Detalhe da pesquisa
1.
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.
Proc Natl Acad Sci U S A
; 121(9): e2322582121, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38381787
2.
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
Am J Hum Genet
; 109(4): 571-586, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35240055
3.
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Hum Mol Genet
; 31(19): 3231-3244, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35234901
4.
Variant functional assessment in Drosophila by overexpression: what can we learn?
Genome
; 67(6): 158-167, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412472
5.
TM2D genes regulate Notch signaling and neuronal function in Drosophila.
PLoS Genet
; 17(12): e1009962, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34905536
6.
Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer's disease-associated genes.
Proc Natl Acad Sci U S A
; 118(52)2021 12 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34949639
7.
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Am J Hum Genet
; 106(5): 717-725, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330417
8.
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Cerebellum
; 22(2): 206-222, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218524
9.
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
Hum Mol Genet
; 29(9): 1568-1579, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32356556
10.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Am J Hum Genet
; 105(5): 907-920, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607425
11.
Drosophila Voltage-Gated Sodium Channels Are Only Expressed in Active Neurons and Are Localized to Distal Axonal Initial Segment-like Domains.
J Neurosci
; 40(42): 7999-8024, 2020 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32928889
12.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(2): 245-260, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057031
13.
Regulation of myeloid cell phagocytosis by LRRK2 via WAVE2 complex stabilization is altered in Parkinson's disease.
Proc Natl Acad Sci U S A
; 115(22): E5164-E5173, 2018 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760073
14.
LRRK2(I2020T) functional genetic interactors that modify eye degeneration and dopaminergic cell loss in Drosophila.
Hum Mol Genet
; 26(7): 1247-1257, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158614
15.
BAG2 Gene-mediated Regulation of PINK1 Protein Is Critical for Mitochondrial Translocation of PARKIN and Neuronal Survival.
J Biol Chem
; 290(51): 30441-52, 2015 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26538564
16.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193138
17.
Progressive dopaminergic cell loss with unilateral-to-bilateral progression in a genetic model of Parkinson disease.
Proc Natl Acad Sci U S A
; 109(39): 15918-23, 2012 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23019375
18.
Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila.
Nat Commun
; 15(1): 3326, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38637532
19.
DJ-1 protects the nigrostriatal axis from the neurotoxin MPTP by modulation of the AKT pathway.
Proc Natl Acad Sci U S A
; 107(7): 3186-91, 2010 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20133695
20.
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.
Nat Metab
; 5(9): 1595-1614, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37653044