Results 81 to 90 of about 13,262,735 (197)

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

Suppression of Mutant Protein Expression in SCA3 and SCA1 Mice Using a CAG Repeat-Targeting Antisense Oligonucleotide

Molecular Therapy: Nucleic Acids, 2019
Spinocerebellar ataxia type 3 (SCA3) and type 1 (SCA1) are dominantly inherited neurodegenerative disorders that are currently incurable. Both diseases are caused by a CAG-repeat expansion in exon 10 of the Ataxin-3 and exon 8 of the Ataxin-1 gene ...
Eleni Kourkouta, Rudie Weij, Anchel González-Barriga, Melissa Mulder, Ruurd Verheul, Sieto Bosgra, Bas Groenendaal, Jukka Puoliväli, Jussi Toivanen, Judith C.T. van Deutekom, Nicole A. Datson   +10 more
doaj   +1 more source

Unravelling the Significance of Cystatin C and Bunina Bodies in Amyotrophic Lateral Sclerosis Pathogenesis

Neuropathology and Applied Neurobiology, Volume 52, Issue 4, August 2026.
ABSTRACT Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), is a fatal neurodegenerative disease primarily affecting motor neurons. Two key protein inclusions found in lower motor neurons serve as neuropathological hallmarks of the disease in human tissue: the TDP43‐positive inclusion and the cystatin C‐positive Bunina body.
Sarah M. Granger, Rosemary A. Staniforth, Asbjorg Osk Snorradottir, Johnathan Cooper‐Knock, Kurt J. De Vos, J. Robin Highley   +5 more
wiley   +1 more source

A Structural Study of the Cytoplasmic Chaperone Effect of 14-3-3 Proteins on Ataxin-1

, 2021
Expansion of the polyglutamine tract in the N terminus of Ataxin-1 is the main cause of the neurodegenerative disease, spinocerebellar ataxia type 1 (SCA1).
Obsil, Tomas, Leysen, Seppe, Davis, Rachel, Nitschke, Larissa, Crabbe, Tom, Milroy, Lech-Gustav, Ottmann, Christian, Soini, Lorenzo, Adamski, Carolyn J., Milroy, Lech Gustav, Burnley, Rebecca Jane, Rodriguez, Elizabeth, Adamski, Carolyn J, Brunsveld, Lucas, Zoghbi, Huda Yahya, Davis, Jeremy Martin, Brunsveld, Lucas; id_orcid   +16 more
core   +1 more source

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice

Molecular Therapy: Nucleic Acids, 2017
Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene.
Lodewijk J.A. Toonen, Frank Rigo, Haico van Attikum, Willeke M.C. van Roon-Mom   +3 more
doaj   +1 more source

Mapping the Disrupted Connectome in Spinocerebellar Ataxia Type 3: A Network‐Based Statistics Study Identifying Novel Therapeutic Targets for Neuromodulation

CNS Neuroscience &Therapeutics, Volume 32, Issue 7, July 2026.
This study identifies a dual pattern of structural and functional connectome disruption in SCA3 that correlates with clinical severity. Importantly, these abnormal structural connectivities are modulated by TMS, establishing them as promising imaging biomarkers and therapeutic targets for precision neuromodulation intervention.
Lan Ou, Chaoyang Zhou, Xingang Wang, Linfeng Shi, Peiling Ou, Chaodong Xiang, Hui Chen, Xi Chen, Bijia Wang, Wei Chen, Jian Wang, Zhiliang Long, Chen Liu   +12 more
wiley   +1 more source

Ataxin-3 interacts directly with hHR23A and VCP/p97.

, 2012
(A) Confocal microscopy images of COS-7 cells fixed and immunostained for endogenous ataxin-3 (i-red) and hHR23A (ii-green). DNA was stained with Hoescht 33342 (blue) in the merged image (iii).
Luisa Cortes (136799), Mário N. Laço (136796), Sue M. Travis (136802), Henry L. Paulson (136809), A. Cristina Rego (136817)   +4 more
core   +1 more source

In vivo suppression of polyglutamine neurotoxicity by C-terminus of Hsp70-interacting protein (CHIP) supports an aggregation model of pathogenesis

Neurobiology of Disease, 2009
Perturbations in neuronal protein homeostasis likely contribute to disease pathogenesis in polyglutamine (polyQ) neurodegenerative disorders. Here we provide evidence that the co-chaperone and ubiquitin ligase, CHIP (C-terminus of Hsp70-interacting ...
Aislinn J. Williams, Tina M. Knutson, Veronica F. Colomer Gould, Henry L. Paulson   +3 more
doaj   +1 more source

Early‐Onset Oral Squamous Cell Carcinoma: Emerging Biological Insights, Risk Factors and Clinical Implications

Journal of Oral Pathology &Medicine, Volume 55, Issue 6, Page 629-641, July 2026.
ABSTRACT Background Early‐onset oral squamous cell carcinoma (EO‐OSCC), commonly defined as occurring in individuals under 50 years of age, is increasingly recognized as a potentially distinct clinical subset with differences in exposure patterns and tumor biology compared with conventional oral squamous cell carcinoma (OSCC).
Gennaro Musella, Cristina D'Antonio, Federica Canfora, Michele D. Mignogna, Valentino Vellone, Vito Carlo Alberto Caponio, Amerigo Giudice, Alessandro Villa, Daniela Adamo   +8 more
wiley   +1 more source

Genome-wide screen for modifiers of ataxin-3 neurodegeneration in Drosophila. [PDF]

PLoS Genetics, 2007
Spinocerebellar ataxia type-3 (SCA3) is among the most common dominantly inherited ataxias, and is one of nine devastating human neurodegenerative diseases caused by the expansion of a CAG repeat encoding glutamine within the gene.
Julide Bilen, Nancy M Bonini
doaj   +1 more source