Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Base editing restores CDKL5 expression and rescues neuronal deficits in a patient-derived model of CDKL5 deficiency disorder.

Scientific reports - 10 Apr 2026

Chai Yue, Zhu Yao, Zhu Jiayi, Guan Mingfeng, Zheng Zhongyu, Chen Yu, Tsang Hayley Wing Sum, Ye Tao, Ip Jacque Pak Kan

Abstract excerpt

Cyclin-dependent kinase like 5 (CDKL5) deficiency disorder (CDD) is a rare monogenic neurodevelopmental disorder caused by pathogenic mutations in the CDKL5 gene, with approximately 50% of reported variants being point mutations. Base editing presents a promising therapeutic strategy to correct such mutations, restore endogenous CDKL5 expression, and pave the way for novel treatments for CDD. To assess the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Differentiation
Share to Epileptic Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Editing

Share to Induced Pluripotent Stem Cells

Share to Mutation

Share to Neurons

Share to Protein Serine-Threonine Kinases

Share to Spasms, Infantile

Source

Open in PubMed Open full text

Identifiers

PMID: 41963441
DOI: 10.1038/s41598-026-48097-y
PMCID: PMC13201562

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Base editing restores CDKL5 expression and rescues neuronal deficits in a patient-derived model of CDKL5 deficiency disorder.PMID 41963441Read ↗

Scaled and Efficient Derivation of Loss of Function Alleles in Risk Genes for Neurodevelopmental and Psychiatric Disorders in Human iPSCSemantic proximity Read ↗

Scaled and efficient derivation of loss-of-function alleles in risk genes for neurodevelopmental and psychiatric disorders in human iPSCs.Semantic proximity Read ↗

Epigenetic Reactivation of CDKL5 Rescues CDKL5 Deficiency DisorderSemantic proximity Read ↗

Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.Semantic proximity Read ↗

Base Editing Rescue of Seizures and SUDEP in <i>SCN8A</i> Developmental Epileptic EncephalopathySemantic proximity Read ↗

Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdownSemantic proximity Read ↗

Small-molecule compounds boost genome-editing efficiency of cytosine base editor.Semantic proximity Read ↗

Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression.Semantic proximity Read ↗

Base editing rescues seizures and sudden death in a SCN8A mutation-associated developmental epileptic encephalopathy model.Semantic proximity Read ↗

Generation of a human induced pluripotent stem cell (iPSC) line from a patient with a CDKL5 gene mutation.Semantic proximity Read ↗

Efficient gene editing in induced pluripotent stem cells enabled by an inducible adenine base editor with tunable expression.Semantic proximity Read ↗

In vitro genome editing rescues parkinsonism phenotypes in induced pluripotent stem cells-derived dopaminergic neurons carrying LRRK2 p.G2019S mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.