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 …

A survey of protein interactions and posttranslational modifications that influence the polyglutamine diseases

SL Johnson, WL Tsou, MV Prifti, AL Harris… - Frontiers in Molecular …, 2022 - frontiersin.org
The presence and aggregation of misfolded proteins has deleterious effects in the nervous
system. Among the various diseases caused by misfolded proteins is the family of the …

Expression of expanded GGC repeats within NOTCH2NLC causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion …

Q Liu, K Zhang, Y Kang, Y Li, P Deng, Y Li, Y Tian… - Science …, 2022 - science.org
GGC repeat expansions within NOTCH2NLC have been identified as the genetic cause of
neuronal intranuclear inclusion disease (NIID). To understand the molecular pathogenesis …

[HTML][HTML] Inositol triphosphate-triggered calcium release blocks lipid exchange at endoplasmic reticulum-Golgi contact sites

M Malek, AM Wawrzyniak, P Koch… - Nature …, 2021 - nature.com
Vesicular traffic and membrane contact sites between organelles enable the exchange of
proteins, lipids, and metabolites. Recruitment of tethers to contact sites between the …

Toll-like receptor 4 deficiency in Purkinje neurons drives cerebellar ataxia by impairing the BK channel-mediated after-hyperpolarization and cytosolic calcium …

J Zhu, W Qiu, F Wei, J Zhang, Y Yuan, L Liu… - Cell Death & …, 2024 - nature.com
Abstract Toll-like receptor (TLR) 4 contributes to be the induction of neuroinflammation by
recognizing pathology-associated ligands and activating microglia. In addition, numerous …

Pyroptosis mediated by Parkin-NLRP3 negative feedback loop contributed to Parkinson's disease induced by rotenone

D Zheng, Y Lai, K Huang, D Guan, Z Xie, C Fu… - International …, 2024 - Elsevier
Rotenone remains an efficient pesticide used extensively in agriculture, leading to
neurotoxicity and the increase of the prevalence of Parkinson's disease (PD). Previous …

Gene deregulation and underlying mechanisms in spinocerebellar ataxias with polyglutamine expansion

A Niewiadomska-Cimicka, A Hache… - Frontiers in …, 2020 - frontiersin.org
Polyglutamine spinocerebellar ataxias (polyQ SCAs) include SCA1, SCA2, SCA3, SCA6,
SCA7, and SCA17 and constitute a group of adult onset neurodegenerative disorders …

The Emerging Key Role of the mGluR1-PKCγ Signaling Pathway in the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental Viewpoint

QW Wu, JP Kapfhammer - International Journal of Molecular Sciences, 2022 - mdpi.com
Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominantly
inherited progressive disorders with degeneration and dysfunction of the cerebellum …

Calpains as novel players in the molecular pathogenesis of spinocerebellar ataxia type 17

JJ Weber, SC Anger, P Pereira Sena… - Cellular and Molecular …, 2022 - Springer
Abstract Spinocerebellar ataxia type 17 (SCA17) is a neurodegenerative disease caused by
a polyglutamine-encoding trinucleotide repeat expansion in the gene of transcription factor …

Inositol triphosphate–triggered calcium release from the endoplasmic reticulum induces lysosome biogenesis via TFEB/TFE3

M Malek, AM Wawrzyniak, M Ebner, D Puchkov… - Journal of Biological …, 2022 - ASBMB
Lysosomes serve as dynamic regulators of cell and organismal physiology by integrating the
degradation of macromolecules with receptor and nutrient signaling. Previous studies have …