Results 81 to 90 of about 19,027,943 (182)

A Severity‐Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA‐Ataxia

Movement Disorders, EarlyView.
Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited neurodegenerative disease characterized by progressive loss of motor coordination. Objectives We undertook a multisite magnetic resonance imaging study to profile the spatial spread of atrophy across the brain, determine whether atrophy preferentially maps onto specific functional ...
Jason W. Robertson, Isaac Adanyeguh, David J. Arpin, Tetsuo Ashizawa, Benjamin Bender, Fernando Cendes, Xi Chen, Giulia Coarelli, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Jennifer Faber, for the ESMI MR Study Group, Juan Fernandez‐Ruiz, Mónica Ferreira, Marcondes C. França, Sophia L. Göricke, Shuo Han, Thomas Klockgether, Chen Liu, Jun Luo, Alberto R.M. Martinez, Sergio E. Ono, Chiadi U. Onyike, Gülin Öz, for the EUROSCA MR Study Group, Henry Paulson, Jerry L. Prince, Kathrin Reetz, Thiago J.R. Rezende, Matthis Synofzik, Hélio A. Ghizoni Teive, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, David Vaillancourt, Bart van de Warrenburg, Judith van Gaalen, Xingang Wang, Philipp Wegner, Sarah H. Ying, Ian H. Harding, Carlos R. Hernandez‐Castillo   +43 more
wiley   +1 more source

Polyglutamine-induced neurodegeneration in SCA3 is not mitigated by non-expanded ataxin-3: Conclusions from double-transgenic mouse models

Neurobiology of Disease, 2010
A crucial question in polyQ-induced neurodegeneration is the influence of wild type protein on the formation of aggregates and toxicity. Recently it was shown that non-expanded ataxin-3 protein mitigated neurodegeneration in a Drosophila and mouse model ...
Jeannette Hübener, Olaf Riess
doaj   +1 more source

Novel polyglutamine model uncouples proteotoxicity from aging. [PDF]

PLoS ONE, 2014
Polyglutamine expansions in certain proteins are the genetic determinants for nine distinct progressive neurodegenerative disorders and resultant age-related dementia.
Nakeirah T M Christie, Amy L Lee, Hannah G Fay, Amelia A Gray, Elise A Kikis   +4 more
doaj   +1 more source

A comprehensive review of cancer‐induced cardiac wasting

British Journal of Pharmacology, EarlyView.
Cancer is frequently accompanied by cachexia, a systemic syndrome characterized by progressive loss of skeletal muscle mass, with or without loss of fat mass. Increasing evidence indicates that cancer can also induce cardiac muscle wasting, which is associated with structural cardiac remodelling, impaired contractile function and the development of ...
Alessia Lena, Muhammad Shahzeb Khan, Ulrich Keller, Lars Bullinger, Dominik P. Modest, Markus S. Anker   +5 more
wiley   +1 more source

PIAS1 S510G variant acts as a genetic modifier of spinocerebellar ataxia type 3 by selectively impairing mutant ataxin-3 proteostasis.

International Journal of Biochemistry and Cell Biology
Dysregulated protein homeostasis, characterized by abnormal protein accumulation and aggregation, is a key contributor to the progression of neurodegenerative disorders such as Huntington's disease and spinocerebellar ataxia type 3 (SCA3).
Yi-Ching Chang, Y-C. Tsai, En-Cheng Chang, Yun-Chien Hsu, Yi-Ru Huang, Y. Lee, Yu-Shuen Tsai, Yin-Quan Chen, Yi-Chung Lee, Yi-Chu Liao, Jean-Cheng Kuo, Ming-Tsan Su, Ueng-Cheng Yang, Y. Chern, Tzu-Hao Cheng   +14 more
semanticscholar   +1 more source

Dual IRE1 targets: Determinants of the cell fate?

The FEBS Journal, EarlyView.
IRE1 is an ER stress sensor that restores protein homeostasis through two signaling activities: XBP1s, which upregulates its target gene expression or RIDD which downregulates its target transcripts. We recently identified Dual IRE1 Targets (DIT) which are modulated by both XBP1s and RIDD activities.
Eva Billat, Léane Legrand, Tony Avril, Elodie Lafont   +3 more
wiley   +1 more source

Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease. [PDF]

PLoS ONE, 2008
Recent studies have demonstrated that RNAi is a promising approach for treating autosomal dominant disorders. However, discrimination between wild-type and mutant transcripts is essential, to preserve wild-type expression and function.
Sandro Alves, Isabel Nascimento-Ferreira, Gwennaëlle Auregan, Raymonde Hassig, Noëlle Dufour, Emmanuel Brouillet, Maria C Pedroso de Lima, Philippe Hantraye, Luís Pereira de Almeida, Nicole Déglon   +9 more
doaj   +1 more source

A Novel Calpain Inhibitor Compound Has Protective Effects on a Zebrafish Model of Spinocerebellar Ataxia Type 3

Cells, 2021
Spinocerebellar ataxia type 3 (SCA3) is a hereditary ataxia caused by inheritance of a mutated form of the human ATXN3 gene containing an expanded CAG repeat region, encoding a human ataxin-3 protein with a long polyglutamine (polyQ) repeat region ...
Katherine J. Robinson, Kristy Yuan, Stuart K. Plenderleith, Maxinne Watchon, Angela S. Laird   +4 more
doaj   +1 more source

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

Fibril-forming motif of non-expanded ataxin-3 revealed by scanning proline mutagenesis

Ageing and Neurodegenerative Diseases
Aims: The misfolding of ataxin-3 in neurons is the hallmark of a neurodegenerative disease, spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD). Ataxin-3 consists of a N-terminal Josephin domain and a C-terminal polyglutamine
Sheng-Rong Meng, Chao Ma, Jie Chen, Li-Qiang Wang, Hongyu Hu, Yi Liang   +5 more
semanticscholar   +1 more source