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Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.
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WB result of C9orf72 antibody (25757-1-AP, 1:250 incubated at RT for 1 hour) with si-C9orf72 HEK293 cells, C9orf72 CRISPR KO HEK293 cells; normal HEK293 cells and non-targeting control (NTC) siRNA transfected HEK293 cells as control. The ~50 kDa is the C9orf72 Long isoform. (Data from Dr Chris Webster, Postdoc in Kurt de Vos’s group at SITRAN)
C9ORF72 has a domain whith polymorphic hexanucleotide repeat (GGGGCC). The C9ORF72-hexanucleotide repeat expansions have been recently identified as genetic markers in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). The C9ORF72 repeat expansions may indicate a worse prognosis in ALS. Human C9ORF72 has some isoforms with MW 54-60 kDa and 25-30 kDa. Mouse C9orf72 has some isoforms with MW 50-60 kDa and 35 kDa. This antibody detects the N-terminal of C9orf72.