Results 101 to 110 of about 12,015 (253)

PRO-MINE: A Bioinformatics Repository and Analytical Tool for TARDBP Mutations [PDF]

Human Mutation, 2010
TDP-43 is a multifunctional RNA-binding protein found to be a major protein component of intracellular inclusions found in neurodegenerative disorders such as Fronto Temporal Lobar Degeneration, Amyotrophic Lateral Sclerosis, and Alzheimer Disease. PRO-MINE (PROtein Mutations In NEurodegeneration) is a database populated with manually curated data from
Pinto, Sofia, Vlahoviček, Kristian, Buratti, Emanuele   +2 more
openaire   +3 more sources

3′UTR variants of ALS‐linked RNAs modify subcellular and cellular phenotypes

The FEBS Journal, EarlyView.
Our study demonstrates that alternative 3′UTR variants of ALS‐linked transcripts modulate subcellular RNA localization and cytoskeletal architecture. NEFH 3′UTR‐Long promotes nuclear RNA clustering, while SOD1 3′UTR‐Long reduces filopodia formation. These results suggest that 3′UTRs, independent of coding sequences, can influence neuronal phenotypes ...
Melis Savasan‐Sogut, Danae Campos‐Melo, Michael J. Strong   +2 more
wiley   +1 more source

TDP-43 dysfunction leads to bioenergetic failure and lipid metabolic rewiring in human cells

Redox Biology
The dysfunction of TAR DNA-binding protein 43 (TDP-43) is implicated in various neurodegenerative diseases, though the specific contributions of its toxic gain-of-function versus loss-of-function effects remain unclear. This study investigates the impact
Miriam Ceron-Codorniu, Pascual Torres, Anna Fernàndez-Bernal, Santiago Rico-Rios, José CE. Serrano, Maria P. Miralles, Maria Beltran, Ana Garcera, Rosa M. Soler, Reinald Pamplona, Manuel Portero-Otín   +10 more
doaj   +1 more source

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. [PDF]

, 2017
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the
Annu, Kavya, Baker, Matt, Bigio, Eileen, Boylan, Kevin B., Caselli, Richard J., Dickson, Dennis W., Finger, Elizabeth, Fryer, John D., Graff-Radford, Neill R., Hirsch-Reinshagen, Veronica, Hsiung, Ging-Yuek R., Kato, Masato, Keith, Julia, Kim, Hong Joo, Krieger, Charles, Kurti, Aishe, Lacomis, David, Lippa, Carol, Mackenzie, Ian R., Matchett, Billie J., Messing, James, Mesulam, Marsel, Mittag, Tanja, Murray, Melissa E., Nicholson, Alexandra M., Perkerson, Ralph B., Petersen, Ronald C., Petrucelli, Leonard, Pottier, Cyril, Purice, Maria D., Rademakers, Rosa, Rogaeva, Ekaterina, Roos, Raymond P., Sarkar, Mohona, Stewart, Heather, Taylor, J. Paul, Temirov, Jamshid, Weintraub, Sandra, Wszolek, Zbigniew K., Zinman, Lorne, Zivkovic, Sasha A., Züchner, Stephan   +41 more
core   +2 more sources

SKALE: An Interpretable Multiscale Machine Learning Model for Decoding Phase‐Specific Protein Aggregation in Neurodegenerative Proteinopathies

Aggregate, Volume 7, Issue 2, February 2026.
Protein aggregation drives diverse degenerative diseases, yet its molecular origins are difficult to predict. SKALE uses interpretable machine learning to link sequence, structure, and dynamics, revealing how local structural weakening triggers aggregation.
Wei Xuan Wilson Loo, Jia Shen Sio, Keyin Yap, Yan Shan Loo, Hui Xuan Lim, Shuangyue Zhang, Huitao Liu, Chen Seng Ng   +7 more
wiley   +1 more source

Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study

BMC Neurology, 2022
Highlights • Different genetic levels in underrepresented FTD patients are not well understood. • We compared cognition, neuropsychiatry, and gene-atrophy overlap in FTD cases.
Hernando Santamaría-García, Natalia Ogonowsky, Sandra Baez, Nicole Palacio, Pablo Reyes, Michael Schulte, Andrea López, Diana Matallana, Agustín Ibanez   +8 more
doaj   +1 more source

Engineered Multifunctional Hydrogel Delivering Novel CBX7 Inhibitor Modulates Cuproptosis Via Liquid–Liquid Phase Separation to Restore Cardiac Function in Aged Myocardial Infarction

Advanced Science, Volume 13, Issue 1, 5 January 2026.
An age‐adapted therapy pairs δ‐Amyrenone, a CBX7 inhibitor, with an alginate hydrogel (CSAδ) to rescue infarcted elderly hearts. CSAδ disrupts CBX7–ATP7A liquid–liquid phase separation, restores ATP7A trafficking and copper efflux, suppresses cuproptosis, supplies oxygen, scavenges ROS, promotes M2 polarization, supports angiogenesis, and enhances ...
Jun Liu, Peng Qu, Jiao Shi, Tingting Liang, Yao Gu, Xue Li, Cui Ma, Danyang Zhao, Feila Liu, Qi Liang, Panke Cheng, Qian Lei   +11 more
wiley   +1 more source

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis [PDF]

, 2016
BACKGROUND: In frontotemporal dementia (FTD) there is a critical lack in the understanding of biological and molecular mechanisms involved in disease pathogenesis.
Botía, JA, Ferrari, R, Forabosco, P, Guelfi, S, Hardy, J, Momeni, P, Ryten, M, UK Brain Expression Consortium (UKBEC), Vandrovcova, J, Warren, JD, Weale, ME   +10 more
core  

Direct conversion of human pluripotent stem cells into cranial motor neurons using a piggyBac vector [PDF]

, 2018
Human pluripotent stem cells (PSCs) are widely used for in vitro disease modeling. One of the challenges in the field is represented by the ability of converting human PSCs into specific disease-relevant cell types.
De Santis, Riccardo, de Turris, Valeria, Di Angelantonio, Silvia, Garone, Maria Giovanna, Pagani, Francesca, Rosa, Alessandro   +5 more
core   +2 more sources

Unveiling the Genetic Association Between Hemoglobin Concentration and Amyotrophic Lateral Sclerosis

Brain and Behavior, Volume 16, Issue 1, January 2026.
This study identified a causal relationship between genetically predicted hemoglobin (Hb) concentration and amyotrophic lateral sclerosis (ALS) through Mendelian randomization (MR), and integrated RNA‐seq and RT‐qPCR analyses to highlight BACH1, FLVCR1, and TRIM58 as potential genes involved in this association.
Hongmei Luo, Yujie Yang, Xiaojian Cao, Chunchu Deng, Hong Chen   +4 more
wiley   +1 more source