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 19, 2022
Review

Progranulin as a therapeutic target in neurodegenerative diseases.

Trends in Pharmacological Sciences
Herve RhinnArnon Rosenthal
January 19, 2022

Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.

Neurobiology of Aging
Genki TohnaiJapanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS)
January 17, 2022
Open Access

Short structural variants as informative genetic markers for ALS disease risk and progression.

BMC Medicine
Frances TheunissenP Anthony Akkari
January 15, 2022
Preprint
Open Access

Comprehensive preclinical evaluation of human-derived anti-poly-GA antibodies in cellular and animal models of C9ORF72 disease

BioRxiv : the Preprint Server for Biology
M. JambeauClotilde La
January 15, 2022
Review

Genetic testing in motor neurone disease.

Practical Neurology
Thanuja DharmadasaMartin R Turner
January 14, 2022

Na+/Ca2+ exchanger isoform 1 takes part to the Ca2+-related prosurvival pathway of SOD1 in primary motor neurons exposed to beta-methylamino-L-alanine.

Cell Communication and Signaling : CCS
Tiziana PetrozzielloAgnese Secondo
January 14, 2022
Open Access

Sublethal enteroviral infection exacerbates disease progression in an ALS mouse model.

Journal of Neuroinflammation
Yuan Chao XueHonglin Luo
January 13, 2022
Case Report

Familial amyotrophic lateral sclerosis induced by gene mutation of SOD1G142A: a case report.

Annals of Palliative Medicine
Xiangqin CuiYunqi Xu
January 13, 2022

Rare variants in TP73 in a Frontotemporal Dementia cohort link this gene with primary progressive aphasia phenotypes.

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Miguel Tábuas-PereiraRita Guerreiro
January 13, 2022

The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis.

Brain : a Journal of Neurology
Kristiana SalmonAngela Genge
January 13, 2022

Novel Variants in the FIG4 Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression.

Journal of Clinical Neurology
Chang-Yun LiuZhang-Yu Zou
January 12, 2022
Preprint
Open Access

Hippocampal protein aggregation signatures fully distinguish pathogenic and wildtype UBQLN2 in amyotrophic lateral sclerosis

BioRxiv : the Preprint Server for Biology
K. M. ThumbadooEmma L Scotter
January 12, 2022
Open Access

Edaravone activates the GDNF/RET neurotrophic signaling pathway and protects mRNA-induced motor neurons from iPS cells.

Molecular Neurodegeneration
Qian LiMingyao Ying
January 11, 2022
Open Access

A Deletion of the Nuclear Localization Signal Domain in the Fus Protein Induces Stable Post-stress Cytoplasmic Inclusions in SH-SY5Y Cells.

Frontiers in Neuroscience
Antonietta NotaroVincenzo La Bella
January 11, 2022
Review
Open Access

Proteinopathies as Hallmarks of Impaired Gene Expression, Proteostasis and Mitochondrial Function in Amyotrophic Lateral Sclerosis.

Frontiers in Neuroscience
Bridget C BensonGuillaume M Hautbergue
January 11, 2022
Open Access

Overlapping Genetic Architecture Between Schizophrenia and Neurodegenerative Disorders.

Frontiers in Cell and Developmental Biology
Chunyu LiHuifang Shang

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