Jakobs C - Search Results

1

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, Maropoulos GD, Jakobs C, Grompe M, Gibson KM. Akaboshi S, et al. Among authors: jakobs c. Hum Mutat. 2003 Dec;22(6):442-50. doi: 10.1002/humu.10288. Hum Mutat. 2003. PMID: 14635103

2

Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency.

Gupta M, Jansen EE, Senephansiri H, Jakobs C, Snead OC, Grompe M, Gibson KM. Gupta M, et al. Among authors: jakobs c. Mol Ther. 2004 Apr;9(4):527-39. doi: 10.1016/j.ymthe.2004.01.013. Mol Ther. 2004. PMID: 15093183 Free article.

3

Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma-hydroxybutyric aciduria).

Gupta M, Greven R, Jansen EE, Jakobs C, Hogema BM, Froestl W, Snead OC, Bartels H, Grompe M, Gibson KM. Gupta M, et al. Among authors: jakobs c. J Pharmacol Exp Ther. 2002 Jul;302(1):180-7. doi: 10.1124/jpet.302.1.180. J Pharmacol Exp Ther. 2002. PMID: 12065715

4

Murine succinate semialdehyde dehydrogenase deficiency.

Gupta M, Hogema BM, Grompe M, Bottiglieri TG, Concas A, Biggio G, Sogliano C, Rigamonti AE, Pearl PL, Snead OC 3rd, Jakobs C, Gibson KM. Gupta M, et al. Among authors: jakobs c. Ann Neurol. 2003;54 Suppl 6:S81-90. doi: 10.1002/ana.10625. Ann Neurol. 2003. PMID: 12891658 Review.

5

Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development.

Jansen EE, Struys E, Jakobs C, Hager E, Snead OC, Gibson KM. Jansen EE, et al. Among authors: jakobs c. BMC Dev Biol. 2008 Nov 28;8:112. doi: 10.1186/1471-213X-8-112. BMC Dev Biol. 2008. PMID: 19040727 Free PMC article.

6

Neuropathology in succinic semialdehyde dehydrogenase deficiency.

Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, Pearl PL. Knerr I, et al. Among authors: jakobs c. Pediatr Neurol. 2010 Apr;42(4):255-8. doi: 10.1016/j.pediatrneurol.2009.11.011. Pediatr Neurol. 2010. PMID: 20304328 Free PMC article.

7

Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Kim KJ, Pearl PL, Jensen K, Snead OC, Malaspina P, Jakobs C, Gibson KM. Kim KJ, et al. Among authors: jakobs c. Antioxid Redox Signal. 2011 Aug 1;15(3):691-718. doi: 10.1089/ars.2010.3470. Epub 2011 Apr 10. Antioxid Redox Signal. 2011. PMID: 20973619 Free PMC article. Review.

8

Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.

Blasi P, Boyl PP, Ledda M, Novelletto A, Gibson KM, Jakobs C, Hogema B, Akaboshi S, Loreni F, Malaspina P. Blasi P, et al. Among authors: jakobs c. Mol Genet Metab. 2002 Aug;76(4):348-62. doi: 10.1016/s1096-7192(02)00105-1. Mol Genet Metab. 2002. PMID: 12208142

9

Succinic semialdehyde dehydrogenase deficiency in children and adults.

Pearl PL, Novotny EJ, Acosta MT, Jakobs C, Gibson KM. Pearl PL, et al. Among authors: jakobs c. Ann Neurol. 2003;54 Suppl 6:S73-80. doi: 10.1002/ana.10629. Ann Neurol. 2003. PMID: 12891657 Review.

10

Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria).

Gibson KM, Gupta M, Pearl PL, Tuchman M, Vezina LG, Snead OC 3rd, Smit LM, Jakobs C. Gibson KM, et al. Among authors: jakobs c. Biol Psychiatry. 2003 Oct 1;54(7):763-8. doi: 10.1016/s0006-3223(03)00113-6. Biol Psychiatry. 2003. PMID: 14512218

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