ELOVL5 mutations cause spinocerebellar ataxia 38.

doi:10.1016/j.ajhg.2014.07.001

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

Community

Back to search

Article

ELOVL5 mutations cause spinocerebellar ataxia 38.

American journal of human genetics - 7 Aug 2014

Di Gregorio Eleonora, Borroni Barbara, Giorgio Elisa, Lacerenza Daniela, Ferrero Marta, Lo Buono Nicola, Ragusa Neftj, Mancini Cecilia, Gaussen Marion, Calcia Alessandro, Mitro Nico, Hoxha Eriola, Mura Isabella, Coviello Domenico A, Moon Young-Ah, Tesson Christelle, Vaula Giovanna, Couarch Philippe, Orsi Laura, Duregon Eleonora, Papotti Mauro Giulio, Deleuze Jean-François, Imbert Jean, Costanzi Chiara, Padovani Alessandro, Giunti Paola, Maillet-Vioud Marcel, Durr Alexandra, Brice Alexis, Tempia Filippo, Funaro Ada, Boccone Loredana, Caruso Donatella, Stevanin Giovanni, Brusco Alfredo

Abstract excerpt

Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal-dominant neurodegenerative disorders involving the cerebellum and 23 different genes. We mapped SCA38 to a 56 Mb region on chromosome 6p in a SCA-affected Italian family by whole-genome linkage analysis. Targeted resequencing identified a single missense mutation (c.689G>T [p.Gly230Val]) in ELOVL5. Mutation screening of 456 independent...

Read the complete abstract on PubMed

Topics

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

Share to Purkinje Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Spinocerebellar Ataxias

Share to Acetyltransferases

Share to Arachidonic Acid

Share to Cerebellum

Share to Docosahexaenoic Acids

Share to Fatty Acid Elongases

Share to Golgi Apparatus

Source

Open in PubMed Open full text

Identifiers

PMID: 25065913
DOI: 10.1016/j.ajhg.2014.07.001
PMCID: PMC4129408

Genes

ELOVL5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ELOVL5 mutations cause spinocerebellar ataxia 38.PMID 25065913Read ↗

Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.Semantic proximity Read ↗

Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspotSemantic proximity Read ↗

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.Semantic proximity Read ↗

ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.Semantic proximity Read ↗

SCA38 is rare in Mainland China.Semantic proximity Read ↗

Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.Semantic proximity Read ↗

A family study and literature review of ELOVL4-associated spinocerebellar ataxia type 34Semantic proximity Read ↗

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.Semantic proximity Read ↗

The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.Semantic proximity Read ↗

W246G Mutant ELOVL4 Impairs Synaptic Plasticity in Parallel and Climbing Fibers and Causes Motor Defects in a Rat Model of SCA34Semantic proximity Read ↗

Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.Semantic proximity Read ↗

Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.Semantic proximity Read ↗

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