1
|
Hori T, Yamaguchi S, Shinkaku H, Horikawa
R, Shigematsu Y, Takayanagi M and Fukao T: Inborn errors of ketone
body utilization. Pediatr Int. 57:41–48. 2015. View Article : Google Scholar : PubMed/NCBI
|
2
|
Fukao T, Mitchell G, Sass JO, Hori T, Orii
K and Aoyama Y: Ketone body metabolism and its defects. J Inherit
Metab Dis. 37:541–551. 2014. View Article : Google Scholar : PubMed/NCBI
|
3
|
Daum RS, Lamm PH, Mamer OA and Scriver CR:
A ‘new’ disorder of isoleucine catabolism. Lancet. 2:1289–1290.
1971. View Article : Google Scholar : PubMed/NCBI
|
4
|
Abdelkreem E, Otsuka H, Sasai H, Aoyama Y,
Hori T, El Aal MA, Mahmoud S and Fukao T: Beta-ketothiolase
deficiency: Resolving challenges in diagnosis. J Inborn Errors
Metab Screen. 4:1–9. 2016. View Article : Google Scholar : PubMed/NCBI
|
5
|
Fukao T, Scriver CR and Kondo N: t2
Collaborative Working Group: The clinical phenotype and outcome of
mitochondrial acetoacetyl-CoA thiolase deficiency
(beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and
mutation-defined patients. Mol Genet Metab. 72:109–114. 2001.
View Article : Google Scholar : PubMed/NCBI
|
6
|
Kano M, Fukao T, Yamaguchi S, Orii T,
Osumi T and Hashimoto T: Structure and expression of the human
mitochondrial acetoacetyl-CoA thiolase-encoding gene. Gene.
109:285–290. 1991. View Article : Google Scholar : PubMed/NCBI
|
7
|
Fukao T, Yamaguchi S, Kano M, Orii T,
Fujiki Y, Osumi T and Hashimoto T: 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.
J Clin Invest. 86:2086–2092. 1990. View Article : Google Scholar : PubMed/NCBI
|
8
|
Fukao T, Horikawa R, Naiki Y, Tanaka T,
Takayanagi M, Yamaguchi S and Kondo N: A novel mutation
(c.951C>T) in an exonic splicing enhancer results in exon 10
skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.
Mol Genet Metab. 100:339–344. 2010. View Article : Google Scholar : PubMed/NCBI
|
9
|
Williamson DH, Bates MW, Page MA and Krebs
HA: Activities of enzymes involved in acetoacetate utilization in
adult mammalian tissues. Biochem J. 121:41–47. 1971. View Article : Google Scholar : PubMed/NCBI
|
10
|
Fukao T, Song XQ, Mitchell GA, Yamaguchi
S, Sukegawa K, Orii T and Kondo N: Enzymes of ketone body
utilization in human tissues: Protein and messenger RNA levels of
succinyl-coenzyme A (CoA): 3-ketoacid CoA transferase and
mitochondrial and cytosolic acetoacetyl-CoA thiolases. Pediatr Res.
42:498–502. 1997. View Article : Google Scholar : PubMed/NCBI
|
11
|
Fukao T, Nakamura H, Song XQ, Nakamura K,
Orii KE, Kohno Y, Kano M, Yamaguchi S, Hashimoto T, Orii T and
Kondo N: Characterization of N93S, I312T, and A333P missense
mutations in two Japanese families with mitochondrial
acetoacetyl-CoA thiolase deficiency. Hum Mutat. 12:245–254. 1998.
View Article : Google Scholar : PubMed/NCBI
|
12
|
Hori T, Fukao T, Murase K, Sakaguchi N,
Harding CO and Kondo N: Molecular basis of two-exon skipping (exons
12 and 13) by c.1248+5g>a in OXCT1 gene: Study on intermediates
of OXCT1 transcripts in fibroblasts. Hum Mutat. 34:473–480. 2013.
View Article : Google Scholar : PubMed/NCBI
|
13
|
Fukao T, Yamaguchi S, Orii T, Schutgens
RB, Osumi T and Hashimoto T: Identification of three mutant alleles
of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A
complete analysis of two generations of a family with
3-ketothiolase deficiency. J Clin Invest. 89:474–479. 1992.
View Article : Google Scholar : PubMed/NCBI
|
14
|
Niwa H, Yamamura K and Miyazaki J:
Efficient selection for high-expression transfectants with a novel
eukaryotic vector. Gene. 108:193–199. 1991. View Article : Google Scholar : PubMed/NCBI
|
15
|
Baralle D and Baralle M: Splicing in
action: Assessing disease causing sequence changes. J Med Genet.
42:737–748. 2005. View Article : Google Scholar : PubMed/NCBI
|
16
|
Fukao T, Yamaguchi S, Orii T, Osumi T and
Hashimoto T: Molecular basis of 3-ketothiolase deficiency:
Identification of an AG to AC substitution at the splice acceptor
site of intron 10 causing exon 11 skipping. Biochim Biophys Acta.
