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

The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex

19 Oct 2018

Abstract excerpt

Understanding the molecular pathways disrupted in motor neuron diseases is urgently needed. Here, we employed CRISPR knockout (KO) to investigate the functions of four ALS-causative RNA/DNA binding proteins (FUS, EWSR1, TAF15 and MATR3) within the RNAP II/U1 snRNP machinery. We found that each of these structurally related proteins has distinct roles with FUS KO resulting in loss of U1 snRNP and the SMN complex,...

Read the complete abstract on PubMed

Topics

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

Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer
Share to RNA Research and Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30398641
DOI: 10.1093/nar/gky1093

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complexPMID 30398641Read ↗

Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and miceSemantic proximity Read ↗

Functional interaction between FUS and SMN underlies SMA-like splicing changes in wild-type hFUS miceSemantic proximity Read ↗

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.Semantic proximity Read ↗

Genetic mutations in RNA-binding proteins and their roles in ALS.Semantic proximity Read ↗

Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis.Semantic proximity Read ↗

Interplay of Spoonbill, Larp7 and survival motor neuron, in <i>Drosophila</i> model of Spinocerebellar Ataxia 8 non-coding RNA associated neurodegenerationSemantic proximity Read ↗

The Fragile X Protein Family in Amyotrophic Lateral SclerosisSemantic proximity Read ↗

FUS-SMN protein interactions link the motor neuron diseases ALS and SMA.Semantic proximity Read ↗

The intriguing case of motor neuron disease: ALS and SMA come closerSemantic proximity Read ↗

Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALSSemantic proximity Read ↗

Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular DysfunctionSemantic proximity Read ↗

A Regulatory Circuitry Between Gria2, miR-409, and miR-495 Is Affected by ALS FUS Mutation in ESC-Derived Motor Neurons.Semantic proximity Read ↗

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