of Inherited Metabolic Disease, Vol.40, May., 2017.
Modulation of the sphingolipid rheostat is involved in paclitaxel resistance of the human prostate cancer cell line PC3-PR. Biochemical and Biophysical Research Communications, Vol.486. Mar., 2017.
Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature, The Egyptian Journal of Medical Human Genetics, Vol.18, Jan., 2017.
Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene, Molecular Genetics & Genomic Medicine, Vol.8, Mar., 2017.
Clinical and mutational characterizations of ten Indian patients with beta-ketothiolase deficiency, JIMD reports, DOI: 10.1007/8904_2016_26, Dec., 2016.
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site, Molecular Medicine Reports, Vol.14, Nov., 2016.
Mechanism of paclitaxel resistance in a human prostate cancer cell line, PC3-PR, and its sensitization by cabazitaxel, Biochemical and Biophysical Research Communications, Vol.479, Oct., 2016.
Japanese male siblings with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) without neurological regression, JIMD reports, Vol.32, Jun., 2016.
Beta-ketothiolase deficiency: resolving challenges in diagnosis, Journal of Inborn Errors of Metabolism and Screening, Vol.4, Mar., 2016.
Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, International Journal of Molecular Medicine, Vol.35, Jun., 2015.
Carnitine-acylcarnitine translocase deficiency: two neonatal cases with common splicing mutation and in vitro bezafibrate response, Brain and Development, Vol.37, Aug., 2015.
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation, Journal of Human Genetics, Vol.59, Nov., 2014.
Ketone body metabolism and its defects, Journal of inherited metabolic disease, Vol.37, Jul., 2014.
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India, Brain and Development, Vol.36, Jun., 2014.
Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency, Molecular Genetics and Metabolism, Vol.110, Sep-Oct., 2013.
平成28年度 日本先天代謝異常学会 奨励賞