Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Henry Senephansiri"'
Autor:
Markus Grompe, Henry Senephansiri, Cornelis Jakobs, Maneesh Gupta, Erwin E.W. Jansen, O. Carter Snead, K. Michael Gibson
Publikováno v:
Molecular Therapy. 9(4):527-539
Murine succinate semialdehyde dehydrogenase (SSADH) deficiency (OMIM 271980; EC 1.2.1.24), a model of the corresponding human disorder, displays 100% mortality at weeks 3-4 of life, associated with lethal tonic-clonic seizures. The biochemical hallma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d68af959de188308803cfdc7c98d4a54
Autor:
W. S. Guerand, Markus Grompe, T. Burlingame, Cornelis Jakobs, Henry Senephansiri, D. S. M. Schor, Teodoro Bottiglieri, Maneesh Gupta, Boris M. Hogema, K. M. Gibson, O. C. Snead, Wolfgang Froestl, H. Bartels
Publikováno v:
Journal of Neurochemistry. 81:71-79
Metabolite profiling in succinate semialdehyde dehydrogenase (SSADH; Aldh5a1–/–) deficient mice previously revealed elevated γ-hydroxybutyrate (GHB) and total GABA in urine and total brain and liver extracts. In this study, we extend our metabol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43c9b9319f5a95d3b66c02f7d88af0b7
https://doi.org/10.1046/j.1471-4159.2002.00784.x
https://doi.org/10.1046/j.1471-4159.2002.00784.x
Autor:
Eric J. Murphy, Henry Senephansiri, Maneesh Gupta, Robert C. Switzer, K. Michael Gibson, O. Carter Snead, Phillip L. Pearl, C.A.J.M. Jakobs, Kay Larkin, Elizabeth A. Donarum, Dietrich A. Stephan
Publikováno v:
Journal of inherited metabolic disease. 29(1)
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 epilept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd3a21f1d9fefa0d6b5beba77f9e4c4
https://pubmed.ncbi.nlm.nih.gov/16601881
https://pubmed.ncbi.nlm.nih.gov/16601881
Autor:
Maneesh Gupta, Cornelis Jakobs, K. M. Gibson, O. C. Snead, Erwin E.W. Jansen, Henry Senephansiri, M. Polinsky
Publikováno v:
Neurobiology of Disease, Vol 16, Iss 3, Pp 556-562 (2004)
Mice with targeted deletion of the GABA catabolic enzyme succinic semialdehyde dehydrogenase (SSADH) manifest lethal tonic–clonic seizures, amenable to pharmacologic rescue, at 3–4 weeks of life. In the current report, we characterized amino acid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80513cedc91b758b1a130e67498c9ea2
https://pubmed.ncbi.nlm.nih.gov/15262267
https://pubmed.ncbi.nlm.nih.gov/15262267
Autor:
Melissa Taylor, Markus Grompe, Wolfgang Froestl, Maneesh Gupta, Cornelis Jakobs, Boris M. Hogema, Ramon Diaz-Arrastia, Teodoro Bottiglieri, O. Carter Snead, T. Burlingame, Henry Senephansiri, K. Michael Gibson, Ruud B.H. Schutgens
Publikováno v:
Nature genetics. 29(2)
Succinate semialdehyde dehydrogenase (ALDH5A1, encoding SSADH deficiency is a defect of 4-aminobutyric acid (GABA) degradation that manifests in humans as 4-hydroxybutyric (gamma-hydroxybutyric, GHB) aciduria. It is characterized by a non-specific ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::710f116d52c167be77b0a0613f0a833d
https://pubmed.ncbi.nlm.nih.gov/11544478
https://pubmed.ncbi.nlm.nih.gov/11544478
Autor:
C. Mattes, Henry Senephansiri, Michael P. Whyte, K. M. Gibson, Robert D. Steiner, J. Hanks, E. Chang
Publikováno v:
Journal of inherited metabolic disease. 23(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56942ca567750fb9fc36441357a2c0f2
https://pubmed.ncbi.nlm.nih.gov/10682314
https://pubmed.ncbi.nlm.nih.gov/10682314