Polyglutamine diseases

EL Bunting, J Hamilton, SJ Tabrizi - Current Opinion in Neurobiology, 2022 - Elsevier
Polyglutamine diseases are a collection of nine CAG trinucleotide expansion disorders,
presenting with a spectrum of neurological and clinical phenotypes. Recent human, mouse …

HD and SCA1: Tales from two 30-year journeys since gene discovery

LM Thompson, HT Orr - Neuron, 2023 - cell.com
One of the more transformative findings in human genetics was the discovery that the
expansion of unstable nucleotide repeats underlies a group of inherited neurological …

Toxicity after AAV delivery of RNAi expression constructs into nonhuman primate brain

MS Keiser, PT Ranum, CM Yrigollen, EM Carrell… - Nature medicine, 2021 - nature.com
RNA interference (RNAi) for spinocerebellar ataxia type 1 can prevent and reverse
behavioral deficits and neuropathological readouts in mouse models, with safety and benefit …

MicroRNA 320, an anti-oncogene target miRNA for cancer therapy

Y Liang, S Li, L Tang - Biomedicines, 2021 - mdpi.com
MicroRNAs are a set of highly conserved non-coding RNAs that control gene expression at
the post-transcriptional/translational levels by binding to the 3′-UTR of diverse target …

Expression Pattern and Functional Analyses of Arabidopsis Guard Cell-Enriched GDSL Lipases

C Xiao, H Guo, J Tang, J Li, X Yao, H Hu - Frontiers in Plant Science, 2021 - frontiersin.org
There are more than 100 GDSL lipases in Arabidopsis, but only a few members have been
functionally investigated. Moreover, no reports have ever given a comprehensive analysis of …

A regulatory network controlling ovarian granulosa cell death

L Yang, X Du, S Wang, C Lin, Q Li, Q Li - Cell Death Discovery, 2023 - nature.com
Follicular atresia triggered by granulosa cell (GC) apoptosis severely reduces female fertility
and accelerates reproductive aging. GC apoptosis is a complex process regulated by …

miR-184, a downregulated ovary-elevated miRNA transcriptionally activated by SREBF2, exerts anti-apoptotic properties in ovarian granulosa cells through inducing …

B Shan, Y Huo, Z Guo, Q Li, Z Pan, Q Li, X Du - Cell Death & Disease, 2024 - nature.com
Follicular atresia is the primary threat to female fertility. miRNAs are dysregulated in
granulosa cells (GCs) during follicular atresia, and have emerged as crucial regulators of the …

[HTML][HTML] Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1

L Nitschke, SL Coffin, E Xhako, DB El-Najjar… - JCI insight, 2021 - ncbi.nlm.nih.gov
Abstract Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disorder
characterized by motor incoordination, mild cognitive decline, respiratory dysfunction, and …

Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine-expanded ataxin-1

WS Lee, I Al-Ramahi, HH Jeong, Y Jang… - The Journal of …, 2022 - Am Soc Clin Investig
Many neurodegenerative disorders are caused by abnormal accumulation of misfolded
proteins. In spinocerebellar ataxia type 1 (SCA1), accumulation of polyglutamine-expanded …

[HTML][HTML] Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model

JP Orengo, L Nitschke, ME van der Heijden… - JCI insight, 2022 - ncbi.nlm.nih.gov
Abstract Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disorder.
As disease progresses, motor neurons are affected, and their dysfunction contributes toward …