Results 81 to 90 of about 21,720 (221)

Identification of selective and non-selective C9ORF72 targeting in vivo active siRNAs

Molecular Therapy: Nucleic Acids
A hexanucleotide (G4C2) repeat expansion (HRE) within intron one of C9ORF72 is the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
James W. Gilbert, Zachary Kennedy, Bruno M.D.C. Godinho, Ashley Summers, Alexandra Weiss, Dimas Echeverria, Brianna Bramato, Nicholas McHugh, David Cooper, Ken Yamada, Matthew Hassler, Hélène Tran, Fen Biao Gao, Robert H. Brown, Jr., Anastasia Khvorova   +14 more
doaj   +1 more source

Gray matter changes in asymptomatic C9orf72 and GRN mutation carriers

NeuroImage: Clinical, 2018
Frontotemporal dementia (FTD) is a neurodegenerative disease with a strong genetic basis. Understanding the structural brain changes during pre-symptomatic stages may allow for earlier diagnosis of patients suffering from FTD; therefore, we investigated ...
Karteek Popuri, Emma Dowds, Mirza Faisal Beg, Rakesh Balachandar, Mahadev Bhalla, Claudia Jacova, Adrienne Buller, Penny Slack, Pheth Sengdy, Rosa Rademakers, Dana Wittenberg, Howard H. Feldman, Ian R. Mackenzie, Ging-Yuek R. Hsiung   +13 more
doaj   +1 more source

C9orf72/ALFA-1 controls TFEB/HLH-30-dependent metabolism through dynamic regulation of Rag GTPases.

PLoS Genetics, 2020
Nutrient utilization and energy metabolism are critical for the maintenance of cellular homeostasis. A mutation in the C9orf72 gene has been linked to the most common forms of neurodegenerative diseases that include amyotrophic lateral sclerosis (ALS ...
Yon Ju Ji, Janet Ugolino, Tao Zhang, Jiayin Lu, Dohoon Kim, Jiou Wang   +5 more
doaj   +1 more source

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration. [PDF]

, 2019
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with loss of nuclear transactive response DNA-binding protein 43 (TDP-43).
Artates, Jon W, Baughn, Michael W, Beccari, Melinda S, Bennett, C Frank, Cleveland, Don W, Da Cruz, Sandrine, Drenner, Kevin, Freyermuth, Fernande, Lagier-Tourenne, Clotilde, Lin, Nianwei, López-Erauskin, Jone, McMahon, Moira A, Melamed, Ze'ev, Ohkubo, Takuya, Ravits, John, Rigo, Frank, Rodriguez, Maria, Sun, Ying, Wu, Dongmei, Zhang, Ouyang   +19 more
core  

Structure and possible function of a G-quadruplex in the long terminal repeat of the proviral HIV-1 genome [PDF]

, 2016
open8The long terminal repeat (LTR) of the proviral human immunodeficiency virus (HIV)-1 genome is integral to virus transcription and host cell infection.

core   +1 more source

Biochemical and Immunohistochemical Associations of TDP‐43 and Cryptic RNA With Hippocampal and Amygdala Volumetrics in Alzheimer's Disease

Annals of Neurology, EarlyView.
Objective Immunohistochemically (IHC) measured transactive response DNA‐binding protein 43 (TDP‐43) inclusions are observed in Alzheimer's disease (AD) and are associated with medial temporal lobe atrophy. Accumulation of cryptic exons occurs in AD in response to TDP‐43 pathology.
Hossam Youssef, Rodolfo G. Gatto, Nikhil B. Ghayal, Virginia Estades Ayuso, Karen R. Jansen‐West, Judith A. Dunmore, Yuping Song, Mei Yue, Casey N. Cook, Michael DeTure, Bailey D. Rawlinson, Monica Castanedes‐Casey, Clifford R. Jack Jr, Ronald C. Petersen, Dennis W. Dickson, Leonard Petrucelli, Jennifer L. Whitwell, Mercedes Prudencio, Keith A. Josephs   +18 more
wiley   +1 more source

C9orf72 poly-GA proteins impair neuromuscular transmission

Zoological Research, 2023
Amyotrophic lateral sclerosis (ALS) is a devastating motoneuron disease, in which lower motoneurons lose control of skeletal muscles. Degeneration of neuromuscular junctions (NMJs) occurs at the initial stage of ALS. Dipeptide repeat proteins (DPRs) from G4C2 repeat-associated non-ATG (RAN) translation are known to cause C9orf72-associated ALS (C9-ALS).
Tu, Wen-Yo, Xu, Wentao, Zhang, Jianmin, Qi, Shuyuan, Bai, Lei, Shen, Chengyong, Zhang, Kejing   +6 more
openaire   +2 more sources

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

Acta Neuropathologica Communications, 2019
The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained.
Dennis W. Dickson, Matthew C. Baker, Jazmyne L. Jackson, Mariely DeJesus-Hernandez, NiCole A. Finch, Shulan Tian, Michael G. Heckman, Cyril Pottier, Tania F. Gendron, Melissa E. Murray, Yingxue Ren, Joseph S. Reddy, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman, Keith A. Josephs, Leonard Petrucelli, Björn Oskarsson, John W. Sheppard, Yan W. Asmann, Rosa Rademakers, Marka van Blitterswijk   +22 more
doaj   +1 more source

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. [PDF]

PLoS ONE, 2013
A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known.
Carol Dobson-Stone, Marianne Hallupp, Clement T Loy, Elizabeth M Thompson, Eric Haan, Carolyn M Sue, Peter K Panegyres, Cristina Razquin, Manuel Seijo-Martínez, Ramon Rene, Jordi Gascon, Jaume Campdelacreu, Birgit Schmoll, Alexander E Volk, William S Brooks, Peter R Schofield, Pau Pastor, John B J Kwok   +17 more
doaj   +1 more source

C9orf72 plays a central role in Rab GTPase-dependent regulation of autophagy [PDF]

, 2016
A GGGGCC hexanucleotide repeat expansion in the first intron of the C9orf72 gene is the most common genetic defect associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (C9ALS/FTD).
De Vos, K., Grierson, A.J., Smith, E.F., Webster, C.P.   +3 more
core   +1 more source