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...

gene in Europe is C9orf72, followed by SOD1, TARDBP, and FUS, while the most common ALS gene in Asia is SOD1, followed by FUS, C9orf72, and TARDBP. ALS...

retardation gene 1 (FMR1) gene and Fragile X Syndrome. The C9orf72 gene codes for the protein C9orf72 which is found throughout the brain in neuronal cytoplasm...

type 17 (SCA-17), occasionally called HDL-4. Others include mutations in C9orf72, spinocerebellar ataxias type 1 and 3, neuroacanthocytosis, dentatorubral-pallidoluysian...

meaning that mutations in two or more genes are required to cause disease. C9orf72 is the most common gene associated with ALS, causing 40% of familial cases...

tau proteins and TAR DNA-binding protein 43 (TDP-43). Mutations in the C9orf72 gene have been established as a major genetic contribution of FTLD, although...

of 2019[update]) was a hexanucleotide repeat expansion in intron 1 of C9ORF72. Only one or two cases have been reported describing TARDBP (the TDP-43...

Nanda J, et al. (February 2021). "Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal...

dependent on the age. A specific hexanucleotide repeat expansion within the C9orf72 gene said to be a major cause for developing amyotrophic lateral sclerosis...

Gene loci Neurological disease APOE ε4, PICALM Alzheimer's disease C9orf72, SOD1 amyotrophic lateral sclerosis HTT Huntington's disease DR15, DQ6 Multiple...

implicated in some cases of the disease, and a mutation in chromosome 9 (C9orf72) is thought to be the most common known cause of sporadic ALS. Early diagnosis...

frontotemporal dementia are caused by hexanucleotide GGGGCC repeat sequences in the C9orf72 gene, causing RNA toxicity that leads to neurodegeneration. Repetitive...

Engelborghs, Sebastiaan; van der Zee, Julie; Van Broeckhoven, Christine (1993). "C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia". In...

Amyotrophic lateral sclerosis (ALS) Superoxide dismutase, TDP-43, FUS, C9ORF72, ubiquilin-2 (UBQLN2) Huntington's disease and other trinucleotide repeat...

SLC25A19 recessive Amyotrophic lateral sclerosis – Frontotemporal dementia C9orf72, SOD1, FUS, TARDBP, CHCHD10, MAPT 1:100,000 Angel-shaped phalango-epiphyseal...

international consortium that identified pathogenic repeat expansions in the C9orf72 gene as a common cause of ALS and FTD. Dr. Traynor also led efforts that...

expanded repeat of the hexanucleotide GGGGCC at the chromosomal locus C9ORF72. The C9ORF72 hexanucleotide repeat expansion (HRE) is capable of binding Pur-alpha...

translation of expanded hexanucleotide repeats present in an intron of the C9orf72 gene. The expansion of the hexanucleotide repeats and thus accumulation...

Nigel M.; Morris, Huw R.; Traynor, Bryan J.; Lynch, Timothy (July 2012). "C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also...

for its association to TMEM106B are those with a C90RF72 mutation (FTLD-C9ORF72). Two of the SNPs previously identified as risk factors for FTLD-GRN, rs1990622...

Šimić G (2019). "Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion". Behavioural Neurology. 2019: 2909168...

In 2022, Baldanza was diagnosed with ALS caused by a mutation in the C9orf72 gene. Associated Press (2011-07-12). "Spirit Airlines CEO Ben Baldanza...

2020 the Institute Published "Type I PRMT Inhibition Protects Against C9ORF72 Arginine-Rich Dipeptide Repeat Toxicity" in Frontiers in Pharmacology with...

further paved the way for the detection of the most common cause of ALS, the C9orf72 mutation. In 2016, Al-Chalabi and colleagues identified new risk variants...

Q8TAL5 1895 C9orf50 HGNC:23677 Q5SZB4 1896 C9orf57 HGNC:27037 Q5W0N0 1897 C9orf72 HGNC:28337 Q96LT7 1898 C9orf78 HGNC:24932 Q9NZ63 1899 C9orf85 HGNC:28784...

mechanisms involving hybrid RNA:DNA intermediates have been proposed. C9orf72 RAN translation Orr HT, Zoghbi HY (2007). "Trinucleotide repeat disorders"...

dementia, he has contributed to the discoveries of the progranulin and C9ORF72 genetic mutations as well as to the elucidation of TDP43. His research...

genuine Mendelian or monogenic disorder. Autosomal-dominant mutations in the C9orf72 and the SOD1 gene are found in a substantial number of familial ALS cases...

ALS, and one example is the expressing of C9orf72 mutation that can be introduced in mouse using the BAC C9orf72 gene with the multiple repeats of GGGGCC...

Petrucelli L, Kim HJ, Gao FB, Taylor JP (2015). "GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport". Nature. 525 (7567): 129–33. Bibcode:2015Natur...