1. Overview and Causes of Frontotemporal Dementia (FTD) - What is FTD? Frontotemporal dementia (FTD) is a group of disorders resulting from progressive damage to the frontal and temporal lobes of the brain. Unlike Alzheimer's disease, which primarily affects memory, FTD mostly impairs behavior, ...
et al. Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease. Sci. Transl Med. 8, 347ra93 (2016). Article PubMed PubMed Central CAS Google Scholar Komatsu, M. et al. Loss of autophagy in the central nervous system causes neurodegeneration in mice. ...
Capturing risks and disease-causing pathology in somatic cells, which are already present in the preclinical stages in hereditary or sporadic neurodegenerative diseases, has been challenging4. This can be due to the relative inaccessibility of samples from presymptomatic patients or the lack of dynamic ...
Of note, regulators of autophagy and protein homeostasis represent a major class of ALS/FTD disease genes, suggesting that a diminished ability of the cell to clear misfolded and aggregating proteins causes increased toxicity. Taken together, these observations point to misfolded proteins and aggregate...
近日,省部共建非人灵长类生物医学国家重点实验室/昆明理工大学灵长类转化医学研究院牛昱宇/季维智课题组与美国麻省总医院的高光坪团队在Neurobiology of Disease上联合发表了题为“C9orf72 poly(PR) aggregation in nucleus induces A...
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook FTD Dictionary Medical Idioms Wikipedia Category filter:Show All (60)Most Common (0)Technology (6)Government & Military (18)Science & Medicine (18)Business (15)Organizations (3)Slang / Jargon (14) ...
Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagyUbiquitylationPhosphorylationCCNFCyclin FAmyotrophic lateral sclerosisFrontotemporal dementiaMotor neuron diseaseAmyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal ...
Journal of Alzheimer’s Disease, 36(1), 57–66. PubMed Google Scholar DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., et al. (2011). Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome ...
To date, therapeutic strategies to target C9 ALS/FTD repeat RNAs have focused on targeting the sense G4C2repeat transcripts12,13,14,15,16, however, there is a considerable and growing body of evidence that supports the contribution of the antisense strand to C9 ALS/FTD disease pathogenesis17...
that make up the gene for a protein called huntingtin repeats many more times than normal. These repeats can be used to predict whether someone will develop the illness and even when their symptoms are likely to appear, because the more repeats in the gene, the earlier the onset of disease...