[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Lymphocyte;
DOI=10.1086/301964; PubMed=9683595 [NCBI, ExPASy, EBI, Israel, Japan]
Chambliss K.L.,
Hinson D.D.,
Trettel F.,
Malaspina P.,
Novelletto A.,
Jakobs C.,
Gibson K.M.;
"Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).";
Am. J. Hum. Genet. 63:399-408(1998).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02055; PubMed=14574404 [NCBI, ExPASy, EBI, Israel, Japan]
Mungall A.J.,
Palmer S.A.,
Sims S.K.,
Edwards C.A.,
Ashurst J.L.,
Wilming L.,
Jones M.C.,
Horton R.,
Hunt S.E.,
Scott C.E.,
Gilbert J.G.R.,
Clamp M.E.,
Bethel G.,
Milne S.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Andrews T.D.,
Ashwell R.I.S., ![]()
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Banerjee R.,
Barker D.J.,
Barlow K.F.,
Bates K.,
Beare D.M.,
Beasley H.,
Beasley O.,
Bird C.P.,
Blakey S.E.,
Bray-Allen S.,
Brook J.,
Brown A.J.,
Brown J.Y.,
Burford D.C.,
Burrill W.,
Burton J.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Clark S.Y.,
Clark G.,
Clee C.M.,
Clegg S.,
Cobley V.,
Collier R.E.,
Collins J.E.,
Colman L.K.,
Corby N.R.,
Coville G.J.,
Culley K.M.,
Dhami P.,
Davies J.,
Dunn M.,
Earthrowl M.E.,
Ellington A.E.,
Evans K.A.,
Faulkner L.,
Francis M.D.,
Frankish A.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Ghori M.J.,
Gilby L.M.,
Gillson C.J.,
Glithero R.J.,
Grafham D.V.,
Grant M.,
Gribble S.,
Griffiths C.,
Griffiths M.N.D.,
Hall R.,
Halls K.S.,
Hammond S.,
Harley J.L.,
Hart E.A.,
Heath P.D.,
Heathcott R.,
Holmes S.J.,
Howden P.J.,
Howe K.L.,
Howell G.R.,
Huckle E.,
Humphray S.J.,
Humphries M.D.,
Hunt A.R.,
Johnson C.M.,
Joy A.A.,
Kay M.,
Keenan S.J.,
Kimberley A.M.,
King A.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leongamornlert D.A.,
Leversha M.,
Lloyd C.R.,
Lloyd D.M.,
Loveland J.E.,
Lovell J.,
Martin S.,
Mashreghi-Mohammadi M.,
Maslen G.L.,
Matthews L.,
McCann O.T.,
McLaren S.J.,
McLay K.,
McMurray A.,
Moore M.J.F.,
Mullikin J.C.,
Niblett D.,
Nickerson T.,
Novik K.L.,
Oliver K.,
Overton-Larty E.K.,
Parker A.,
Patel R.,
Pearce A.V.,
Peck A.I.,
Phillimore B.J.C.T.,
Phillips S.,
Plumb R.W.,
Porter K.M.,
Ramsey Y.,
Ranby S.A.,
Rice C.M.,
Ross M.T.,
Searle S.M.,
Sehra H.K.,
Sheridan E.,
Skuce C.D.,
Smith S.,
Smith M.,
Spraggon L.,
Squares S.L.,
Steward C.A.,
Sycamore N.,
Tamlyn-Hall G.,
Tester J.,
Theaker A.J.,
Thomas D.W.,
Thorpe A.,
Tracey A.,
Tromans A.,
Tubby B.,
Wall M.,
Wallis J.M.,
West A.P.,
White S.S.,
Whitehead S.L.,
Whittaker H.,
Wild A.,
Willey D.J.,
Wilmer T.E.,
Wood J.M.,
Wray P.W.,
Wyatt J.C.,
Young L.,
Younger R.M.,
Bentley D.R.,
Coulson A.,
Durbin R.M.,
Hubbard T.,
Sulston J.E.,
Dunham I.,
Rogers J.,
Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Testis;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] OF 213-535.
TISSUE=Liver;
DOI=10.1074/jbc.270.1.461; PubMed=7814412 [NCBI, ExPASy, EBI, Israel, Japan]
Chambliss K.L.,
Caudle D.L.,
Hinson D.D.,
Moomaw C.R.,
Slaughter C.A.,
Jakobs C.,
Gibson K.M.;
"Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression.";
J. Biol. Chem. 270:461-467(1995).
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[5]
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SUBUNIT.
TISSUE=Brain;
PubMed=9059628 [NCBI, ExPASy, EBI, Israel, Japan]
Trettel F.,
Malaspina P.,
Jodice C.,
Novelletto A.,
Slaughter C.A.,
Caudle D.L.,
Hinson D.D.,
Chambliss K.L.,
Gibson K.M.;
"Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization.";
Adv. Exp. Med. Biol. 414:253-260(1997).
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[6]
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VARIANTS SSADH DEFICIENCY GLU-268 AND ASP-409.
DOI=10.1006/mgme.2000.3145; PubMed=11243727 [NCBI, ExPASy, EBI, Israel, Japan]
Hogema B.M.,
Akaboshi S.,
Taylor M.,
Salomons G.S.,
Jakobs C.,
Schutgens R.B.,
Wilcken B.,
Worthington S.,
Maropoulos G.,
Grompe M.,
Gibson K.M.;
"Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.";
Mol. Genet. Metab. 72:218-222(2001).
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[7]
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VARIANT SSADH DEFICIENCY GLU-487.
DOI=10.1159/000048603; PubMed=11901270 [NCBI, ExPASy, EBI, Israel, Japan]
Aoshima T.,
Kajita M.,
Sekido Y.,
Ishiguro Y.,
Tsuge I.,
Kimura M.,
Yamaguchi S.,
Watanabe K.,
Shimokata K.,
Niwa T.;
"Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T>A of the ALDH5A1 gene.";
Hum. Hered. 53:42-44(2002).
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[8]
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VARIANTS SSADH DEFICIENCY PHE-93; ARG-176; TYR-223; MET-233; SER-255; GLU-268; LYS-335; GLN-382; LEU-382; ASP-409 AND ARG-533, VARIANTS ARG-36; TYR-180; LEU-182; SER-237 AND ILE-406, AND CHARACTERIZATION OF VARIANTS ARG-36; PHE-93; ARG-176; TYR-180; LEU-182; TYR-223; MET-233; SER-237; SER-255; GLU-268; LYS-335; LEU-382; ASP-409 AND ARG-533.
DOI=10.1002/humu.10288; PubMed=14635103 [NCBI, ExPASy, EBI, Israel, Japan]
Akaboshi S.,
Hogema B.M.,
Novelletto A.,
Malaspina P.,
Salomons G.S.,
Maropoulos G.D.,
Jakobs C.,
Grompe M.,
Gibson K.M.;
"Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.";
Hum. Mutat. 22:442-450(2003).
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