Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity.

Amino Acid Metabolism, Inborn Errors / drug therapy Animals Developmental Disabilities / drug therapy Disease Models, Animal Enzyme Replacement Therapy / methods Mice Mice, Inbred C57BL Succinate-Semialdehyde Dehydrogenase / deficiency gamma-Aminobutyric Acid / drug effects
epilepsy genetics inborn errors of metabolism metabolism mitochondrial disorder neurodevelopment seizures status epilepticus treatment

Journal

Journal of child neurology
ISSN: 1708-8283
Titre abrégé: J Child Neurol
Pays: United States
ID NLM: 8606714

Informations de publication

Date de publication:
11 2021
Historique:
pubmed: 25 2 2021
medline: 15 3 2022
entrez: 24 2 2021
Statut: ppublish

Résumé

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inborn metabolic disorder caused by the functional impairment of SSADH (encoded by the

Identifiants

DOI: 10.1177/0883073821993000 PMID: 33624531 PMC: PMC8382780
pubmed: 33624531
doi: 10.1177/0883073821993000
pmc: PMC8382780
mid: NIHMS1664876
doi:

Substances chimiques

gamma-Aminobutyric Acid 56-12-2
Succinate-Semialdehyde Dehydrogenase EC 1.2.1.24

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1200-1209

Subventions

Organisme : NICHD NIH HHS
ID : U54 HD090255
Pays : United States

Références

Cells. 2020 Feb 19;9(2):
pubmed: 32093054
Nat Rev Neurosci. 2005 Nov;6(11):877-88
pubmed: 16261181
Neurosci Lett. 2018 Feb 5;665:182-188
pubmed: 29175632
Nat Rev Neurosci. 2008 May;9(5):331-43
pubmed: 18382465
Diseases. 2018 May 21;6(2):
pubmed: 29883422
Ann Transl Med. 2019 Jul;7(13):285
pubmed: 31392197
Mol Psychiatry. 2017 May;22(5):680-688
pubmed: 28194008
Brain Dev. 2016 Oct;38(9):871-4
pubmed: 27056292
Cell. 2001 May 18;105(4):521-32
pubmed: 11371348
Cell. 1999 Sep 17;98(6):739-55
pubmed: 10499792
Nat Genet. 2001 Oct;29(2):212-6
pubmed: 11544478
Brain Dev. 2011 Oct;33(9):796-805
pubmed: 21664777
Proc Natl Acad Sci U S A. 2017 Feb 14;114(7):E1234-E1242
pubmed: 28137879
Science. 2015 Mar 6;347(6226):1138-42
pubmed: 25700174
Mol Genet Metab. 2002 Aug;76(4):348-62
pubmed: 12208142
Mol Ther. 2004 Apr;9(4):527-39
pubmed: 15093183
Neurochem Int. 2016 Oct;99:72-84
pubmed: 27311541
Nat Biotechnol. 2020 Aug;38(8):910
pubmed: 32760031
Mol Cell Biol. 2018 Feb 27;38(6):
pubmed: 29378828
Nucleic Acids Res. 1997 Feb 15;25(4):888-96
pubmed: 9016643
Genome Biol. 2017 May 17;18(1):92
pubmed: 28511701
Proc Natl Acad Sci U S A. 2020 Sep 22;117(38):23242-23251
pubmed: 32503914
Gene Ther. 2011 Feb;18(2):117-27
pubmed: 20962871
Neuron. 2013 Feb 6;77(3):388-405
pubmed: 23395369
J Pediatr Epilepsy. 2014 Nov 25;3(4):217-227
pubmed: 25485164
Neurology. 2009 Aug 11;73(6):423-9
pubmed: 19667317
Neurology. 2015 Sep 8;85(10):861-5
pubmed: 26268900
J Inherit Metab Dis. 2009 Jun;32(3):343-52
pubmed: 19172412
Neuron. 2011 Sep 22;71(6):995-1013
pubmed: 21943598
PLoS Genet. 2008 May 09;4(5):e1000069
pubmed: 18464897
Nat Biotechnol. 2016 Feb;34(2):204-9
pubmed: 26829320
Cereb Cortex. 2017 Dec 1;27(12):5509-5524
pubmed: 27909008
Cell. 2016 Jan 14;164(1-2):219-232
pubmed: 26771493
Hippocampus. 2010 Jan;20(1):208-17
pubmed: 19405137
Ital J Pediatr. 2018 Nov 16;44(Suppl 2):120
pubmed: 30442189
Ann Neurol. 2003;54 Suppl 6:S66-72
pubmed: 12891656
Sci Rep. 2019 Mar 11;9(1):4159
pubmed: 30858401
Front Syst Neurosci. 2013 Dec 03;7:102
pubmed: 24348349
J Inherit Metab Dis. 2013 May;36(3):401-10
pubmed: 22739941
Mol Ther. 2018 Mar 7;26(3):664-668
pubmed: 29428298
Mol Ther. 2020 Mar 4;28(3):709-722
pubmed: 31968213
Curr Opin Neurobiol. 2020 Aug;63:67-76
pubmed: 32344323
Nat Neurosci. 2012 Jan 15;15(3):414-22, S1-2
pubmed: 22246436
J Inherit Metab Dis. 2018 Jul;41(4):699-708
pubmed: 29460030
J Inherit Metab Dis. 2016 Nov;39(6):795-800
pubmed: 27686230
Dev Med Child Neurol. 2015 Jul;57(7):611-617
pubmed: 25558043
Clin Chim Acta. 1983 Sep 15;133(1):33-42
pubmed: 6627675
Nature. 1999 Jan 21;397(6716):251-5
pubmed: 9930699
Nat Neurosci. 2011 Jun;14(6):736-43
pubmed: 21532577
Neurology. 2014 Mar 18;82(11):940-4
pubmed: 24523482
BioDrugs. 2017 Aug;31(4):317-334
pubmed: 28669112
Clin Chim Acta. 1981 Apr 9;111(2-3):169-78
pubmed: 7226548
Mol Ther. 2000 Nov;2(5):446-57
pubmed: 11082318
Hum Mutat. 2003 Dec;22(6):442-50
pubmed: 14635103
BMC Biotechnol. 2010 Nov 24;10:81
pubmed: 21106052
Mol Ther. 2019 May 8;27(5):912-921
pubmed: 30819613
PLoS One. 2019 Nov 14;14(11):e0225206
pubmed: 31725765
Neuron. 2011 May 12;70(3):385-409
pubmed: 21555068
J Neurosci. 2012 Jul 4;32(27):9429-37
pubmed: 22764251

