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Article

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

Journal of inherited metabolic disease - 1 Feb 2006

Donarum Elizabeth A, Stephan Dietrich A, Larkin Kay, Murphy Eric J, Gupta Maneesh, Senephansiri Henry, Switzer Robert C, Pearl Phillip L, Snead O Carter, Jakobs C, Gibson K Michael

Abstract excerpt

Succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare genetic defect of GABA degradation recently modelled in mice (SSADH(-/-) mice), manifests early absence seizures that evolve into generalized convulsive seizures and lethal status epilepticus in gene-ablated mice. Disrupted GABA homeostasis, in conjunction with the epileptic phenotype and increased gamma-hydroxybutyric acid (GHB), suggested that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16601881
DOI: 10.1007/s10545-006-0247-6

Genes

MBP
MAG
MOBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency.PMID 16601881Read ↗

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