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CREB3 gain of function variants protect against ALS

Cross-species transcriptomics on vulnerable neuronal populations unravels the transcription factor CREB3 and its regulatory network as resilience markers of ALS. Genetics and epidemiology further identify the protective rare variant CREB3R119G.

Salim Megat
Christine Marques
Caroline Rouaux
ResearchOpen Access26 Mar 2025
Nature Communications

Volume: 16, P: 1-17
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology.

Wouter van Rheenen
Rick A. A. van der Spek
Jan H. Veldink
ResearchOpen Access06 Dec 2021
Nature Genetics

Volume: 53, P: 1636-1648
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

DNA methylation quantitative trait locus (mQTL) analyses on 32,851 participants identify genetic variants associated with DNA methylation at 420,509 sites in blood, resulting in a database of >270,000 independent mQTLs.

Josine L. Min
Gibran Hemani
Caroline L. Relton
Research06 Sept 2021
Nature Genetics

Volume: 53, P: 1311-1321
Prolonged high-fat diet induces gradual and fat depot-specific DNA methylation changes in adult mice

Ramona A. J. Zwamborn
Roderick C. Slieker
Bastiaan T. Heijmans
ResearchOpen Access03 Mar 2017
Scientific Reports

Volume: 7, P: 1-9
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Wouter van Rheenen
Rick A. A. van der Spek
Jan H. Veldink
Amendments and CorrectionsOpen Access31 Jan 2022
Nature Genetics

Volume: 54, P: 361
Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

Marta F. Nabais
Tian Lin
Naomi R. Wray
ResearchOpen Access27 Feb 2020
npj Genomic Medicine

Volume: 5, P: 1-9
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Ahmad Al Khleifat
Alfredo Iacoangeli
Ammar Al-Chalabi
ResearchOpen Access28 Jan 2022
npj Genomic Medicine

Volume: 7, P: 1-8
Transgenerational modification of dopaminergic dysfunctions induced by maternal immune activation

Ulrike Weber-Stadlbauer
Juliet Richetto
Urs Meyer
ResearchOpen Access12 Sept 2020
Neuropsychopharmacology

Volume: 46, P: 404-412

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CREB3 gain of function variants protect against ALS

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

Prolonged high-fat diet induces gradual and fat depot-specific DNA methylation changes in adult mice

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

Transgenerational modification of dopaminergic dysfunctions induced by maternal immune activation

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