Detalhe da pesquisa
1.
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Brain
; 145(12): 4349-4367, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074904
2.
The Object Space Task reveals increased expression of cumulative memory in a mouse model of Kleefstra syndrome.
Neurobiol Learn Mem
; 173: 107265, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32531423
3.
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.
Nucleic Acids Res
; 46(10): 4950-4965, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29554304
4.
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia.
Genet Med
; 21(8): 1790-1796, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607023
5.
Epigenetic Etiology of Intellectual Disability.
J Neurosci
; 37(45): 10773-10782, 2017 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29118205
6.
Unexpected Heterodivalent Recruitment of NOS1AP to nNOS Reveals Multiple Sites for Pharmacological Intervention in Neuronal Disease Models.
J Neurosci
; 35(19): 7349-64, 2015 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25972165
7.
Bcl-2 binds to and inhibits ryanodine receptors.
J Cell Sci
; 127(Pt 12): 2782-92, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24762814
8.
Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome.
Hum Mol Genet
; 22(5): 852-66, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23175442
9.
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Am J Hum Genet
; 91(1): 73-82, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22726846
10.
The role of chromatin repressive marks in cognition and disease: A focus on the repressive complex GLP/G9a.
Neurobiol Learn Mem
; 124: 88-96, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26143996
11.
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Cell Rep
; 43(3): 113883, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38430517
12.
The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes.
Cell Rep
; 39(8): 110857, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613587
13.
NGN2 induces diverse neuron types from human pluripotency.
Stem Cell Reports
; 16(9): 2118-2127, 2021 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34358451
14.
The continued need for animals to advance brain research.
Neuron
; 109(15): 2374-2379, 2021 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34352213
15.
Characterization of oligophrenin-1, a RhoGAP lost in patients affected with mental retardation: lentiviral injection in organotypic brain slice cultures.
Methods Enzymol
; 439: 255-66, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18374170
16.
Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation.
Sci Rep
; 7: 40284, 2017 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28071689
17.
Up-regulation of inositol 1,4,5-trisphosphate receptor type 1 is responsible for a decreased endoplasmic-reticulum Ca2+ content in presenilin double knock-out cells.
Cell Calcium
; 40(1): 41-51, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16675011
18.
Increased GABAB receptor signaling in a rat model for schizophrenia.
Sci Rep
; 6: 34240, 2016 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27687783
19.
Thimerosal stimulates Ca2+ flux through inositol 1,4,5-trisphosphate receptor type 1, but not type 3, via modulation of an isoform-specific Ca2+-dependent intramolecular interaction.
Biochem J
; 381(Pt 1): 87-96, 2004 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15015936
20.
Connecting the dots in mental illness: The synapse as the intersection of brain function and disease.
Prog Neuropsychopharmacol Biol Psychiatry
; 84(Pt B): 305, 2018 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656774