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

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.

Proceedings of the National Academy of Sciences of the United States of America - 18 Nov 2008

Ferdinandusse Sacha, Zomer Anna W M, Komen Jasper C, van den Brink Christina E, Thanos Melissa, Hamers Frank P T, Wanders Ronald J A, van der Saag Paul T, Poll-The Bwee Tien, Brites Pedro

Abstract excerpt

Refsum disease is caused by a deficiency of phytanoyl-CoA hydroxylase (PHYH), the first enzyme of the peroxisomal alpha-oxidation system, resulting in the accumulation of the branched-chain fatty acid phytanic acid. The main clinical symptoms are polyneuropathy, cerebellar ataxia, and retinitis p...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Automation
Share to Central Nervous System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dietary Supplements

Share to Peripheral Nervous System Diseases

Share to Purkinje Cells

Share to Spermatogonia

Source

Open in PubMed Open full text

Identifiers

PMID: 19004801
DOI: 10.1073/pnas.0806066105
PMCID: PMC2584743

Genes

PHYH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19004801-2026-09-02.2. 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

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.PMID 19004801Read ↗

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.Semantic proximity Read ↗

Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.Semantic proximity Read ↗

Osteoarticular changes in Refsum’s disease: a case reportSemantic proximity Read ↗

Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.Semantic proximity Read ↗

Zdhhc13-dependent Drp1 S-palmitoylation impacts brain bioenergetics, anxiety, coordination and motor skills.Semantic proximity Read ↗

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).Semantic proximity Read ↗

Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.Semantic proximity Read ↗

Hyperspiny Purkinje cell, a new neurological mutation in the mouse.Semantic proximity Read ↗

Identification of PEX7 as the second gene involved in Refsum disease.Semantic proximity Read ↗

Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase.Semantic proximity Read ↗

Phenotypical, genotypical and pathological characterization of the moonwalker mouse, a model of ataxia.Semantic proximity Read ↗

Parl Deficiency in Mouse Causes Coenzyme Q Depletion, Complex III Defects, and Leigh-like SyndromeSemantic proximity Read ↗

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