Loss of C9orf72 function leads to autoimmunity
نویسندگان
چکیده
منابع مشابه
Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.
OBJECTIVE To define the role that repeat expansions of a GGGGCC hexanucleotide sequence of the C9orf72 gene play in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). A genetic model for ALS was developed to determine whether loss of function of the zebrafish orthologue of C9orf72 (zC9orf72) leads to abnormalities in neuronal development. MET...
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The P2X(7) receptor is a ligand-gated cation-selective channel that mediates ATP-induced apoptosis of cells of the immune system. We and others have shown that P2X(7) is nonfunctional both in lymphocytes and monocytes from some subjects. To study a possible genetic basis we sequenced DNA coding for the carboxyl-terminal tail of P2X(7). In 9 of 45 normal subjects a heterozygous nucleotide substi...
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PURPOSE OF REVIEW The molecular mechanisms that underlie chromosome 9 open reading frame 72 (C9orf72)-associated amyotrophic lateral sclerosis and frontotemporal dementia are rapidly emerging. Two potential disease mechanisms have been postulated - gain or loss of function. We provide an overview of recent advances that support or oppose gain-of-function and loss-of-function mechanisms. RECEN...
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ژورنال
عنوان ژورنال: Annals of Translational Medicine
سال: 2017
ISSN: 2305-5839,2305-5847
DOI: 10.21037/atm.2017.01.33