Results 51 to 60 of about 50,228 (212)

Emerging Perspectives on Dipeptide Repeat Proteins in C9ORF72 ALS/FTD

Frontiers in Cellular Neuroscience, 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
Alexander Schmitz, Alexander Schmitz, João Pinheiro Marques, João Pinheiro Marques, João Pinheiro Marques, Irina Oertig, Irina Oertig, Niran Maharjan, Niran Maharjan, Smita Saxena, Smita Saxena   +10 more
doaj   +1 more source

Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy

Frontiers in Genetics, 2018
Dual pathology in fragile X mental retardation 1 (FMR1) premutation carriers and fragile X–associated tremor/ataxia syndrome (FXTAS) patients is an emerging phenomenon.
Martin Paucar, Inger Nennesmo, Per Svenningsson   +2 more
doaj   +1 more source

eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated ALS

Acta Neuropathologica Communications, 2019
The discovery of an expanded (GGGGCC)n repeat (termed G4C2) within the first intron of C9orf72 in familial ALS/FTD has led to a number of studies showing that the aberrant expression of G4C2 RNA can produce toxic dipeptides through repeat-associated non ...
Lindsey D. Goodman, Mercedes Prudencio, Ananth R. Srinivasan, Olivia M. Rifai, Virginia M.-Y. Lee, Leonard Petrucelli, Nancy M. Bonini   +6 more
doaj   +1 more source

RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3

Acta Neuropathologica Communications, 2020
The most common genetic cause of amyotrophic lateral sclerosis (ALS) is a GGGGCC (G4C2) hexanucleotide repeat expansions in first intron of the C9orf72 gene.
Nandini Ramesh, Elizabeth L. Daley, Amanda M. Gleixner, Jacob R. Mann, Sukhleen Kour, Darilang Mawrie, Eric N. Anderson, Julia Kofler, Christopher J. Donnelly, Evangelos Kiskinis, Udai Bhan Pandey   +10 more
doaj   +1 more source

FMRpolyG accumulates in FMR1 premutation granulosa cells

Journal of Ovarian Research, 2020
Background Fragile X premutation (Amplification of CGG number 55–200) is associated with increased risk for fragile X-Associated Premature Ovarian Insufficiency (FXPOI) in females and fragile X-associated tremor/ataxia syndrome (FXTAS) predominantly in ...
M. Friedman-Gohas, S. E. Elizur, O. Dratviman-Storobinsky, A. Aizer, J. Haas, H. Raanani, R. Orvieto, Y. Cohen   +7 more
doaj   +1 more source

Distinct C9orf72-Associated Dipeptide Repeat Structures Correlate with Neuronal Toxicity. [PDF]

PLoS ONE, 2016
Hexanucleotide repeat expansions in C9orf72 are the most common inherited cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Brittany N Flores, Mark E Dulchavsky, Amy Krans, Michael R Sawaya, Henry L Paulson, Peter K Todd, Sami J Barmada, Magdalena I Ivanova   +7 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Salmonella lipopolysaccharide‐containing supported lipid bilayers as platforms to study bacteriophage interactions

FEBS Letters, EarlyView.
We present robust protocols for the preparation of supported lipid bilayers (SLBs) incorporating either Salmonella smooth LPS or outer membrane vesicles (OMVs). We use a combination of quartz crystal microbalance with dissipation (QCM‐D) and fluorescence microscopy to both characterize the SLBs of various compositions and to probe their interactions ...
Hudson P. Pace, Alyssa Borges, Charles Arnaud, Tove Karlsson, Nina K. Bröker, Stefanie Barbirz, Marta Bally   +6 more
wiley   +1 more source

Modelling stem cell differentiation related processes—A practical overview for biologists

FEBS Letters, EarlyView.
Stem cell differentiation is complex and difficult to control experimentally. This review introduces suitable computational modelling approaches that can support stem cell research, from mechanistic ODE and abstract models to multiscale and deep learning methods.
Ricco Zeegelaar, Xinqi Yan, Lucas Jansen Klomp, Stefano Schivo, Janine N. Post   +4 more
wiley   +1 more source

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

Cell Reports, 2020
Summary: A G4C2 hexanucleotide repeat expansion in an intron of C9orf72 is the most common cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS).
Tiffany W. Todd, Zachary T. McEachin, Jeannie Chew, Alexander R. Burch, Karen Jansen-West, Jimei Tong, Mei Yue, Yuping Song, Monica Castanedes-Casey, Aishe Kurti, Judith H. Dunmore, John D. Fryer, Yong-Jie Zhang, Beatriz San Millan, Susana Teijeira Bautista, Manuel Arias, Dennis Dickson, Tania F. Gendron, María-Jesús Sobrido, Matthew D. Disney, Gary J. Bassell, Wilfried Rossoll, Leonard Petrucelli   +22 more
doaj   +1 more source