Results 71 to 80 of about 16,368 (183)

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72 [PDF]

, 2020
Hexanucleotide expansions in C9orf72, which encodes a predicted guanine exchange factor, are the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Albert R. La Spada, Gendron, Tania F, Don W. Cleveland, Qiang Zhu, Huaxi Xu, Zhang, Yongjie, Ravits, John, Gendron, Tania F., Somasish Ghosh Dastidar, Yongjie Zhang, John Ravits, La Spada, Albert R, Cleveland, Don W, Jiang, Lulin, Rodriguez, Maria J., Taylor, Amy, Dastidar, Somasish Ghosh, Diaz Garcia, Sandra, Melissa McAlonis-Downes, King, Patrick, Sandrine Da Cruz, Xu, Huaxi, McAlonis-Downes, Melissa, Tania F. Gendron, Da Cruz, Sandrine, Leonard Petrucelli, Ghosh Dastidar, Somasish, Garcia, Sandra Diaz, Cleveland, Don W., Lagier-Tourenne, Clotilde, Petrucelli, Leonard, Amy Taylor, Jie Jiang, Maria J. Rodriguez, Patrick King, Clotilde Lagier-Tourenne, Rodriguez, Maria J, Sandra Diaz Garcia, Zhu, Qiang, Jiang, Jie, La Spada, Albert R., Lulin Jiang   +41 more
core   +1 more source

Experimental Disease-Modifying Agents for Frontotemporal Lobar Degeneration

Journal of Experimental Pharmacology, 2021
Marcello Giunta,1 Eino Solje,2 Fabrizio Gardoni,3 Barbara Borroni,1 Alberto Benussi1 1Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; 2Institute of Clinical Medicine - Neurology, University of ...
Giunta M, Solje E, Gardoni F, Borroni B, Benussi A   +4 more
doaj  

TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics

The FEBS Journal, EarlyView.
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga, Zsolt Ráduly, Beáta Boros‐Oláh, Éva Nagy, Zsolt Karányi, László Halász, Bálint László Bálint, György Vámosi, Emese Tóth, Péter Bai, Serena Santangelo, Patrizia Bossolasco, Antonia Ratti, Vincent Géli, Yves Pommier, Lóránt Székvölgyi   +15 more
wiley   +1 more source

C9orf72 gene networks in the human brain correlate with cortical thickness in C9-FTD and implicate vulnerable cell types

Frontiers in Neuroscience
IntroductionA hexanucleotide repeat expansion (HRE) intronic to chromosome 9 open reading frame 72 (C9orf72) is recognized as the most common genetic cause of amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and ALS-FTD.
Iris J. Broce, Iris J. Broce, Daniel W. Sirkis, Ryan M. Nillo, Luke W. Bonham, Luke W. Bonham, Suzee E. Lee, Bruce L. Miller, Patricia A. Castruita, Virginia E. Sturm, Virginia E. Sturm, Leo S. Sugrue, Rahul S. Desikan, Jennifer S. Yokoyama, Jennifer S. Yokoyama, Jennifer S. Yokoyama   +15 more
doaj   +1 more source

Mini social cognition and emotional assessment: Diagnostic performance and neural correlates in behavioural‐variant frontotemporal dementia

Journal of Neuropsychology, EarlyView.
Abstract We aimed at validating the Mini Social Cognition and Emotional Assessment (Mini‐SEA) in a German cohort of mildly impaired behavioural‐variant frontotemporal dementia (bvFTD) patients and healthy controls. The Mini‐SEA comprises the Facial Emotion Recognition Test (FERT) and the Faux Pas Test (FPT) measuring Theory of Mind (ToM) abilities in ...
Cem Doğdu, Neeraj Upadhyay, Ingo Frommann, Luca Kleineidam, Andreas Johnen, Melina Stark, Sandra Roeske, Annika Spottke, Anna Gamez, Gabor C. Petzold, Louise Droste zu Senden, Julian Hellmann‐Regen, Stefan Hetzer, Klaus Fliessbach, Carolin Miklitz, Emrah Düzel, Falk Lüsebrink, Wenzel Glanz, Stefan Teipel, Ingo Kilimann, Josef Priller, Eike Jakob Spruth, Johannes Prudlo, David Mengel, Klaus Scheffler, Matthis Synofzik, Anja Schneider, Michael Wagner   +27 more
wiley   +1 more source

C9orf72 expansion disrupts ATM-mediated chromosomal break repair

, 2017
Hexanucleotide repeat expansions represent the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, though the mechanisms by which such expansions cause neurodegeneration are poorly understood.
Herranz Martín, Saúl, Walker, Callum, El-Khamisy, Sherif F.   +2 more
core   +1 more source

Identifying Co‐Expressed lncRNAs Correlated With Traits of Interest in an Animal Model for Metabolic Diseases in Humans

Animal Genetics, Volume 57, Issue 5, October 2026.
ABSTRACT Nutrigenomics investigates how nutrients modulate gene expression. Among them, fatty acids (FA) play important roles in regulating gene transcription, while long non‐coding RNAs (lncRNAs) may be associated with gene regulation and metabolic diseases.
Lucas Echevarria Nascimento, Bruna Pereira Martins da Silva, Camila Sabino de Oliveira, Mariah Castro Durval, Felipe André Oliveira Freitas, Fernanda Nery Ciconello, Izally Carvalho Gervásio, Simara Larissa Fanalli, Pablo Augusto de Souza Fonseca, Beatriz Gutiérrez‐Gil, Vivian Vezzoni de Almeida, Aline Silva Mello Cesar   +11 more
wiley   +1 more source

Additional file 1: of Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

, 2018
Table S1. Demographic, clinical and pathological diagnosis of cases used in this study; Figure S1. Further characterization of novel monoclonal C9orf72 antibodies; Figure S2.
Chieh-Yu Cheng (699537), Nicolas Charlet-Berguerand (607232), Regina Feederle (166063), Chantal Sellier (607229), R. Pasterkamp (3698353), Johannes Prudlo (673079), Julie Tahraoui-Bories (5594678), Mustapha Oulad-Abdelghani (245556), Ian Mackenzie (5472740), Manuela Neumann (120819), Dieter Edbauer (3640348), Cecile Martinat (70805), Petra Frick (4672636)   +12 more
core   +1 more source

Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c.395A>T; p.Lys132Met Mutation in CHCHD2

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Biallelic CHCHD2 variants are rare. We report a consanguineous man with a novel homozygous CHCHD2 c.395A>T (p.Lys132Met) variant who developed progressive cognitive decline, apraxia, oculomotor impairment, and pyramidal signs without parkinsonism.
Mehri Salari, Arash Soltani, Masoud Etemadifar, Kamran Rezaei   +3 more
wiley   +1 more source

Stem cell models of C9orf72-linked Frontotemporal Dementia [PDF]

, 2020
The GGGGCC repeat expansion in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (ALS). Expanded repeat-associated toxicity from either RNA foci or dipeptide protein repeats (DPRs) as well as a loss of ...
Preza, Elisavet
core   +1 more source