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Showing 1–4 of 4 results

Advanced filters: Author: Simeon R. Mihaylov Clear advanced filters

The master energy homeostasis regulator PGC-1α exhibits an mRNA nuclear export function

PGC-1α is a master regulator activating the transcription of key genes controlling the cell’s energy production. Here the authors show that PGC-1α has a function in the NXF1-dependent nuclear export of mRNAs.

Simeon R. Mihaylov
Lydia M. Castelli
Guillaume M. Hautbergue
ResearchOpen Access07 Sept 2023
Nature Communications

Volume: 14, P: 1-22
Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability

CDKL5 deficiency disorder is one of the most common genetic forms of epilepsy. Here the authors show that a model of CDKL5 deficiency disorder involves a channelopathy of CACNA1E gain-of-function, molecularly linking two distinct single-gene developmental and epileptic encephalopathies.

Marisol Sampedro-Castañeda
Lucas L. Baltussen
Sila K. Ultanir
ResearchOpen Access11 Dec 2023
Nature Communications

Volume: 14, P: 1-18
Cell type-specific expression, regulation and compensation of CDKL5 activity in mouse brain

Margaux Silvestre
Kelvin Dempster
Sila K. Ultanir
ResearchOpen Access08 Feb 2024
Molecular Psychiatry

Volume: 29, P: 1844-1856
The zinc finger/RING domain protein Unkempt regulates cognitive flexibility

Elin Vinsland
Pranetha Baskaran
Joseph M. Bateman
ResearchOpen Access11 Aug 2021
Scientific Reports

Volume: 11, P: 1-14

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