Project description:Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative condition characterized by loss of motor neurons in the brain and spinal cord. Expansions of a hexanucleotide repeat (GGGGCC) in the noncoding region of the C9ORF72 gene are the most common cause of the familial form of ALS (C9-ALS), as well as frontotemporal lobar degeneration and other neurological diseases. How the repeat expansion causes disease remains unclear, with both loss of function (haploinsufficiency) and gain of function (either toxic RNA or protein products) proposed. We report a cellular model of C9-ALS with motor neurons differentiated from induced pluripotent stem cells (iPSCs) derived from ALS patients carrying the C9ORF72 repeat expansion. No significant loss of C9ORF72 expression was observed, and knockdown of the transcript was not toxic to cultured human motor neurons. Transcription of the repeat was increased, leading to accumulation of GGGGCC repeat–containing RNA foci selectively in C9-ALS iPSC-derived motor neurons. Repeat-containing RNA foci colocalized with hnRNPA1 and Pur-?, suggesting that they may be able to alter RNA metabolism. C9-ALS motor neurons showed altered expression of genes involved in membrane excitability including DPP6, and demonstrated a diminished capacity to fire continuous spikes upon depolarization compared to control motor neurons. Antisense oligonucleotides targeting the C9ORF72 transcript suppressed RNA foci formation and reversed gene expression alterations in C9-ALS motor neurons. These data show that patient-derived motor neurons can be used to delineate pathogenic events in ALS. Transcriptome profiling from iPSC derived motor neurons compared to controls

2013-11-07 | E-GEOD-52202 | biostudies-arrayexpress

mRNAseq in SBMA and control iPSC-derived motor neurons

Project description:mRNAseq in SBMA and control iPSC-derived motor neurons

| PRJNA597753 | ENA

Quantitative comparison between cellular mRNAs and exosomal mRNAs in human iPSC-derived motor neurons

Project description:The order in the abundance of exosomal mRNAs was not the same with that of the source cellular mRNAs in human iPSC-derived motor neurons.

2019-07-30 | GSE135047 | GEO

CHCHD2 gene KO effect in iPSC drived motor neurons

Project description:We investigate the transcriptional changes caused by the knock-out of neuropathy linked gene CHCHD2.

2019-11-07 | GSE133764 | GEO

CHCHD10 gene KO effect in iPSC drived motor neurons

Project description:We investigate the transcriptional changes caused by the knock-out of neuropathy linked gene CHCHD10.

2019-11-07 | GSE133763 | GEO

Microglia influence neurofilament deposition in ALS iPSC-derived motor neurons

Project description:Microglia influence neurofilament deposition in ALS iPSC-derived motor neurons

| PRJNA793030 | ENA

Longitudinal and transversal comparison of iPSC-derived ALS_C9orf72 and healthy motor neurons at DIV21 and DIV42

Project description:We performed total RNA sequencing in order to gain insights into the transcriptional differences between iPSC-derived ALS-diseased (2 patient cell lines, each harboring a C9orf72-mutation) and healthy (2 control cell lines) motor neurons at two different time points. Furthermore, we compared the transcriptomes of each genotype between the two time points to uncover alterations in neuronal maturation in ALS_C9orf72 motor neurons.

2022-04-27 | GSE201407 | GEO

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