Detalhe da pesquisa
1.
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Brain
; 147(5): 1899-1913, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242545
2.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet
; 108(12): 2368-2384, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800363
3.
CRISPR/Cas9-mediated tissue-specific knockout and cDNA rescue using sgRNAs that target exon-intron junctions in Drosophila melanogaster.
STAR Protoc
; 3(3): 101465, 2022 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35719725