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

CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington’s disease

29 Sept 2021

Abstract excerpt

cause biotin-thiamine–responsive basal ganglia disease (BTBGD), a striatal disorder that can be treated with a combination of biotin and thiamine. Similar to patients with BTBGD, patients with HD demonstrated decreased thiamine in the cerebrospinal fluid. Furthermore, patients and mice with HD showed decreased striatal concentrations of thiamine pyrophosphate (TPP), the metabolically active form of thiamine....

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Mitochondrial Function and Pathology
Share to Parkinson's Disease Mechanisms and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34586830
DOI: 10.1126/scitranslmed.abe7104

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

CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington’s diseasePMID 34586830Read ↗

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencingSemantic proximity Read ↗

Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.Semantic proximity Read ↗

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia diseaseSemantic proximity Read ↗

Biotin-Responsive Basal Ganglia Disease: Treatable Metabolic Disorder with SLC19A3 Mutation Presenting as Rapidly Progressive Dementia.Semantic proximity Read ↗

Single nuclei RNAseq analysis of HD mouse models and human brain reveals impaired oligodendrocyte maturation and potential role for thiamine metabolismSemantic proximity Read ↗

Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.Semantic proximity Read ↗

Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-Responsive Basal Ganglia disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 geneSemantic proximity Read ↗

ATP13A2 Loss of Function-Driven Polyamine Dysregulation Induces SAM Depletion and Epigenetic Astrocyte ToxicitySemantic proximity Read ↗

Polyamine pathway contributes to the pathogenesis of Parkinson disease.Semantic proximity Read ↗

Thiamine pyrophosphokinase deficiency induces Alzheimer’s pathologySemantic proximity Read ↗

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Semantic proximity Read ↗

METTL3-IGF2BP3 m⁶A axis drives mutant huntingtin stability and neurodegeneration in Huntington’s diseaseSemantic proximity Read ↗

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