...) and amyotrophic lateral sclerosis (ALS) cases. Numerous studies have indicated the toxicity of dipeptide repeats (DPRs), which are produced via repeat-associated non-AUG (RAN) translation from the repeat expansion, and accumulate in the brain of C9FTD/ALS patients. Mouse models expressing the human C9ORF72 repeat...

... (ALS) is a neurodegenerative disease that affects both lower and upper motor neurons (MNs) in the central nervous system. ALS etiology is highly multifactorial and multifarious, and an effective treatment is still lacking. Neuroinflammation is a hallmark of ALS and could be targeted to develop new...

...Jonathan R. Volpatti; Almundher Al-Maawali; Lindsay Smith; Aqeela Al-Hashim; Julie A. Brill; James J. Dowling ABSTRACT Phosphoinositides (PIPs) are a ubiquitous group of seven low-abundance phospholipids that play a crucial role in defining localized membrane properties and that regulate myriad...

...Kriti Chaplot; Lokesh Pimpale; Balaji Ramalingam; Senthilkumar Deivasigamani; Siddhesh S. Kamat; Girish S. Ratnaparkhi ABSTRACT Familial amyotrophic lateral sclerosis (ALS) is an incurable, late-onset motor neuron disease, linked strongly to various causative genetic loci. ALS8 codes for a missense...

... . 10.1146/annurev.genom.9.081307.164224 Acevedo-Arozena , A. , Kalmar , B. , Essa , S. , Ricketts , T. , Joyce , P. , Kent , R. , Rowe , C. , Parker , A. , Gray , A. , Hafezparast , M. , et al. ( 2011 ). A comprehensive assessment of the SOD1G93A low-copy...

...Shane Wald-Altman; Edward Pichinuk; Or Kakhlon; Miguel Weil ABSTRACT Amyotrophic lateral sclerosis (ALS) is an incurable motor neurodegenerative disease caused by a diversity of genetic and environmental factors that leads to neuromuscular degeneration and has pathophysiological implications in non...

... component of the pathological inclusions observed in neurons of patients affected by different neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and fronto-temporal lobar degeneration (FTLD). The number of studies investigating the molecular mechanisms underlying neurodegeneration...

...Xiaohua Xu; Aleksandar Denic; Luke R. Jordan; Nathan J. Wittenberg; Arthur E. Warrington; Bharath Wootla; Louisa M. Papke; Laurie J. Zoecklein; Daehan Yoo; Jonah Shaver; Sang-Hyun Oh; Larry R. Pease; Moses Rodriguez ABSTRACT Amyotrophic lateral sclerosis (ALS) is a devastating, fatal neurological...

... cases for which no suitable model systems are available. Here, we have taken advantage of in vitro iPSCs derived from patients affected by amyotrophic lateral sclerosis (ALS) and carrying mutations in the RNA-binding protein FUS to study the cellular behavior of the mutant proteins in the appropriate...

... mechanisms in the central nervous system. In particular, P2X7 has been shown to be implicated in neuropsychiatry, chronic pain, neurodegeneration and neuroinflammation. Remarkably, P2X7 has also been shown to be a ‘gene modifier’ in amyotrophic lateral sclerosis (ALS): the receptor is upregulated in spinal...

... sclerosis (ALS) and hereditary spastic paraplegia (HSP). These studies indicate the power of zebrafish as a model to study the consequences of disease-related genes, because zebrafish homologues of human genes have conserved functions with respect to the aetiology of MNDs. Zebrafish also complement other...

... the potential for torsinA to serve as a buffer to attenuate the cellular consequences of misfolded-protein stress as it pertains to the neurodegenerative disease amyotrophic lateral sclerosis (ALS). The selective vulnerability of motor neurons to degeneration in ALS mouse models harboring mutations...

...Marc M. J. Da Costa; Claire E. Allen; Adrian Higginbottom; Tennore Ramesh; Pamela J. Shaw; Christopher J. McDermott Mutations in the superoxide dismutase gene ( SOD1 ) are one cause of familial amyotrophic lateral sclerosis [ALS; also known as motor neuron disease (MND)] in humans. ALS...