Detalhe da pesquisa
1.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 142(1): 108363, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452608
2.
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 476-493, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581234
3.
N-acetylcysteine treatment mitigates loss of cortical parvalbumin-positive interneuron and perineuronal net integrity resulting from persistent oxidative stress in a rat TBI model.
Cereb Cortex
; 33(7): 4070-4084, 2023 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130098
4.
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Hum Genet
; 142(12): 1755-1776, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962671
5.
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Epilepsia
; 64(6): 1516-1526, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36961285
6.
Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency.
J Sleep Res
; : e14105, 2023 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38148273
7.
Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine.
Int J Mol Sci
; 23(5)2022 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35269750
8.
Ceftriaxone Treatment Preserves Cortical Inhibitory Interneuron Function via Transient Salvage of GLT-1 in a Rat Traumatic Brain Injury Model.
Cereb Cortex
; 29(11): 4506-4518, 2019 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30590449
9.
KCC2 activity is critical in limiting the onset and severity of status epilepticus.
Proc Natl Acad Sci U S A
; 112(11): 3523-8, 2015 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25733865
10.
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
J Neurodev Disord
; 16(1): 21, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38658850
11.
Otx2 binding to perineuronal nets persistently regulates plasticity in the mature visual cortex.
J Neurosci
; 32(27): 9429-37, 2012 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22764251
12.
New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies.
Neurology
; 101(3): 124-133, 2023 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36878704
13.
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.
Res Sq
; 2023 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503297
14.
Tyrosine phosphorylation regulates the membrane trafficking of the potassium chloride co-transporter KCC2.
Mol Cell Neurosci
; 45(2): 173-9, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20600929
15.
Choroid-plexus-derived Otx2 homeoprotein constrains adult cortical plasticity.
Cell Rep
; 3(6): 1815-23, 2013 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23770240
16.
Hyperpolarizing GABAergic transmission depends on KCC2 function and membrane potential.
Channels (Austin)
; 5(6): 475-81, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22082832
17.
NMDA receptor activity downregulates KCC2 resulting in depolarizing GABAA receptor-mediated currents.
Nat Neurosci
; 14(6): 736-43, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21532577
18.
Identification of the sites for CaMK-II-dependent phosphorylation of GABA(A) receptors.
J Biol Chem
; 282(24): 17855-65, 2007 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17442679
19.
Direct protein kinase C-dependent phosphorylation regulates the cell surface stability and activity of the potassium chloride cotransporter KCC2.
J Biol Chem
; 282(41): 29777-84, 2007 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-17693402
20.
Transcriptional regulation of acetylcholinesterase-associated collagen ColQ: differential expression in fast and slow twitch muscle fibers is driven by distinct promoters.
J Biol Chem
; 279(26): 27098-107, 2004 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-15102835