Aims: Loss of nuclear TDP-43 characterises sporadic and most familial forms of amyotrophic lateral sclerosis (ALS). TDP-43 (encoded by TARDBP) has multiple roles in RNA processing. We aimed to determine whether 1) RNA splicing dysregulation is present in lower motor neurons in ALS and in a motor neu...
We performed RNA immunoprecipitation (IP) and microarray (RIP-chip) analyses to identify and compare the biological mRNA targets of two RNA-binding protein (RBP), TDP-43 and FUS, associated to cytoplasmic ribonucleoprotein (RNP) complexes of motoneuronal NSC34 cells with the final aim to unravel the...
Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterised by compromised function of the neuromuscular junction (NMJ), manifesting with fatigable muscle weakness. Mutations in MYO9A were previously identified as causative for CMS but the precise pathomechanism rema...
Using proteomic analysis, we revealed that 110 proteins were differentially expressed in NSC34-hSOD1G93A cells after ET-1 treatment in our experiments, of which 54 were up-regulated and 56 were down-regulated. Bioinformatics analysis showed that the differentially expressed proteins (DEPs) were prim...
Transactive response DNA binding protein of 43 kDa (TDP43) is a ribonucleoprotein integral to several neurodegenerative diseases. Under normal conditions, TDP43 primarily localizes in the nucleus, where it plays a crucial role in RNA metabolism. Its function necessitates shuttling between the nucleu...
