E-LIB Suche - Ergebnisse für: Marcogliese, Paul

1

Abstract 2256 Redox enzymes as upstream controllers of endo..:

Simmen, Thomas ; Chen, Junsheng ; Yap, Megan...
Journal of Biological Chemistry. 300 (2024) 3 - p. 106711 , 2024

Link: https://doi.org/10.1016/..

2

P173: Precision animal modeling and VUS-resolution in a nov..:

Burrage, Lindsay ; Lanza, Denise ; Marcogliese, Paul...
Genetics in Medicine Open. 2 (2024) - p. 101070 , 2024

Link: https://doi.org/10.1016/..

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

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/..

15

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/..