Detalhe da pesquisa
1.
GLRA2 gene mutations cause high myopia in humans and mice.
J Med Genet;
60(2): 193-203, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35396272
2.
LRRK2 mediates axon development by regulating Frizzled3 phosphorylation and growth cone-growth cone communication.
Proc Natl Acad Sci U S A;
117(30): 18037-18048, 2020 07 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32641508
3.
PINK1 phosphorylates Drp1S616 to regulate mitophagy-independent mitochondrial dynamics.
EMBO Rep;
21(8): e48686, 2020 08 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32484300
4.
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
Genet Med;
21(12): 2744-2754, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31273342
5.
BNIP3 Protein Suppresses PINK1 Kinase Proteolytic Cleavage to Promote Mitophagy.
J Biol Chem;
291(41): 21616-21629, 2016 Oct 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27528605
6.
A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.
BMC Med Genet;
18(1): 2, 2017 Jan 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28061824
7.
Exome sequencing-aided precise diagnosis of four families with type I Stickler syndrome.
Mol Genet Genomic Med;
12(1): e2331, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38073514
8.
PINK1-mediated Drp1S616 phosphorylation modulates synaptic development and plasticity via promoting mitochondrial fission.
Signal Transduct Target Ther;
7(1): 103, 2022 04 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35422062
9.
Planar cell polarity signaling components are a direct target of ß-amyloid-associated degeneration of glutamatergic synapses.
Sci Adv;
7(34)2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34407949
10.
ATP13A2 facilitates HDAC6 recruitment to lysosome to promote autophagosome-lysosome fusion.
J Cell Biol;
218(1): 267-284, 2019 01 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30538141