Detalhe da pesquisa
1.
A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
PLoS Genet
; 16(12): e1009258, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33315951
2.
Elevated COUP-TFII expression in dopaminergic neurons accelerates the progression of Parkinson's disease through mitochondrial dysfunction.
PLoS Genet
; 16(6): e1008868, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32579581
3.
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
Am J Hum Genet
; 105(6): 1237-1253, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31785787
4.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Am J Hum Genet
; 99(4): 831-845, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27640307
5.
Correction: the retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration.
PLoS Biol
; 13(5): e1002170, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26020534
6.
A voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis.
PLoS Biol
; 13(3): e1002103, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25811491
7.
The retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration.
PLoS Biol
; 12(4): e1001847, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24781186
8.
Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells.
PLoS Biol
; 10(12): e1001438, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23226104
9.
Drosophila neuroligin 2 is required presynaptically and postsynaptically for proper synaptic differentiation and synaptic transmission.
J Neurosci
; 32(45): 16018-30, 2012 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23136438
10.
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Genome Med
; 13(1): 55, 2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33845882
11.
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
Neuron
; 106(4): 589-606.e6, 2020 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32169171
12.
cindr, the Drosophila Homolog of the CD2AP Alzheimer's Disease Risk Gene, Is Required for Synaptic Transmission and Proteostasis.
Cell Rep
; 28(7): 1799-1813.e5, 2019 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31412248
13.
Pancreatic Cell Fate Determination Relies on Notch Ligand Trafficking by NFIA.
Cell Rep
; 25(13): 3811-3827.e7, 2018 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30590051
14.
Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.
Dev Cell
; 45(2): 226-244.e8, 2018 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29689197
15.
The Krebs Cycle Enzyme Isocitrate Dehydrogenase 3A Couples Mitochondrial Metabolism to Synaptic Transmission.
Cell Rep
; 21(13): 3794-3806, 2017 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29281828
16.
WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes.
Dev Cell
; 36(2): 139-51, 2016 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26812014
17.
Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.
Elife
; 52016 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27343351
18.
Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production.
Elife
; 32014 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25313867
19.
A TRPV channel in Drosophila motor neurons regulates presynaptic resting Ca2+ levels, synapse growth, and synaptic transmission.
Neuron
; 84(4): 764-77, 2014 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25451193