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

Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes

16 Apr 2019

Abstract excerpt

Objective A hallmark of amyotrophic lateral sclerosis (ALS) caused by mutations in superoxide dismutase-1 ( SOD1 ) are inclusions containing SOD1 in motor neurons. Here, we searched for SOD1-positive inclusions in 29 patients carrying ALS-linked mutations in six other genes. Methods A panel of antibodies that specifically recognise misfolded SOD1 species were used for immunohistochemical investigations of autopsy...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis Research
Share to Genetic Neurodegenerative Diseases
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30992335
DOI: 10.1136/jnnp-2018-319386

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genesPMID 30992335Read ↗

An emerging role for misfolded wild-type SOD1 in sporadic ALS pathogenesisSemantic proximity Read ↗

The potential role of misfolded wild-type SOD1 protein in sporadic amyotrophic lateral sclerosis (ALS): a review of the evidence.Semantic proximity Read ↗

A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration.Semantic proximity Read ↗

Novel Antibodies Reveal Inclusions Containing Non-Native SOD1 in Sporadic ALS PatientsSemantic proximity Read ↗

A Proposed Mechanism for Neurodegeneration in Movement Disorders Characterized by Metal Dyshomeostasis and Oxidative Stress.Semantic proximity Read ↗

Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states.Semantic proximity Read ↗

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.Semantic proximity Read ↗

C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.Semantic proximity Read ↗

Misfolded SOD1 Accumulation and Mitochondrial Association Contribute to the Selective Vulnerability of Motor Neurons in Familial ALS: Correlation to Human Disease.Semantic proximity Read ↗

Protein aggregation in motor neurone disorders.Semantic proximity Read ↗

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation.Semantic proximity Read ↗

Recent advances in the genetics of the ALS-FTLD complex.Semantic proximity Read ↗

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