Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
Open accessAbstract
Mutations in the actively expressed, maternal allele of the imprinted KCNK9 gene cause Birk-Barel intellectual disability syndrome (BBIDS). Using a BBIDS mouse model, we identify here a partial rescue of the BBIDS-like behavioral and neuronal phenotypes mediated via residual expression from the paternal Kcnk9 ( Kcnk9 pat ) allele. We further demonstrate that the second-generation HDAC inhibitor CI-994 induces enhanced expression from the paternally silenced Kcnk9 allele and leads to a full rescue of the behavioral phenotype suggesting CI-994 as a promising molecule for BBIDS therapy. Thus, these findings suggest a potential approach to improve cognitive dysfunction in a mouse model of an imprinting disorder.
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CI-994 is a cognitive enhancer / improves cognitive function.
“CI-994 can cross the blood–brain barrier and is a cognitive enhancer.”
From CI-994 is a dual modulator of class I HDACs and Wnt/β-catenin signaling for the treatment of Alzheimer's disease (2026) · cites this paper as [22]
The Results section ('CI-994 rescues the behavioral phenotype of Kcnk9KOmat animals'; page unavailable) reports improved Y-maze working-memory performance in a mouse model after CI-994 treatment. The same section reports no significant Y-maze improvement in wild-type mice, so the unqualified description of CI-994 as a cognitive enhancer is broader than the evidence. The paper also reports that administered CI-994 reaches the brain, consistent with blood–brain barrier passage. (LLM, conf=0.87)
Experimental — accuracy not yet measuredCI-994 is a molecular memory aid and promotes memory formation and cognitive function in vivo.
“CI-994 is a molecular memory aid and promotes memory formation and cognitive function in vivo [9, 17, 21–24].”
From CI-994 is a dual modulator of class I HDACs and Wnt/β-catenin signaling for the treatment of Alzheimer's disease (2026) · cites this paper as [22]
The Results section, “CI-994 rescues the behavioral phenotype of Kcnk9KOmat animals” (page not provided), reports improved Y-maze performance, a measure of working memory, in a mouse model of Birk-Barel syndrome. It reports no significant working-memory improvement in wild-type mice. The study therefore supports an in vivo rescue of impaired working memory, but not the broader claim that CI-994 generally promotes memory formation or cognitive function. (LLM, conf=0.88)
Experimental — accuracy not yet measuredCI-994 alleviates cognitive deficits in mouse models of neurodegenerative disorders.
“CI-994 acts as a memory enhancer and alleviates cognitive deficits in mouse models of neurodegenerative disorders [9, 17, 21–24].”
From CI-994 is a dual modulator of class I HDACs and Wnt/β-catenin signaling for the treatment of Alzheimer's disease (2026) · cites this paper as [22]
The Results section (“CI-994 rescues the behavioral phenotype of Kcnk9KOmat animals”; page not available) reports improved Y-maze working-memory performance after CI-994 treatment in a mouse model of Birk-Barel intellectual disability syndrome. It does not establish relief of cognitive deficits in mouse models of neurodegenerative disorders, and the Discussion reports no significant working-memory effect in wild-type mice. (LLM, conf=0.88)
Experimental — accuracy not yet measuredCI-994 acts as a memory enhancer in mouse models of neurodegenerative disorders.
“CI-994 acts as a memory enhancer and alleviates cognitive deficits in mouse models of neurodegenerative disorders [9, 17, 21–24].”
From CI-994 is a dual modulator of class I HDACs and Wnt/β-catenin signaling for the treatment of Alzheimer's disease (2026) · cites this paper as [22]
The Results section, “CI-994 rescues the behavioral phenotype of Kcnk9KOmat animals” (page unavailable), reports improved Y-maze performance in mice modeling Birk-Barel intellectual disability syndrome. It does not establish a memory-enhancing effect in models of neurodegenerative disorders; the Discussion reports no significant effect on working memory in wild-type mice. (LLM, conf=0.88)
Experimental — accuracy not yet measured
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- Authors
- Cooper, A., Butto, T., Hammer, N., Jagannath, S., Fend-Guella, D. L., Akhtar, J., Radyushkin, K., Lesage, F., Winter, J., Strand, S., Roeper, J., Zechner, U., & Schweiger, S.
- Affiliations
- University Medical Center of the Johannes Gutenberg University Mainz (DE)
- Johannes Gutenberg University Mainz (DE)
- Goethe University Frankfurt (DE)
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Zechner, Ulrich
- Schweiger, Susann
- ORCID
- Venue
- Nature Communications
- Published
- 2020-01-24
- Volume
- 11
- Issue
- 1
- Pages
- 480-480
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC6981138
- OpenAlex
- W3003139723
- Cited by
- 37
- References
- 42
- Citations by year
- 2026: 4 · 2025: 1 · 2024: 3 · 2023: 9 · 2022: 12 · 2021: 5 · 2020: 3
- FWCI
- 4.25
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Informationszentrum Lebenswissenschaften (ZB MED) (submittedVersion, cc-by)
- Research Portal (King's College London) (submittedVersion)
- Publication Server of Goethe University Frankfurt am Main (Goethe University Frankfurt) (submittedVersion, cc-by)
- Funders
- Deutsche Forschungsgemeinschaft (CRC 1080, CRC--1193)
- Agence Nationale de la Recherche (ANR-11-LABX-0015)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- KCNK9, genomic imprinting, histone deacetylase inhibition, CI-994, imprinted gene expression, cognitive impairment, mouse model
- MeSH terms
- Animals, Behavior, Animal, Benzamides, Brain, Disease Models, Animal, Female, Histones, Humans, Locus Coeruleus, Male, Intellectual Disability, Mice, Inbred C57BL, Muscle Hypotonia, Mutation, Phenotype, Phenylenediamines, Potassium Channels, Up-Regulation, Mice, Knockout, Genomic Imprinting, Craniofacial Abnormalities, Mice, Gene Knockdown Techniques, Histone Deacetylase Inhibitors
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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