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

Identification of a novel D109Y mutation in Cu/Zn superoxide dismutase (sod1) gene associated with amyotrophic lateral sclerosis.

Journal of the neurological sciences - 15 Mar 2007

Naini Ali, Mehrazin Mahsa, Lu Jiesheng, Gordon Paul, Mitsumoto Hiroshi

Abstract excerpt

We report a novel missense mutation (Asp109Tyr) in exon 4 of the Cu/Zn superoxide dismutase (sod1) gene in a woman with apparently sporadic amyotrophic lateral sclerosis (SALS). Signs of motor deficit appeared at the age of 51 years which progressed over the next 6 years to upper and lower motor neuron disease and death occurred by the age of 57 years. In this mutation, the base change of guanine to thymine at...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis
Share to Aspartic Acid

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

Share to Catalytic Domain

Share to Central Nervous System

Share to Fatal Outcome

Share to Superoxide Dismutase

Share to Tyrosine

Source

Identifiers

PMID: 17257622
DOI: 10.1016/j.jns.2006.12.009

Genes

SOD1

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

Identification of a novel D109Y mutation in Cu/Zn superoxide dismutase (sod1) gene associated with amyotrophic lateral sclerosis.PMID 17257622Read ↗

A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course.Semantic proximity Read ↗

Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia.Semantic proximity Read ↗

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputesSemantic proximity Read ↗

A novel p.E121G SOD1 mutation in slowly progressive form of amyotrophic lateral sclerosis induces cytoplasmic aggregates in cultured motor neurons and reduces cell viability.Semantic proximity Read ↗

Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses.Semantic proximity Read ↗

A novel SOD1 gene mutation in familial ALS with low penetrance in females.Semantic proximity Read ↗

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.Semantic proximity Read ↗

Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P).Semantic proximity Read ↗

Identification of L84F mutation with a novel nucleotide change c.255G > T in the superoxide dismutase gene in a North Indian family with amyotrophic lateral sclerosis.Semantic proximity Read ↗

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.Semantic proximity Read ↗

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