ALS: Genetics

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

January 10, 2021

Longitudinal changes in network homogeneity in presymptomatic C9orf72 mutation carriers

Neurobiology of Aging
Rebecca E WaughMary Kay Floeter
January 8, 2021

Cytoplasmic granule formation by FUS-R495X is attributable to arginine methylation in all Gly-rich, RGG1 and RGG2 domains

Genes to Cells : Devoted to Molecular & Cellular Mechanisms
Daiki KawaharaTadashi Nakaya
December 18, 2020
Open Access

Alzheimer's, Parkinson's Disease and Amyotrophic Lateral Sclerosis Gene Expression Patterns Divergence Reveals Different Grade of RNA Metabolism Involvement

International Journal of Molecular Sciences
Maria GarofaloStella Gagliardi
December 22, 2020

Novel SOD1 Monoclonal Antibodies against the Electrostatic Loop Preferentially Detect Misfolded SOD1 Aggregates

Neuroscience Letters
Yuxing XiaBenoit I Giasson
January 9, 2021
Open Access

Exifone Is a Potent HDAC1 Activator with Neuroprotective Activity in Human Neuronal Models of Neurodegeneration

ACS Chemical Neuroscience
Debasis PatnaikStephen J Haggarty
January 16, 2021

Direct Observation of β-Barrel Intermediates in the Self-Assembly of Toxic SOD128-38 and Absence in Nontoxic Glycine Mutants

Journal of Chemical Information and Modeling
Yunxiang SunFeng Ding
December 17, 2020

Exposure of β6/β7-Loop in Zn/Cu Superoxide Dismutase (SOD1) Is Coupled to Metal Loss and Is Transiently Reversible During Misfolding

ACS Chemical Neuroscience
Shamchal BakavayevStanislav Engel
December 18, 2020
Open Access

Resting State Functional Connectivity Is Decreased Globally Across the C9orf72 Mutation Spectrum

Frontiers in Neurology
Rachel F Smallwood ShoukryMary Kay Floeter
January 8, 2021
Preprint
Open Access

Identification of hub molecules of FUS-ALS by Bayesian gene regulatory network analysis of iPSC model: iBRN

BioRxiv : the Preprint Server for Biology
M. NogamiHideyuki Okano
January 20, 2021
Review

SOD1 oligomers in amyotrophic lateral sclerosis

Current Opinion in Structural Biology
Esther S Choi, Nikolay V Dokholyan
December 18, 2020
Open Access

Amyotrophic Lateral Sclerosis: Proteins, Proteostasis, Prions, and Promises

Frontiers in Cellular Neuroscience
Luke McAlaryNeil R Cashman
January 6, 2021
Review

Formaldehyde and Brain Disorders: A Meta-Analysis and Bioinformatics Approach

Neurotoxicity Research
Iemaan RanaLuoping Zhang
December 16, 2020
Preprint
Open Access

Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulation.

BioRxiv : the Preprint Server for Biology
I. Sanjuan-RuizLuc Dupuis
January 9, 2021
Open Access

Genetic analysis of ALS cases in the isolated island population of Malta

European Journal of Human Genetics : EJHG
Rebecca BorgRuben J Cauchi

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