Results 41 to 50 of about 341,259 (167)

PML as a neuroprotective guardian: Leveraging nuclear protein quality control to mitigate neurotoxicity of an ALS‐associated NEK1 variant

The FEBS Journal, EarlyView.
Insoluble protein aggregates are a hallmark of neurodegenerative diseases like amyotrophic lateral sclerosis (ALS). The ubiquitin–proteasome system (UPS) serves as a neuroprotective quality control mechanism that clears aggregates. PML nuclear bodies (NBs) were proposed to serve as hubs for SUMO‐primed ubiquitylation and degradation of misfolded ...
Tabea Stark, Stefan Müller
wiley   +1 more source

ESSENTIAL TREMOR WITHIN THE BROADER CONTEXT OF OTHER FORMS OF CEREBELLAR DEGENERATION

Cerebellum, 2020
Essential tremor (ET) has recently been reconceptualized by many as a degenerative disease of the cerebellum. Until now, though, there has been no attempt to frame it within the context of these diseases.
E. Louis, P. Faust
semanticscholar   +1 more source

Stimulating proteasomal degradation in human proteinopathies

The FEBS Journal, EarlyView.
The proteasome mediates the degradation of a wide range of proteins. Boosting proteasomal degradation may be beneficial in several disease contexts and can be achieved either by modulating proteasome activity or by improving substrate delivery. Proteasome activity can be enhanced by increasing proteasome abundance, inducing constitutive gate opening ...
Maria E. Gierisch, Enrica Barchi, Nico P. Dantuma   +2 more
wiley   +1 more source

Effects of curcumin on mitochondria in neurodegenerative diseases

Biofactors, 2019
Neurodegenerative diseases (NDs) result from progressive deterioration of selectively susceptible neuron populations in different central nervous system (CNS) regions.
H. Bagheri, F. Ghasemi, G. Barreto, R. Rafiee, T. Sathyapalan, A. Sahebkar   +5 more
semanticscholar   +1 more source

Cognitive and motor reserve in Parkinson's disease: Two sides of the same coin?

Journal of Neuropsychology, EarlyView.
Abstract Cognitive reserve (CR) and motor reserve (MR) are constructs that can explain why some people are more resilient than others to neurodegenerative diseases such as Parkinson's disease (PD). However, it is unclear whether these reserves exert domain‐specific or cross‐domain influences.
Isabella Anzuino, Sonia Di Tella, Alice Tondinelli, Clio Scopetani Testa, Martina Petracca, Maria Rita Lo Monaco, Anna Rita Bentivoglio, Maria Caterina Silveri   +7 more
wiley   +1 more source

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley   +1 more source

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report

BMC Neurology
Background Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases.
Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Pauline Planté-Bordeneuve, Eugénie Mutez, Vincent Huin   +5 more
doaj   +1 more source

Sjögren: unique surname, two men, four syndromes and one disease

Arquivos de Neuro-Psiquiatria
Henrik and Torsten Sjögren (/ˈʃoʊɡrən/ or SHOH–grən) were two Swedish physicians living in the same period, but completely unrelated, except for their notable contributions to Medicine. The first one described keratoconjunctivitis sicca, afterward called
José Vitor Alécio Rodrigues, Fábio Antônio Serra de Lima, Daniel Pereira Maurício de Barros, Gustavo Leite Franklin, Adriana Meira Tiburtino Nepomuceno, Alessandra de Sousa Braz, Hélio A. G. Teive, Alex T. Meira   +7 more
doaj   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1452-1466, July 2026.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, Volume 13, Issue 37, 3 July 2026.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source