Results 41 to 50 of about 20,303 (218)

ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population [PDF]

, 2012
Expansions of the polyglutamine (polyQ) domain (≥34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). Recent studies reported that intermediate-length (27–33) expansions increase the risk of Amyotrophic Lateral Sclerosis
Hilmi Özçelik (5648923), Aslihan Özoğuz, A Nazlı Başak, A. Nazlı Başak (143417), Piraye Oflazer, Hilmi Özçelik, Zeynep Sena Ağım, Piraye Oflazer (143408), Özgür Ömür (143395), Auburger, Georg, Oflazer, Piraye, Filiz Koç (143411), Zeynep Sena Ağım (143399), Özçelik, Hilmi, Yeşim Parman, Ömür, Özgür, Feza Deymeer, Parman, Yeşim, Yeşim Parman (143403), Ağım, Zeynep Sena, Başak, Ayşe Nazlı, Aslihan Özoğuz (143401), Özoğuz, Aslihan, Özgün Uyan, Özgün Uyan (5648920), Georg Auburger (139057), Suna Lahut, Deymeer, Feza, Georg Auburger, Uyan, Özgün, Feza Deymeer (143405), Lahut, Suna, Koç, Filiz, Filiz Koç, Suna Lahut (143392), Özgür Ömür   +35 more
core   +2 more sources

d-Polyglutamine Amyloid Recruits l-Polyglutamine Monomers and Kills Cells [PDF]

Journal of Molecular Biology, 2014
Polyglutamine (polyQ) amyloid fibrils are observed in disease tissue and have been implicated as toxic agents responsible for neurodegeneration in expanded CAG repeat diseases such as Huntington's disease. Despite intensive efforts, the mechanism of amyloid toxicity remains unknown. As a novel approach to probing polyQ toxicity, we investigate here how
Karunakar, Kar, Irene, Arduini, Kenneth W, Drombosky, Patrick C A, van der Wel, Ronald, Wetzel   +4 more
openaire   +2 more sources

Pathologic polyglutamine aggregation begins with a self-poisoning polymer crystal

eLife, 2023
A long-standing goal of amyloid research has been to characterize the structural basis of the rate-determining nucleating event. However, the ephemeral nature of nucleation has made this goal unachievable with existing biochemistry, structural biology ...
Tej Kandola, Shriram Venkatesan, Jiahui Zhang, Brooklyn T Lerbakken, Alex Von Schulze, Jillian F Blanck, Jianzheng Wu, Jay R Unruh, Paula Berry, Jeffrey J Lange, Andrew C Box, Malcolm Cook, Celeste Sagui, Randal Halfmann   +13 more
doaj   +1 more source

Selective Destabilization of Transcripts by mRNA Decapping Regulates Oocyte Maturation and Innate Immunity Gene Expression during Ageing in C. elegans

Biology, 2023
Removal of the 5′ cap structure of RNAs (termed decapping) is a pivotal event in the life of cytoplasmic mRNAs mainly catalyzed by a conserved holoenzyme, composed of the catalytic subunit DCP2 and its essential cofactor DCP1.
Fivos Borbolis, Dimitra Ranti, Maria-Despina Papadopoulou, Sofia Dimopoulou, Apostolos Malatras, Ioannis Michalopoulos, Popi Syntichaki   +6 more
doaj   +1 more source

The 11S Proteasomal Activator REGγ Impacts Polyglutamine-Expanded Androgen Receptor Aggregation and Motor Neuron Viability through Distinct Mechanisms

Frontiers in Molecular Neuroscience, 2017
Spinal and bulbar muscular atrophy (SBMA) is caused by expression of a polyglutamine (polyQ)-expanded androgen receptor (AR). The inefficient nuclear proteasomal degradation of the mutant AR results in the formation of nuclear inclusions containing amino-
Jill M. Yersak, Heather L. Montie, Erica S. Chevalier-Larsen, Yuhong Liu, Lan Huang, Martin Rechsteiner, Diane E. Merry   +6 more
doaj   +1 more source

The role of ubiquitination in spinal and bulbar muscular atrophy

Frontiers in Molecular Neuroscience, 2022
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative and neuromuscular genetic disease caused by the expansion of a polyglutamine-encoding CAG tract in the androgen receptor (AR) gene.
Medha Sengupta, Anna Pluciennik, Diane E. Merry   +2 more
doaj   +1 more source

SWI/SNF senses carbon starvation with a pH-sensitive low-complexity sequence

eLife, 2022
It is increasingly appreciated that intracellular pH changes are important biological signals. This motivates the elucidation of molecular mechanisms of pH sensing.
J Ignacio Gutierrez, Gregory P Brittingham, Yonca Karadeniz, Kathleen D Tran, Arnob Dutta, Alex S Holehouse, Craig L Peterson, Liam J Holt   +7 more
doaj   +1 more source

The Ubiquitin-Proteasome System in Huntington’s Disease: Are Proteasomes Impaired, Initiators of Disease, or Coming to the Rescue?

Biochemistry Research International, 2012
Huntington’s disease is a progressive neurodegenerative disease, caused by a polyglutamine expansion in the huntingtin protein. A prominent hallmark of the disease is the presence of intracellular aggregates initiated by N-terminal huntingtin fragments ...
Sabine Schipper-Krom, Katrin Juenemann, Eric A. J. Reits   +2 more
doaj   +1 more source

Autophagy Modulation as a Treatment of Amyloid Diseases

Molecules, 2019
Amyloids are fibrous proteins aggregated into toxic forms that are implicated in several chronic disorders. More than 30 diseases show deposition of fibrous amyloid proteins associated with cell loss and degeneration in the affected tissues.
Zoe Mputhia, Eugene Hone, Timir Tripathi, Tim Sargeant, Ralph Martins, Prashant Bharadwaj   +5 more
doaj   +1 more source

Polyglutamines Placed into Context

Neuron, 2003
Nine inherited neurodegenerative disorders result from polyglutamine expansions. Two recently published papers on spinocerebellar ataxia type 1, together with studies on spinobulbar muscular atrophy last year, indicate that host protein context is the key arbiter of polyglutamine disease protein toxicity.
La Spada, Albert R, Taylor, J.Paul
openaire   +2 more sources