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

A mouse model of a patient derived P544L mutation in the Slc6a8 gene shows hypoactivity and cognitive deficits.

Brain research - 1 Mar 2026

Perna Marla K, Gechijian Lara N, Blanchette Heather S, Liou Rosalyn, Williams Michael T, Vorhees Charles V, Skelton Matthew R

Abstract excerpt

Creatine (CR) is essential for normal brain function. A lack of brain CR results in intellectual disability, epilepsy, and language delay in humans. The most common cause of CR deficiency in humans results from mutations in the CR transporter (SLC6A8). Several large deletion models of Slc6a8 have been characterized and are excellent models for global creatine loss. However, other SLC6A8 variants are reported in...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Brain Diseases, Metabolic, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cognition Disorders

Share to Creatine

Share to Membrane Transport Proteins

Share to Mice, Transgenic

Share to Nerve Tissue Proteins

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 41500337
DOI: 10.1016/j.brainres.2026.150151

Genes

SLC6A8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mouse model of a patient derived P544L mutation in the Slc6a8 gene shows hypoactivity and cognitive deficits.PMID 41500337Read ↗

Cognitive deficits and increases in creatine precursors in a brain-specific knockout of the creatine transporter gene <i>Slc6a8</i>Semantic proximity Read ↗

Cognitive deficits and increases in creatine precursors in a brain-specific knockout of the creatine transporter gene Slc6a8.Semantic proximity Read ↗

A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism.Semantic proximity Read ↗

Dodecyl Creatine Ester Improves Cognitive Function and Identifies Drivers of Creatine DeficiencySemantic proximity Read ↗

The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic DevelopmentSemantic proximity Read ↗

A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolismSemantic proximity Read ↗

A novel mouse model of creatine transporter deficiencySemantic proximity Read ↗

A novel mouse model of creatine transporter deficiencySemantic proximity Read ↗

Generation and characterization of a knock-in mouse model for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM)Semantic proximity Read ↗

Creatine transporter (Slc6a8) knockout mice show an inattentive-like phenotype in the 5-choice serial reaction time testSemantic proximity Read ↗

Creatine transporter deficient rat model show motor dysfunction, cerebellar alterations and muscle creatine deficiency without muscle atrophySemantic proximity Read ↗

A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain agingSemantic proximity Read ↗

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