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

Defining the pathogenicity of creatine deficiency syndrome.

Human mutation - 1 Mar 2011

Alcaide Patricia, Merinero Begoña, Ruiz-Sala Pedro, Richard Eva, Navarrete Rosa, Arias Angela, Ribes Antonia, Artuch Rafael, Campistol Jaume, Ugarte Magdalena, Rodríguez-Pombo Pilar

Abstract excerpt

This work examined nine patients with creatine deficiency syndrome (CDS): six with a creatine transport (CRTR) defect and three with a GAMT defect. Eleven nucleotide variations were detected: six in SLC6A8 and five in GAMT. These changes were analyzed at the mRNA level and specific alleles (most...

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases, Metabolic, Inborn
Share to Cell Cycle
Share to Creatine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Methyltransferases

Share to p38 Mitogen-Activated Protein Kinases

Share to Reactive Oxygen Species

Share to Stress, Physiological

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 21140503
DOI: 10.1002/humu.21421

Genes

GAMT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21140503-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Defining the pathogenicity of creatine deficiency syndrome.PMID 21140503Read ↗

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic applicationSemantic proximity Read ↗

Creatine transporter deficiency: Novel mutations and functional studiesSemantic proximity Read ↗

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.Semantic proximity Read ↗

Targeting the Mitochondrial Phenotype in Cockayne Syndrome Patient Cells: From Bioenergetic Fragility to Pharmacologic RescueSemantic proximity Read ↗

The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency SyndromeSemantic proximity Read ↗

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.Semantic proximity Read ↗

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.Semantic proximity Read ↗

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.Semantic proximity Read ↗

Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8.Semantic proximity Read ↗

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.Semantic proximity Read ↗

Creatine biosynthesis and transport in health and disease.Semantic proximity Read ↗

Genetic Determinants of Creatine Bioavailability and Responsiveness: Emphasis on Common Low-Impact Variants.Semantic proximity Read ↗

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