Auteurs

Henry Hing Cheong Lee (HHC)

FM Kirby Neurobiology Center, 1862Boston Children's Hospital, Boston, MA, USA.
ORCID: 0000-0003-4975-7330

Phillip L Pearl (PL)

Department of Neurology, 1862Boston Children's Hospital, Boston, MA, USA.
ORCID: 0000-0002-6373-1068

Alexander Rotenberg (A)

FM Kirby Neurobiology Center, 1862Boston Children's Hospital, Boston, MA, USA.
Department of Neurology, 1862Boston Children's Hospital, Boston, MA, USA.

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Aminoacidopathies congénitales › Enzyme Replacement Therapy for Succinic...
questionsmedicales.fr › Eucaryotes › Animaux › Enzyme Replacement Therapy for Succinic...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Incapacités de développement › Enzyme Replacement Therapy for Succinic...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Enzyme Replacement Therapy for Succinic...
questionsmedicales.fr › Thérapeutique › Traitement médicamenteux › Thérapie enzymatique › Thérapie enzymatique substitutive › Enzyme Replacement Therapy for Succinic...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Enzyme Replacement Therapy for Succinic...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Lignées consanguines de souris › Souris de lignée C57BL › Enzyme Replacement Therapy for Succinic...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Oxidoreductases acting on aldehyde or oxo group donors › Aldehyde oxidoreductases › Succinate-semialdehyde dehydrogenase › Enzyme Replacement Therapy for Succinic...
questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › Amino-butyrates › Acide gamma-amino-butyrique › Enzyme Replacement Therapy for Succinic...