MutationPolymorphism, Single NucleotideAdultBackground TAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations in TARDBP have...
(ALS) and frontotemporal lobar degeneration with ubiquitin inclusions (FTLD-U), defining a novel class of neurodegenerative conditions: the TDP-43 protein... NJ Rutherford,YJ Zhang,M Baker,... - 《Plos Genetics》 被引量: 713发表: 2008年 TDP‐43 mutation in familial amyotrophic lateral sclerosi...
developing cognitive decline during the study (https://dataportal.AnswerALS.org). A small number of individuals were ALS mutation carriers (asymptomatic ALS) without overt neurological disease (Table1). Non-ALS motor neuron disease (MND) included patients with predominantly upper MND, not formally ...
(R191Q) described by Johnson and colleagues in their ALS cohort had already been described in families with IBMPFD, and 2 other mutations from the same study (R159G and R155H) involved codons that had been found to be mutated in IBMPFD, highlighting the ability of the same mutation to ...
Poly-A binding protein-1 localization to a subset of TDP-43 inclusions in amyotrophic lateral sclerosis occurs more frequently in patients harboring an exp... Amyotrophic lateral sclerosis (ALS) is an adult-onset motor neuron disease in which the loss of spinal cord motor neurons leads to paraly...
In cellular models, SOD1 mutation results in loss of mitochondrial respiration while increasing glycolytic flux42,43. These studies emphasize the importance of understanding the interplay between differentiation state and energy metabolism in the context of ALS, but such studies have not been done. ...
TDP-43 aggregates, neurofilament, and mitochondria analyses were performed.In this study, using iPSCs-derived human MN from an ALS patient with a TDP43 G298S mutation and two sporadic ALS patients, we showed that both sporadic and familial ALS were characterized by TDP-43 aggregates in the ...
TDP-43 aggregates, neurofilament, and mitochondria analyses were performed. Results In this study, using iPSCs-derived human MN from an ALS patient with a TDP43 G298S mutation and two sporadic ALS patients, we showed that both sporadic and familial ALS were characterized by TDP-43 aggregates...
Han et al. reported that a decrease in expression of neuronal vMSP, a cleavage product of VAPB, due to mutation of VAPB/ALS8 in ALS, triggers FoxO activation, increases ATP levels, and prolongs survival in VAPB C. elegans mutants56. Zhang et al. have revealed in proteotoxic stress ...
The role of mitochondria in the pathogenesis of amyotrophic lateral sclerosis (ALS) Ultrastructural Pathology 26(1): 1-2 Guerreiro, R.J.; Schymick, J.C.; Crews, C.; Singleton, A.; Hardy, J.; Traynor, B.J. 2008: TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis...