Results 131 to 140 of about 21,720 (221)

G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo [PDF]

, 2017
Intronic GGGGCC repeat expansions in C9orf72 are the most common known cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), which are characterised by degeneration of cortical and motor neurons, respectively.
Abdelkarim, S, Balendra, R, Boykin, DW, Calvo, A, Chio, A, Clarke, M, Clayton, EL, Farahat, AA, Fratta, P, Gilbert-Jaramillo, J, Heslegrave, A, Houlden, H, Isaacs, AM, Ismail, MA, Konrad, M-T, Mitchell, JS, Moens, TG, Neidle, S, Niccoli, T, Nicoll, AJ, Parkinson, G, Partridge, L, Patani, R, Polke, JM, Preza, E, Simone, R, Stephens, CE, Vo, T, Wilson, KM, Wilson, WD, Woodling, NS, Wray, S, Zetterberg, H   +32 more
core   +1 more source

Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog

Scientific Reports, 2017
A hexanucleotide repeat expansion in the C9orf72 gene is the most common cause of inherited forms of the neurodegenerative disease amyotrophic lateral sclerosis (ALS).
Abraham J. Langseth, Juhyun Kim, Janet E. Ugolino, Yajas Shah, Ho-Yon Hwang, Jiou Wang, Dwight E. Bergles, Solange P. Brown   +7 more
doaj   +1 more source

Promotion of asthenozoospermia by C9orf72 through suppression of spermatogonia activity via fructose metabolism and mitophagy

Open Medicine
To investigate the involvement of C9orf72 in asthenozoospermia and its effects on spermatogonial energy metabolism and mitophagy.
Lu Hui, Xu Dongchuan, Zhao Liqiang, Ruan Hailing, Wang Anguo, Li Yejuan, Lu Weiying   +6 more
doaj   +1 more source

Evaluating the role of the Hippo pathway in the onset and disease progression of the SOD1 mouse model of amyotrophic lateral sclerosis [PDF]

, 2016
The Hippo pathway is a cell signaling pathway involved in organ size regulation and tumorigenesis in mammals. This pathway regulates the activity of Yes-associated protein (YAP), a transcriptional coactivator which binds to the transcription factor TEAD ...
Granucci, Eric
core   +1 more source

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies [PDF]

, 2014
OBJECTIVE: In many cases where Huntington disease (HD) is suspected, the genetic test for HD is negative: these are known as HD phenocopies. A repeat expansion in the C9orf72 gene has recently been identified as a major cause of familial and sporadic ...
Adamson, G, Beck, J, Campbell, T, Haworth, A, Hehir, J, Houlden, H, McColgan, P, Mead, S, Moss, DJH, Mudanohwo, E, Polke, JM, Poulter, M, Sweeney, MG, Tabrizi, SJ, Wild, EJ   +14 more
core  

C9orf72 Gene [PDF]

, 2020
openaire   +1 more source

C9orf72 wt Allele [PDF]

, 2020
openaire   +1 more source

Issue Information

Brain Pathology, Volume 36, Issue 3, May 2026.
wiley   +1 more source

C9ORF72 in Japanese amyotrophic lateral sclerosis (ALS)

Rinsho Shinkeigaku, 2013
Recently, C9orf72 hexanucleotide (GGGGCC) repeat expansion in intron 1 was reported to be the most common cause of sporadic and familial amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) in the Caucasian population. The frequency of the intronic repeat expansion is up to 21%-57% in familial ALS and 3%-21% in sporadic ALS.In the Japanese
openaire   +3 more sources

Uncharacterized Protein C9orf72 [PDF]

, 2020
openaire   +1 more source