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Article

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.

European journal of human genetics : EJHG - 1 Feb 2015

Livide Gabriella, Patriarchi Tommaso, Amenduni Mariangela, Amabile Sonia, Yasui Dag, Calcagno Eleonora, Lo Rizzo Caterina, De Falco Giulia, Ulivieri Cristina, Ariani Francesca, Mari Francesca, Mencarelli Maria Antonietta, Hell Johannes Wilhelm, Renieri Alessandra, Meloni Ilaria

Abstract excerpt

Rett syndrome is a monogenic disease due to de novo mutations in either MECP2 or CDKL5 genes. In spite of their involvement in the same disease, a functional interaction between the two genes has not been proven. MeCP2 is a transcriptional regulator; CDKL5 encodes for a kinase protein that might...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24916645
DOI: 10.1038/ejhg.2014.81
PMCID: PMC4172451

Genes

CDKL5
MECP2
GRID1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24916645-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.PMID 24916645Read ↗

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