C9orf72 (chromosome 9 open reading frame 72) is a protein which in humans is encoded by the gene C9orf72. The human C9orf72 gene is located on the short (p) arm of chromosome 9 …

Here, we review what is known about the C9ORF72 protein, how it is affected in C9-FTD/ALS, and explore the possible contribution of haploinsufficiency to the disease pathogenesis. The …

The C9orf72 gene provides instructions for making a protein that is found in various tissues. The protein is abundant in nerve cells (neurons) in the outer layers of the brain (cerebral cortex) …

2015年1月8日 · C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72 -FTD/ALS) is characterized most often by frontotemporal dementia (FTD) and upper and lower …

2024年12月24日 · C9orf72 (C9orf72-SMCR8 Complex Subunit) is a Protein Coding gene. Diseases associated with C9orf72 include Frontotemporal Dementia And/Or Amyotrophic …

2021年5月5日 · This article reviews the current knowledge about the C9ORF72 protein, how it is affected by the repeat expansion in models and patients, and what could be the contribution of …

The C9orf72 protein is predicted to be a differentially expressed in normal and neoplastic cells domain protein implying that C9orf72 functions as a guanine nucleotide exchange factor (GEF) …

The C9orf72 hexanucleotide expansion is one of the latest discovered repeat expansion disorders related to neurodegeneration. Its association with the FTD/ALS spectrum disorders is well …

2018年8月17日 · In this article, we review the pathological and mechanistic features of C9orf72 -associated FTD and ALS (collectively termed C9FTD/ALS), the model systems used to study …

2015年9月30日 · In 2011, two groups of researchers from the National Institutes of Health and the Mayo Clinic in Jacksonville simultaneously published findings implicating a mutation in the …