Paul C. Marcogliese

发表

Loss-of-function in IRF2BPL is associated with neurological phenotypes

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, bioRxiv.

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2021, bioRxiv.

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

N. C. Yeo, Undiagnosed Diseases Network, S. Nelson, 2022, Science advances.

Drosophila Voltage-Gated Sodium Channels Are Only Expressed in Active Neurons and Are Localized to Distal Axonal Initial Segment-like Domains

Burak Tepe, Stein Aerts, Todd C. Holmes, 2020, The Journal of Neuroscience.

Sphingolipids in the Pathogenesis of Parkinson’s Disease and Parkinsonism

Hugo J. Bellen, H. Bellen, Paul C. Marcogliese, 2019, Trends in Endocrinology & Metabolism.

LRRK2(I2020T) functional genetic interactors that modify eye degeneration and dopaminergic cell loss in Drosophila

David S. Park, R. Slack, Paul C. Marcogliese, 2017, Human molecular genetics.

DJ-1 protects the nigrostriatal axis from the neurotoxin MPTP by modulation of the AKT pathway

David S. Park, Maxime W. C. Rousseaux, T. Mak, 2010, Proceedings of the National Academy of Sciences.

LRRK2 Phosphorylates Neuronal Elav RNA-Binding Proteins to Regulate Phenotypes Relevant to Parkinson’s Disease

Gareth A. Palidwor, H. Okano, Huishan Guo, 2022, bioRxiv.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Michael F. Wangler, J. Rosenfeld, A. Moser, 2020, Neuron.

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

Michael F. Wangler, Undiagnosed Diseases Network, A. Vanderver, 2020, Human molecular genetics.

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype

Michael F. Wangler, J. Rosenfeld, H. Mefford, 2020, Molecular genetics & genomic medicine.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

E. Zackai, H. Hakonarson, H. Brunner, 2022, HGG advances.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Lisa T. Emrick, Michael F. Wangler, J. Rosenfeld, 2019, Nature Communications.

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.

David R. Murdock, Michael F. Wangler, J. Rosenfeld, 2020, American journal of human genetics.

Drosophila as a Model for Human Diseases

Michael F. Wangler, M. Wangler, Paul C. Marcogliese, 2018 .

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

S. Antonarakis, E. Falconnet, H. Bellen, 2019, American journal of human genetics.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2022, Cell reports.

Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy.

Petar Glažar, N. Rajewsky, M. Bickle, 2022, Cell reports.

IRF2BPL Is Associated with Neurological Phenotypes.

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, American journal of human genetics.

DJ-1 modulates the unfolded protein response and cell death via upregulation of ATF4 following ER stress

David S. Park, R. Slack, Paul C. Marcogliese, 2019, Cell Death & Disease.

Lrrk2 alleles modulate inflammation during microbial infection of mice in a sex-dependent manner

David S. Park, J. Rioux, D. Philpott, 2019, Science Translational Medicine.

TM2D genes regulate Notch signaling and neuronal function in Drosophila

Shinya Yamamoto, Samantha L. Deal, G. Neely, 2021, PLoS genetics.

Alzheimer’s disease-associated TM2D genes regulate Notch signaling and neuronal function in Drosophila

Shinya Yamamoto, Samantha L. Deal, G. Neely, 2021, bioRxiv.

Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.

W. Chung, Tracy S. Gertler, H. Bellen, 2022, American journal of human genetics.

Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer’s disease–associated genes

H. Bellen, Lindsey D. Goodman, M. Ioannou, 2021, Proceedings of the National Academy of Sciences.

IRF2BPL Is Associated with Neurological Phenotypes.

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, American journal of human genetics.

Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer’s disease–associated genes

H. Bellen, Lindsey D. Goodman, M. Ioannou, 2021, Proceedings of the National Academy of Sciences.

Loss of Mitochondrial Enoyl CoA Reductase causes elevated ceramide levels and impairs iron metabolism

M. Wheeler, H. Bellen, J. Kohler, 2023, bioRxiv.

Progressive dopaminergic cell loss with unilateral-to-bilateral progression in a genetic model of Parkinson disease

David S. Park, Maxime W. C. Rousseaux, T. Mak, 2012, Proceedings of the National Academy of Sciences.

Regulation of myeloid cell phagocytosis by LRRK2 via WAVE2 complex stabilization is altered in Parkinson’s disease

David S. Park, A. Lang, R. Slack, 2018, Proceedings of the National Academy of Sciences.

BAG2 Gene-mediated Regulation of PINK1 Protein Is Critical for Mitochondrial Translocation of PARKIN and Neuronal Survival*

David S. Park, Maxime W. C. Rousseaux, D. Figeys, 2015, The Journal of Biological Chemistry.

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

Undiagnosed Diseases Network, J. Rosenfeld, P. Striano, 2022, The Cerebellum.

DJ-1 modulates the unfolded protein response and cell death via upregulation of ATF4 following ER stress

David S. Park, R. Slack, Paul C. Marcogliese, 2019, Cell Death & Disease.

Unaltered Striatal Dopamine Release Levels in Young Parkin Knockout, Pink1 Knockout, DJ-1 Knockout and LRRK2 R1441G Transgenic Mice

David S. Park, L. Trudeau, H. Büeler, 2014, PloS one.

Characterization and Elucidation of Genomic Modifiers of DJ-1 and LRRK2 Animal Models of Parkinson’s Disease

Paul C. Marcogliese, 2016 .

A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels

M. Wheeler, H. Bellen, J. Kohler, 2023, Nature Metabolism.

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in drosophila.

J. Lupski, H. Bellen, J. Fock, 2022, Human molecular genetics.

Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila

E. Verheyen, Oguz Kanca, Paul C. Marcogliese, 2024, Nature communications.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

M. Wangler, Paul C. Marcogliese, Hyung-Lok Chung, 2020, Neuron.