Jakobs C - Search Results

1

Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.

Malaspina P, Picklo MJ, Jakobs C, Snead OC, Gibson KM. Malaspina P, et al. Among authors: jakobs c. Hum Genomics. 2009 Jan;3(2):106-20. doi: 10.1186/1479-7364-3-2-106. Hum Genomics. 2009. PMID: 19164088 Free PMC article. Review.

2

Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

Chambliss KL, Hinson DD, Trettel F, Malaspina P, Novelletto A, Jakobs C, Gibson KM. Chambliss KL, et al. Among authors: jakobs c. Am J Hum Genet. 1998 Aug;63(2):399-408. doi: 10.1086/301964. Am J Hum Genet. 1998. PMID: 9683595 Free PMC article.

3

Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase.

Gibson KM, Schor DS, Gupta M, Guerand WS, Senephansiri H, Burlingame TG, Bartels H, Hogema BM, Bottiglieri T, Froestl W, Snead OC, Grompe M, Jakobs C. Gibson KM, et al. Among authors: jakobs c. J Neurochem. 2002 Apr;81(1):71-9. doi: 10.1046/j.1471-4159.2002.00784.x. J Neurochem. 2002. PMID: 12067239 Free article.

4

Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency.

Gupta M, Polinsky M, Senephansiri H, Snead OC, Jansen EE, Jakobs C, Gibson KM. Gupta M, et al. Among authors: jakobs c. Neurobiol Dis. 2004 Aug;16(3):556-62. doi: 10.1016/j.nbd.2004.04.008. Neurobiol Dis. 2004. PMID: 15262267

5

Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype.

Gibson KM, Jakobs C, Pearl PL, Snead OC. Gibson KM, et al. Among authors: jakobs c. IUBMB Life. 2005 Sep;57(9):639-44. doi: 10.1080/15216540500264588. IUBMB Life. 2005. PMID: 16203683 Free article. Review.

6

Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency.

Donarum EA, Stephan DA, Larkin K, Murphy EJ, Gupta M, Senephansiri H, Switzer RC, Pearl PL, Snead OC, Jakobs C, Gibson KM. Donarum EA, et al. Among authors: jakobs c. J Inherit Metab Dis. 2006 Feb;29(1):143-56. doi: 10.1007/s10545-006-0247-6. J Inherit Metab Dis. 2006. PMID: 16601881

7

Lipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterations.

Barcelo-Coblijn G, Murphy EJ, Mills K, Winchester B, Jakobs C, Snead OC 3rd, Gibson KM. Barcelo-Coblijn G, et al. Among authors: jakobs c. Biochim Biophys Acta. 2007 May;1772(5):556-62. doi: 10.1016/j.bbadis.2006.12.008. Epub 2007 Jan 4. Biochim Biophys Acta. 2007. PMID: 17300923 Free PMC article.

Stephan, K. Larkin, E.J. Murphy, M. Gupta, H. Senephansiri, R.C. Switzer, P.L. Pearl, O.C. Snead, C. Jakobs, K.M. Gibson, Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency, J. ...

Stephan, K. Larkin, E.J. Murphy, M. Gupta, H. Senephansiri, R.C. Switzer, P.L. Pearl, O.C. Snead, C. Jakobs, K.M …

8

Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.

Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM. Knerr I, et al. Among authors: jakobs c. J Inherit Metab Dis. 2007 Jun;30(3):279-94. doi: 10.1007/s10545-007-0574-2. Epub 2007 Apr 24. J Inherit Metab Dis. 2007. PMID: 17457693

9

Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice).

Sauer SW, Kölker S, Hoffmann GF, Ten Brink HJ, Jakobs C, Gibson KM, Okun JG. Sauer SW, et al. Among authors: jakobs c. Neurochem Int. 2007 Mar;50(4):653-9. doi: 10.1016/j.neuint.2006.12.009. Epub 2007 Jan 13. Neurochem Int. 2007. PMID: 17303287

10

4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.

Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C. Gibson KM, et al. Among authors: jakobs c. Neuropediatrics. 1998 Feb;29(1):14-22. doi: 10.1055/s-2007-973527. Neuropediatrics. 1998. PMID: 9553943 Review.

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