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

Loss of function mechanism in aprataxin-related early-onset ataxia.

Biochemical and biophysical research communications - 17 Sept 2004

Hirano Makito, Furiya Yoshiko, Kariya Shingo, Nishiwaki Tomohisa, Ueno Satoshi

Abstract excerpt

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is an autosomal recessive form of cerebellar ataxia that occurs most commonly in Japan but is also frequently seen in Europe. This disease is caused by mutations in the aprataxin gene, but the functions of the gene product and the pathogenic mechanism remain unclear. The present study provides experimental evidence that the histidine triad (HIT)...

Read the complete abstract on PubMed

Topics

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

Share to Sequence Homology
Share to Acid Anhydride Hydrolases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Age of Onset

Share to Ataxia

Share to Immunoblotting

Share to Immunohistochemistry

Share to Neoplasm Proteins

Share to Nuclear Proteins

Source

Identifiers

PMID: 15325241
DOI: 10.1016/j.bbrc.2004.07.135

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss of function mechanism in aprataxin-related early-onset ataxia.PMID 15325241Read ↗

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.Semantic proximity Read ↗

A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.Semantic proximity Read ↗

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.Semantic proximity Read ↗

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.Semantic proximity Read ↗

Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.Semantic proximity Read ↗

Short half-lives of ataxia-associated aprataxin proteins in neuronal cells.Semantic proximity Read ↗

Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin.Semantic proximity Read ↗

A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia.Semantic proximity Read ↗

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.Semantic proximity Read ↗

Aprataxin mutations are a rare cause of early onset ataxia in Germany.Semantic proximity Read ↗

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.Semantic proximity Read ↗

Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia.Semantic proximity Read ↗

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