Detalhe da pesquisa
1.
Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
Hum Mol Genet
; 29(22): 3589-3605, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372681
2.
Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease.
Hum Mol Genet
; 30(24): 2441-2455, 2021 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34274972
3.
VRK1 phosphorylates and protects NBS1 from ubiquitination and proteasomal degradation in response to DNA damage.
Biochim Biophys Acta
; 1863(4): 760-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26869104
4.
The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-ß precursor protein-dependent mechanism.
J Neurosci
; 35(3): 936-42, 2015 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25609612
5.
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
Biol Open
; 12(4)2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36912213
6.
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
Front Neurosci
; 16: 784880, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35177962
7.
VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.
Sci Rep
; 9(1): 13381, 2019 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527692
8.
Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1.
Exp Neurol
; 320: 113004, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31271761
9.
VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle.
Sci Rep
; 5: 10543, 2015 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26068304