[HTML][HTML] Microcephaly with a disproportionate hippocampal reduction, stem cell loss and neuronal lipid droplet symptoms in Trappc9 KO mice

S Aljuraysi, M Platt, M Pulix, H Poptani… - Neurobiology of Disease, 2024 - Elsevier
Mutations of the human TRAFFICKING PROTEIN PARTICLE COMPLEX SUBUNIT 9
(TRAPPC9) cause a neurodevelopmental disorder characterised by microcephaly and …

[HTML][HTML] Biallelic non-productive enhancer-promoter interactions precede imprinted expression of Kcnk9 during mouse neural commitment

CR Rojas, J Cercy, S Perillous… - Human Genetics and …, 2024 - cell.com
It is only partially understood how constitutive allelic methylation at imprinting control regions
(ICRs) interacts with other regulation levels to drive timely parental allele-specific expression …

Chronic pharmacologic manipulation of dopamine transmission ameliorates metabolic disturbance in Trappc9-linked brain developmental syndrome

Y Li, M Usman, E Sapp, Y Ke, Z Wang, A Boudi… - JCI insight, 2024 - insight.jci.org
Loss-of-function mutations of the gene encoding the trafficking protein particle complex
subunit 9 (trappc9) cause autosomal recessive intellectual disability and obesity by …

Chronic pharmacologic manipulation of dopamine transmission ameliorates metabolic disturbance in syndrome caused by mutated trappc9

Y Li, M Usman, E Sapp, Y Ke, Z Wang, A Boudi… - bioRxiv, 2024 - biorxiv.org
Loss-of-function mutations of the gene encoding the trafficking protein particle complex
subunit 9 (trappc9) cause intellectual disability and obesity by unknown mechanisms …

[PDF][PDF] Stéphanie Maupetit-Méhouas, Astrid Espinadel, Marylou Dupré, Charles C. Hong, 2 Kenichiro Hata, 3, 4 Kazuhiko Nakabayashi, 3 Antonius Plagge, 5 Tristan …

CR Rojas, J Cercy, S Perillous, C Gonthier-Guéret… - 2024 - core.ac.uk
It is only partially understood how constitutive allelic methylation at imprinting control regions
(ICRs) interacts with other regulation levels to drive timely parental allele-specific expression …

Epigenetic features, allelic expression and transcriptional regulatory elements at the Peg13, Trappc9, Ago2 imprinted gene cluster in brain and neural cells

M Claxton - 2023 - livrepository.liverpool.ac.uk
Genomic imprinting is a molecular mechanism that causes genes to be expressed in a
parent-of-origin-specific manner due to epigenetic modifications to the genome. This results …

Epigenetic Features, Allelic Expression aand Transcriptional Regulatory Elements at the Peg13, Trappc9, Ago2 Imprinted Gene Cluster in Brain and Neural Cells

M Claxton - 2023 - search.proquest.com
Genomic imprinting is a molecular mechanism that causes genes to be expressed in a
parent-of-origin-specific manner due to epigenetic modifications to the genome. This results …