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

alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia.

Neurology - 1 Aug 1997

Tamaru Y, Hirano M, Kusaka H, Ito H, Imai T, Ueno S

Abstract excerpt

This report concerns the characterization of the alpha-tocopherol transfer protein (alpha-TTP) gene in a Japanese family affected by ataxia with isolated vitamin E deficiency (AVED). The sequence analysis revealed a G-to-A transition at the 3' end of exon 3 in both alleles, which predicts outsplicing of this exon from premessenger RNA and the concomitant frame shift in the ataxic patient. We used reverse...

Read the complete abstract on PubMed

Topics

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

Share to Fibroblasts
Share to Ataxia
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cells, Cultured

Share to Mutation

Share to Transcription, Genetic

Share to Vitamin E

Source

Identifiers

PMID: 9270601
DOI: 10.1212/wnl.49.2.584

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia.PMID 9270601Read ↗

Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene.Semantic proximity Read ↗

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.Semantic proximity Read ↗

Ataxia caused by mutations in the alpha-tocopherol transfer protein gene.Semantic proximity Read ↗

Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.Semantic proximity Read ↗

A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.Semantic proximity Read ↗

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.Semantic proximity Read ↗

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.Semantic proximity Read ↗

Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress.Semantic proximity Read ↗

Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis.Semantic proximity Read ↗

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation.Semantic proximity Read ↗

MNV-aware molecular characterization of a rare homozygous TTPA complex allele in ataxia with vitamin E deficiency.Semantic proximity Read ↗

Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the α-Tocopherol–Transfer ProteinSemantic proximity Read ↗

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