Results 61 to 70 of about 26,249 (178)

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

Expanded ATXN3 CAG Repeat is Stable in Human Purkinje Cells

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by an abnormally long polyglutamine‐encoding CAG repeat in the ATXN3 gene. Objectives We aimed to determine whether somatic expansion of the mutant ATXN3 (mATXN3) CAG repeat is present in the output cell of the cerebellar cortex, the Purkinje cell (PC), in ...
Hasnahana Chetia, Laura Kus, Erika Sipos, Nathaniel Heintz, Kert Mätlik   +4 more
wiley   +1 more source

Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon

Neurobiology of Disease, 2013
Spinocerebellar ataxia type 3 is caused by a polyglutamine expansion in the ataxin-3 protein, resulting in gain of toxic function of the mutant protein. The expanded glutamine stretch in the protein is the result of a CAG triplet repeat expansion in the ...
Melvin M. Evers, Hoang-Dai Tran, Ioannis Zalachoras, Barry A. Pepers, Onno C. Meijer, Johan T. den Dunnen, Gert-Jan B. van Ommen, Annemieke Aartsma-Rus, Willeke M.C. van Roon-Mom   +8 more
doaj   +1 more source

Altered brain white matter structural motor network in spinocerebellar ataxia type 3

Annals of Clinical and Translational Neurology, 2023
Objectives Spinocerebellar ataxia type 3 is a disorder within the brain network. However, the relationship between the brain network and disease severity is still unclear.
Xin‐Yuan Chen, Zi‐Qiang Huang, Wei Lin, Meng‐Cheng Li, Zhi‐Xian Ye, Yu‐Sen Qiu, Xiao‐Yue Xia, Na‐Ping Chen, Jian‐Ping Hu, Shi‐Rui Gan, Qun‐Lin Chen   +10 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

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

TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics

The FEBS Journal, EarlyView.
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga, Zsolt Ráduly, Beáta Boros‐Oláh, Éva Nagy, Zsolt Karányi, László Halász, Bálint László Bálint, György Vámosi, Emese Tóth, Péter Bai, Serena Santangelo, Patrizia Bossolasco, Antonia Ratti, Vincent Géli, Yves Pommier, Lóránt Székvölgyi   +15 more
wiley   +1 more source

Clinical progress of neuromodulation therapy for spinocerebellar ataxia type 3

Chinese Journal of Contemporary Neurology and Neurosurgery
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disease, with core clinical symptoms including motor disorders and cognitive impairment.
WANG Cheng-en, LI Xue-hui, GENG Zi-han, ZHAO Fei, YANG Jia-jia   +4 more
doaj   +1 more source

ON/OFF Phenomenon in 4‐Aminopyridine Therapy in Spinocerebellar Ataxia 27B: Therapeutic and Diagnostic Insights

Movement Disorders Clinical Practice, EarlyView.
Chiara Caneda, Eleonora Bertoncello, Alessia Peghin, Sara Satolli, Filippo Maria Santorelli, Michele Tinazzi, Ilaria Antonella Di Vico   +6 more
wiley   +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