Detalhe da pesquisa
1.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Ann Neurol
; 92(1): 122-137, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35411967
2.
LRRK2 impairs PINK1/Parkin-dependent mitophagy via its kinase activity: pathologic insights into Parkinson's disease.
Hum Mol Genet
; 28(10): 1645-1660, 2019 05 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30629163
3.
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Ann Neurol
; 88(4): 843-850, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33045815
4.
Autophagy in neurodegeneration: New insights underpinning therapy for neurological diseases.
J Neurochem
; 154(4): 354-371, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32149395
5.
Phosphoproteomic screening identifies Rab GTPases as novel downstream targets of PINK1.
EMBO J
; 34(22): 2840-61, 2015 Nov 12.
Artigo
Inglês
| MEDLINE | ID: mdl-26471730
6.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Am J Hum Genet
; 98(3): 500-513, 2016 Mar 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26942284
7.
Parkin deficiency modulates NLRP3 inflammasome activation by attenuating an A20-dependent negative feedback loop.
Glia
; 66(8): 1736-1751, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29665074
8.
What genetics tells us about the causes and mechanisms of Parkinson's disease.
Physiol Rev
; 91(4): 1161-218, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22013209
9.
The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.
Hum Mol Genet
; 25(14): 2972-2984, 2016 07 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27206984
10.
Probes of ubiquitin E3 ligases enable systematic dissection of parkin activation.
Nat Chem Biol
; 12(5): 324-31, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26928937
11.
De novo tetrahydrobiopterin biosynthesis is impaired in the inflammed striatum of parkin(-/-) mice.
Cell Biol Int
; 42(6): 725-733, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29624777
12.
Functional interplay between Parkin and Drp1 in mitochondrial fission and clearance.
Biochim Biophys Acta
; 1843(9): 2012-26, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24878071
13.
ER-stress-associated functional link between Parkin and DJ-1 via a transcriptional cascade involving the tumor suppressor p53 and the spliced X-box binding protein XBP-1.
J Cell Sci
; 126(Pt 9): 2124-33, 2013 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23447676
14.
The endoplasmic reticulum/mitochondria interface: a subcellular platform for the orchestration of the functions of the PINK1-Parkin pathway?
Biochem Soc Trans
; 43(2): 297-301, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25849933
15.
Genotype-phenotype correlation in PRKN-associated Parkinson's disease.
NPJ Parkinsons Dis
; 10(1): 72, 2024 Mar 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38553467
16.
Parkin depletion delays motor decline dose-dependently without overtly affecting neuropathology in α-synuclein transgenic mice.
BMC Neurosci
; 14: 135, 2013 Nov 05.
Artigo
Inglês
| MEDLINE | ID: mdl-24192137
17.
Developmental transcriptional control of mitochondrial homeostasis is required for activity-dependent synaptic connectivity.
bioRxiv
; 2023 Jun 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37333418
18.
Does the Expression and Epigenetics of Genes Involved in Monogenic Forms of Parkinson's Disease Influence Sporadic Forms?
Genes (Basel)
; 13(3)2022 03 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35328033
19.
Modelling α-Synuclein Aggregation and Neurodegeneration with Fibril Seeds in Primary Cultures of Mouse Dopaminergic Neurons.
Cells
; 11(10)2022 05 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35626675
20.
Modeling native and seeded Synuclein aggregation and related cellular dysfunctions in dopaminergic neurons derived by a new set of isogenic iPSC lines with SNCA multiplications.
Cell Death Dis
; 13(10): 881, 2022 10 19.
Artigo
Inglês
| MEDLINE | ID: mdl-36261424