Results 51 to 60 of about 9,658 (171)

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Emerging Perspectives on Dipeptide Repeat Proteins in C9ORF72 ALS/FTD. [PDF]

, 2021
The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is a hexanucleotide expansion in the chromosome 9 open reading frame 72 gene (C9ORF72). This hexanucleotide expansion consists of GGGGCC (G4C2) repeats
Maharjan, Niran, Schmitz, Alexander, Saxena, Smita, Pinheiro Marques, João, Oertig, Irina   +4 more
core   +1 more source

Preclinical evaluation of WVE-004, aninvestigational stereopure oligonucleotide forthe treatment of C9orf72-associated ALS or FTD

Molecular Therapy: Nucleic Acids, 2022
A large hexanucleotide (G4C2) repeat expansion in the first intronic region of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Yuanjing Liu, Amy Andreucci, Naoki Iwamoto, Yuan Yin, Hailin Yang, Fangjun Liu, Alexey Bulychev, Xiao Shelley Hu, Xuena Lin, Sarah Lamore, Saurabh Patil, Susovan Mohapatra, Erin Purcell-Estabrook, Kristin Taborn, Elena Dale, Chandra Vargeese   +15 more
doaj   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Interrelationship between the Levels of C9orf72 and Amyloid-β Protein Precursor and Amyloid-β in Human Cells and Brain Samples [PDF]

, 2018
A subset of C9orf72 repeat expansion-carrying frontotemporal dementia patients display an Alzheimer-like decrease in cerebrospinal fluid amyloid-β (Aβ) biomarker levels.
Stina Leskelä, Remes, AM, Hiltunen, M, Rauramaa, T, Ian Pike, Mikael Marttinen, Mikko Hiltunen, Huber, N, Mitra, V, Nadine Huber, Takalo, M, Leinonen, V, Mari Takalo, Vikram Mitra, Ville Leinonen, Annakaisa Haapasalo, Jussi Paananen, Petra Mäkinen, Anne M. Remes, Paananen, J, Haapasalo, A, Leskelä, S, Soininen, H, Pike, I, Mäkinen, P, Hilkka Soininen, Marttinen, M, Tuomas Rauramaa   +27 more
core   +1 more source

Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD — a Systematic Review and Meta-Analysis [PDF]

, 2021
A hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) with synaptic dysfunction identified as an early pathological hallmark.
Kaliszewska, Aleksandra, Col, Tarik Tarkan, Arias, Natalia, Allison, Joseph, Shaw, Christopher, Col, Tarik-Tarkan   +5 more
core   +2 more sources

Telomere Attrition in Induced Pluripotent Stem Cell-Derived Neurons From ALS/FTD-Related C9ORF72 Repeat Expansion Carriers

Frontiers in Cell and Developmental Biology, 2022
The GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Hayley Robinson, Sk Imran Ali, Martha Elena Diaz-Hernandez, Martha Elena Diaz-Hernandez, Rodrigo Lopez-Gonzalez   +4 more
doaj   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

UPF1 reduces C9orf72 HRE-induced neurotoxicity in the absence of nonsense-mediated decay dysfunction

Cell Reports, 2021
Summary: Multiple cellular pathways have been suggested to be altered by the C9orf72 GGGGCC (G4C2) hexanucleotide repeat expansion (HRE), including aspects of RNA regulation such as nonsense-mediated decay (NMD).
Benjamin L. Zaepfel, Zhe Zhang, Kirstin Maulding, Alyssa N. Coyne, Weiwei Cheng, Lindsey R. Hayes, Thomas E. Lloyd, Shuying Sun, Jeffrey D. Rothstein   +8 more
doaj   +1 more source

Negotiating in a Foreign Land: Understanding the Curious Interactions Between Intracellular Mitochondria and Internalized Nanoparticles

Advanced Materials Interfaces, EarlyView.
Therapeutic nano‐drug delivery systems interact with cellular mitochondria in a multitude of ways. While the complexity of such interactions disrupts the mitochondrial electron transport chain and increases reactive oxygen species production, thereby contributing to nanoparticle toxicity, they also present unique theranostic opportunities in diseases ...
Sourav Bhattacharjee
wiley   +1 more source