ArticleAmerican journal of human genetics2017
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Sugar transporter SLC45 gene family members: roles in malignant tumors and research progress.Molecular biology reports · 2026Review
- An impaired glycolysis induces ATP deficiency and reduced cell respiration in stem cells of patients with autism spectrum disorders.Scientific reports · 2025Article
- Single-cell analysis of dup15q syndrome reveals developmental and postnatal molecular changes in autism.Nature communications · 2025Article
- Association of SNPs in carbohydrate metabolism genes with insulin resistance indicators in the Mexican population.Nutrition & metabolism · 2025Article
- Glut1 Deficiency Syndrome: Novel Pathomechanisms, Current Concepts, and Challenges.Journal of inherited metabolic disease · 2025Review
- Genome-wide screen to identify genetic loci associated with cognitive decline in late-life depression.International psychogeriatrics · 2024Article
- Disruption of a DNA G-quadruplex causes a gain-of-functionActa biochimica et biophysica Sinica · 2024Article
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- Integrated analysis of transcriptome and metabolome revealed biological basis of sows from estrus to lactation.iScience · 2023Article
- Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.Frontiers in neurology · 2023Article
- SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.Human genetics · 2022Article
- Database mining analysis revealed the role of the putative HChannels (Austin, Tex.) · 2021Article
- Pathway-based classification of glioblastoma uncovers a mitochondrial subtype with therapeutic vulnerabilities.Nature cancer · 2021Article
- Global Gene Expression Profiling and Transcription Factor Network Analysis of Cognitive Aging in Monozygotic Twins.Frontiers in genetics · 2021Article
- Inborn errors of metabolism.Handbook of clinical neurology · 2019Review
- Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.International journal of molecular sciences · 2018Review
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11 authors.
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Abstract
Glucose transport across the blood brain barrier and into neural cells is critical for normal cerebral physiologic function. Dysfunction of the cerebral glucose transporter GLUT1 (encoded by SLC2A1) is known to result in epilepsy, intellectual disability (ID), and movement disorder. Using whole-exome sequencing, we identified rare homozygous missense variants (c.526C>T [p.Arg176Trp] and c.629C>T [p.Ala210Val]) in SLC45A1, encoding another cerebral glucose transporter, in two consanguineous multiplex families with moderate to severe ID, epilepsy, and variable neuropsychiatric features. The variants segregate with the phenotype in these families, affect well-conserved amino acids, and are predicted to be damaging by in silico programs. Intracellular glucose transport activity of the p.Arg176Trp and p.Ala210Val SLC45A1 variants, measured in transfected COS-7 cells, was approximately 50% (p = 0.013) and 33% (p = 0.008) lower, respectively, than that of intact SLC45A1. These results indicate that residues at positions 176 and 210 are critical for the glucose transport activity of SLC45A1. All together, our data strongly suggest that recessive mutations in SLC45A1 cause ID and epilepsy. SLC45A1 thus represents the second cerebral glucose transporter, in addition to GLUT1, to be involved in neurodevelopmental disability. Identification of additional individuals with mutations in SLC45A1 will allow better definition of the associated phenotypic spectrum and the exploration of potential targeted treatment options.
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