1139:184–188. 1992. View Article : Google Scholar : PubMed/NCBI
|
17
|
Fukao T, Song XQ, Yamaguchi S, Kondo N,
Orii T, Matthieu JM, Bachmann C and Hashimoto T: Identification of
three novel frameshift mutations (83delAT, 754insCT, and 435+1G to
A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two
Swiss patients with CRM-negative beta-ketothiolase deficiency. Hum
Mutat. 9:277–279. 1997. View Article : Google Scholar : PubMed/NCBI
|
18
|
Thümmler S, Dupont D, Acquaviva C, Fukao T
and de Ricaud D: Different clinical presentation in siblings with
mitochondrial acetoacetyl-CoA thiolase deficiency and
identification of two novel mutations. Tohoku J Exp Med. 220:27–31.
2010. View Article : Google Scholar : PubMed/NCBI
|
19
|
Nakamura K, Fukao T, Perez-Cerda C, Luque
C, Song XQ, Naiki Y, Kohno Y, Ugarte M and Kondo N: A novel
single-base substitution (380C>T) that activates a 5-base
downstream cryptic splice-acceptor site within exon 5 in almost all
transcripts in the human mitochondrial acetoacetyl-CoA thiolase
gene. Mol Genet Metab. 72:115–121. 2001. View Article : Google Scholar : PubMed/NCBI
|
20
|
Fukao T, Boneh A, Aoki Y and Kondo N: A
novel single-base substitution (c.1124A>G) that activates a
5-base upstream cryptic splice donor site within exon 11 in the
human mitochondrial acetoacetyl-CoA thiolase gene. Mol Genet Metab.
94:417–421. 2008. View Article : Google Scholar : PubMed/NCBI
|
21
|
Vatanavicharn N, Yamada K, Aoyama Y, Fukao
T, Densupsoontorn N, Jirapinyo P, Sathienkijkanchai A, Yamaguchi S
and Wasant P: Carnitine-acylcarnitine translocase deficiency: Two
neonatal cases with common splicing mutation and in vitro
bezafibrate response. Brain Dev. 37:698–703. 2015. View Article : Google Scholar : PubMed/NCBI
|
22
|
Ogawa A, Yamamoto S, Kanazawa M,
Takayanagi M, Hasegawa S and Kohno Y: Identification of two novel
mutations of the carnitine/acylcarnitine translocase (CACT) gene in
a patient with CACT deficiency. J Hum Genet. 45:52–55. 2000.
View Article : Google Scholar : PubMed/NCBI
|
23
|
Maquat LE: Nonsense-mediated mRNA decay in
mammals. J Cell Sci. 118:1773–1776. 2005. View Article : Google Scholar : PubMed/NCBI
|
24
|
Shapiro MB and Senapathy P: RNA splice
junctions of different classes of eukaryotes: Sequence statistics
and functional implications in gene expression. Nucleic Acids Res.
15:7155–7174. 1987. View Article : Google Scholar : PubMed/NCBI
|
25
|
Desmet FO, Hamroun D, Lalande M,
Collod-Béroud G, Claustres M and Béroud C: Human splicing finder:
An online bioinformatics tool to predict splicing signals. Nucleic
Acids Res. 37:e672009. View Article : Google Scholar : PubMed/NCBI
|
26
|
Jian X, Boerwinkle E and Liu X: In silico
tools for splicing defect prediction: A survey from the viewpoint
of end users. Genet Med. 16:497–503. 2014. View Article : Google Scholar : PubMed/NCBI
|
27
|
Théry JC, Krieger S, Gaildrat P, Révillion
F, Buisine MP, Killian A, Duponchel C, Rousselin A, Vaur D, Peyrat
JP, et al: Contribution of bioinformatics predictions and
functional splicing assays to the interpretation of unclassified
variants of the BRCA genes. Eur J Hum Genet. 19:1052–1058. 2011.
View Article : Google Scholar : PubMed/NCBI
|
28
|
Ben Rhouma F, Azzouz H, Petit FM, Khelifa
MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub
Y, et al: Molecular and biochemical characterization of a novel
intronic single point mutation in a Tunisian family with glycogen
storage disease type III. Mol Biol Rep. 40:4197–4202. 2013.
View Article : Google Scholar : PubMed/NCBI
|
29
|
Nouri N, Fazel-Najafabadi E, Behnam M,
Nouri N, Aryani O, Ghasemi M, Nasiri J and Sedghi M: Use of in
silico tools for classification of novel missense mutations
identified in dystrophin gene in developing countries. Gene.
535:250–254. 2014. View Article : Google Scholar : PubMed/NCBI
|
30
|
Houdayer C, Caux-Moncoutier V, Krieger S,
Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F,
Gaildrat P, et al: Guidelines for splicing analysis in molecular
diagnosis derived from a set of 327 combined in silico/in vitro
studies on BRCA1 and BRCA2 variants. Hum Mutat. 33:1228–1238. 2012.
View Article : Google Scholar : PubMed/NCBI
|