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Marcogliese, Paul C.
103  results:
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1

Variant functional assessment in Drosophila by overexpressi..:

Her, Yina ; Pascual, Danielle M. ; Goldstone-Joubert, Zoe.
Genome.  67 (2024)  6 - p. 158-167 , 2024
Link: https://doi.org/10.1139/..
 
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Loss of the endoplasmic reticulum protein Tmem208 affects c..:

Dutta, Debdeep ; Kanca, Oguz ; Shridharan, Rishi V....
Proceedings of the National Academy of Sciences.  121 (2024)  9 - p. , 2024
Link: https://doi.org/10.1073/..
 
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3

Cdk8/CDK19 promotes mitochondrial fission through Drp1 phos..:

Liao, Jenny Zhe ; Chung, Hyung-lok ; Shih, Claire...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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A defect in mitochondrial fatty acid synthesis impairs iron..:

Dutta, Debdeep ; Kanca, Oguz ; Byeon, Seul Kee...
Nature Metabolism.  5 (2023)  9 - p. 1595-1614 , 2023
Link: https://doi.org/10.1038/..
 
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5

Drosophila functional screening of de novo variants in auti..:

Marcogliese, Paul C. ; Deal, Samantha L. ; Andrews, Jonathan...
Cell Reports.  38 (2022)  11 - p. 110517 , 2022
Link: https://doi.org/10.1016/..
 
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6

Mechanisms of IRF2BPL-related disorders and identification ..:

Sinha Ray, Shrestha ; Dutta, Debdeep ; Dennys, Cassandra...
Cell Reports.  41 (2022)  10 - p. 111751 , 2022
Link: https://doi.org/10.1016/..
 
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7

De novo variants in EMC1 lead to neurodevelopmental delay a..:

Chung, Hyung-Lok ; Rump, Patrick ; Lu, Di...
Human Molecular Genetics.  31 (2022)  19 - p. 3231-3244 , 2022
Link: https://doi.org/10.1093/..
 
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8

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Dev..:

Accogli, Andrea ; Lu, Shenzhao ; Musante, Ilaria...
The Cerebellum.  22 (2022)  2 - p. 206-222 , 2022
Link: https://doi.org/10.1007/..
 
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9

Neuronal ROS-induced glial lipid droplet formation is alter..:

Moulton, Matthew J. ; Barish, Scott ; Ralhan, Isha...
Proceedings of the National Academy of Sciences.  118 (2021)  52 - p. , 2021
Link: https://doi.org/10.1073/..
 
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10

TM2D genes regulate Notch signaling and neuronal function i..:

Salazar, Jose L. ; Yang, Sheng-An ; Lin, Yong Qi...
PLOS Genetics.  17 (2021)  12 - p. e1009962 , 2021
Link: https://doi.org/10.1371/..
 
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11

Missense variants in CTNNB1 can be associated with vitreore..:

Rossetti, Linda Z. ; Bekheirnia, Mir Reza ; Lewis, Andrea M....
Molecular Genetics & Genomic Medicine.  9 (2020)  1 - p. , 2020
Link: https://doi.org/10.1002/..
 
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12

De novo mutations in TOMM70, a receptor of the mitochondria..:

Bellen, Hugo J ; Sweetser, David A ; Yamamoto, Shinya...
Human Molecular Genetics.  29 (2020)  9 - p. 1568-1579 , 2020
Link: https://doi.org/10.1093/..
 
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13

DrosophilaVoltage-Gated Sodium Channels Are Only Expressed ..:

Ravenscroft, Thomas A. ; Janssens, Jasper ; Lee, Pei-Tseng...
The Journal of Neuroscience.  40 (2020)  42 - p. 7999-8024 , 2020
Link: https://doi.org/10.1523/..
 
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14

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal L..:

Chung, Hyung-lok ; Wangler, Michael F. ; Marcogliese, Paul C....
Neuron.  106 (2020)  4 - p. 589-606.e6 , 2020
Link: https://doi.org/10.1016/..
 
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15

Disruptive mutations in TANC2 define a neurodevelopmental s..:

Guo, Hui ; Bettella, Elisa ; Marcogliese, Paul C....
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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