Results 91 to 100 of about 19,027,943 (182)
Cerebellum, 2022 Untranslated regions are involved in the regulation of transcriptional and post-transcriptional processes. Characterization of these regions remains poorly explored for ATXN3, the causative gene of Machado-Joseph disease (MJD).
Ana Rosa Vieira Melo +7 more
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 +2 more
wiley +1 more source
Structural insights into the activity and regulation of human Josephin-2
Journal of Structural Biology: X, 2019 The MJD family of human deubiquitinating enzymes contains four members: Ataxin-3, the ataxin-3-like protein (AT3L), Josephin-1, and Josephin-2. All share a conserved catalytic unit known as the Josephin domain.
Kimberly C. Grasty +2 more
doaj +1 more source
Advanced Science, Volume 13, Issue 43, 3 August 2026.HNRNPD promotes radioresistance in nasopharyngeal carcinoma by enhancing stress granule assembly and sequestering GRAMD4 mRNA. This suppresses GRAMD4 translation and inhibits mitochondrial apoptosis. Targeting the integrated stress response with ISRIB restores GRAMD4 expression and sensitizes tumors to radiotherapy, revealing a translational control ...
Yingzi Li +13 more
wiley +1 more source
The Journal of Gene Medicine, Volume 28, Issue 8, August 2026.Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease for which there is currently no known cure. This systematic review explores the efficacy of genetic therapies used to target ALS in preclinical studies using in vivo rodent models. Outcomes investigated include the total number of motor neurons, rodent survival, and muscle function
Hannah E. Wedgwood +2 more
wiley +1 more source
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 +10 more
doaj +1 more source
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 +5 more
wiley +1 more source
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 +3 more
doaj +1 more source
FMRP‐Mediated Proteasome Regulation: A Novel Mechanism in ALS Pathology
The FASEB Journal, Volume 40, Issue 13, 15 July 2026.Schematic model of TDP‐43/TNKS‐mediated proteasome regulation in WT, FMRP‐depleted, and TDP‐43A315T‐Tg ALS neurons. In WT neurons, cytoplasmic TDP‐43 partially sequesters TNKS, maintaining balanced PI31 ribosylation and proteasome activity. FMRP depletion promotes nuclear translocation of TDP‐43, enhances TNKS/PI31 interaction, and increases axonal ...
Pritha Majumder +5 more
wiley +1 more source
Ataxin-3 Is a Multivalent Ligand for the Parkin Ubl Domain
Biochemistry, 2013 The ubiquitin signaling pathway consists of hundreds of enzymes that are tightly regulated for the maintenance of cell homeostasis. Parkin is an E3 ubiquitin ligase responsible for conjugating ubiquitin onto a substrate protein, which itself can be ubiquitinated.
Bai, Jane J. +4 more
openaire +2 more sources