|DJ-1 protects the nigrostriatal axis from the neurotoxin MPTP by modulation of the AKT pathway|
H Aleyasin, MWC Rousseaux, PC Marcogliese, SJ Hewitt, I Irrcher, ...
Proceedings of the National Academy of Sciences 107 (7), 3186-3191, 2010
|Regulation of myeloid cell phagocytosis by LRRK2 via WAVE2 complex stabilization is altered in Parkinson’s disease|
KS Kim, PC Marcogliese, J Yang, SM Callaghan, V Resende, ...
Proceedings of the National Academy of Sciences 115 (22), E5164-E5173, 2018
|Progressive dopaminergic cell loss with unilateral-to-bilateral progression in a genetic model of Parkinson disease|
MWC Rousseaux, PC Marcogliese, D Qu, SJ Hewitt, S Seang, RH Kim, ...
Proceedings of the National Academy of Sciences 109 (39), 15918-15923, 2012
|Sphingolipids in the Pathogenesis of Parkinson’s Disease and Parkinsonism|
G Lin, L Wang, PC Marcogliese, HJ Bellen
Trends in Endocrinology & Metabolism 30 (2), 106-117, 2019
|IRF2BPL is associated with neurological phenotypes|
PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ...
The American Journal of Human Genetics 103 (2), 245-260, 2018
|Lrrk2 alleles modulate inflammation during microbial infection of mice in a sex-dependent manner|
B Shutinoski, M Hakimi, IE Harmsen, M Lunn, J Rocha, N Lengacher, ...
Science translational medicine 11 (511), eaas9292, 2019
|Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms|
H Chung, MF Wangler, PC Marcogliese, J Jo, TA Ravenscroft, Z Zuo, ...
Neuron 106 (4), 589-606. e6, 2020
|Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer’s disease–associated genes|
MJ Moulton, S Barish, I Ralhan, J Chang, LD Goodman, JG Harland, ...
Proceedings of the National Academy of Sciences 118 (52), e2112095118, 2021
|BAG2 gene-mediated regulation of PINK1 protein is critical for mitochondrial translocation of PARKIN and neuronal survival|
D Qu, A Hage, K Don-Carolis, E Huang, A Joselin, F Safarpour, ...
Journal of Biological Chemistry 290 (51), 30441-30452, 2015
|Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders|
H Guo, E Bettella, PC Marcogliese, R Zhao, JC Andrews, TJ Nowakowski, ...
Nature communications 10 (1), 4679, 2019
|Unaltered Striatal Dopamine Release Levels in Young Parkin Knockout, Pink1 Knockout, DJ-1 Knockout and LRRK2 R1441G Transgenic Mice|
G Sanchez, RK Varaschin, H BŁeler, PC Marcogliese, DS Park, ...
PLoS One 9 (4), e94826, 2014
|Drosophila voltage-gated sodium channels are only expressed in active neurons and are localized to distal axonal initial segment-like domains|
TA Ravenscroft, J Janssens, PT Lee, B Tepe, PC Marcogliese, ...
Journal of Neuroscience 40 (42), 7999-8024, 2020
|DJ-1 modulates the unfolded protein response and cell death via upregulation of ATF4 following ER stress|
J Yang, KS Kim, GO Iyirhiaro, PC Marcogliese, SM Callaghan, D Qu, ...
Cell Death & Disease 10 (2), 135, 2019
|De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment|
D Dutta, LC Briere, O Kanca, PC Marcogliese, MA Walker, FA High, ...
Human Molecular Genetics 29 (9), 1568-1579, 2020
|De novo variants in CDK19 are associated with a syndrome involving intellectual disability and epileptic encephalopathy|
H Chung, X Mao, H Wang, YJ Park, PC Marcogliese, JA Rosenfeld, ...
The American Journal of Human Genetics 106 (5), 717-725, 2020
|Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases|
PC Marcogliese, SL Deal, J Andrews, JM Harnish, VH Bhavana, ...
Cell reports 38 (11), 2022
|LRRK2(I2020T) functional genetic interactors that modify eye degeneration and dopaminergic cell loss in Drosophila|
PC Marcogliese, S Abuaish, G Kabbach, E Abdel-Messih, S Seang, G Li, ...
Human molecular genetics 26 (7), 1247-1257, 2017
|Bi-allelic variants in IQSEC1 cause intellectual disability, developmental delay, and short stature|
M Ansar, H Chung, A Al-Otaibi, MN Elagabani, TA Ravenscroft, ...
The American Journal of Human Genetics 105 (5), 907-920, 2019
|Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a†…|
LZ Rossetti, MR Bekheirnia, AM Lewis, HC Mefford, K Golden‐Grant, ...
Molecular Genetics & Genomic Medicine 9 (1), e1542, 2021
|Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures|
S Lu, R Hernan, PC Marcogliese, Y Huang, TS Gertler, M Akcaboy, S Liu, ...
The American Journal of Human Genetics 109 (4), 571-586, 2022