[HTML][HTML] Losing the beat: contribution of Purkinje cell firing dysfunction to disease, and its reversal

AA Cook, E Fields, AJ Watt - Neuroscience, 2021 - Elsevier
The cerebellum is a brain structure that is highly interconnected with other brain regions.
There are many contributing factors to cerebellar-related brain disease, such as altered …

[HTML][HTML] Molecular mechanisms and therapeutics for spinocerebellar ataxia type 2

PA Egorova, IB Bezprozvanny - Neurotherapeutics, 2019 - Elsevier
The effective therapeutic treatment and the disease-modifying therapy for spinocerebellar
ataxia type 2 (SCA2)(a progressive hereditary disease caused by an expansion of …

Not all roads lead to the immune system: the genetic basis of multiple sclerosis severity

VG Jokubaitis, MP Campagna, O Ibrahim, J Stankovich… - Brain, 2023 - academic.oup.com
Multiple sclerosis is a leading cause of neurological disability in adults. Heterogeneity in
multiple sclerosis clinical presentation has posed a major challenge for identifying genetic …

Genetic landscape and autoimmunity of monocytes in developing Vogt–Koyanagi–Harada disease

Y Hu, Y Hu, Y Xiao, F Wen, S Zhang… - Proceedings of the …, 2020 - National Acad Sciences
Vogt–Koyanagi–Harada (VKH) disease is a systemic autoimmune disorder affecting multiple
organs, including eyes, skin, and central nervous system. It is known that monocytes …

spinocerebellar ataxias as diseases of Purkinje cell dysfunction rather than Purkinje cell loss

JP Kapfhammer, E Shimobayashi - Frontiers in Molecular …, 2023 - frontiersin.org
Spinocerebellar ataxias (SCAs) are a group of hereditary neurodegenerative diseases
mostly affecting cerebellar Purkinje cells caused by a wide variety of different mutations. One …

The polyglutamine protein ATXN2: from its molecular functions to its involvement in disease

RG Costa, A Conceição, CA Matos, C Nóbrega - Cell Death & Disease, 2024 - nature.com
A CAG repeat sequence in the ATXN2 gene encodes a polyglutamine (polyQ) tract within
the ataxin-2 (ATXN2) protein, showcasing a complex landscape of functions that have been …

Cerebellar granule cell signaling is indispensable for normal motor performance

JH Lee, MM Khan, AP Stark, S Seo, A Norton, Z Yao… - Cell reports, 2023 - cell.com
Within the cerebellar cortex, mossy fibers (MFs) excite granule cells (GCs) that excite
Purkinje cells (PCs), which provide outputs to the deep cerebellar nuclei (DCNs). It is well …

Metastasis suppressor 1 interacts with protein tyrosine phosphatase receptor‐δ to regulate adipogenesis

M Chen, Y Dong, L Tian, J Zhou, E Zhu… - The FASEB …, 2023 - Wiley Online Library
Adipogenesis is a finely controlled process and its dysfunction may contribute to metabolic
disorders such as obesity. Metastasis suppressor 1 (MTSS1) is a player in tumorigenesis …

Genetic effects of welding fumes on the development of respiratory system diseases

HK Rana, MR Akhtar, MB Islam, MB Ahmed… - Computers in biology …, 2019 - Elsevier
Background The welding process releases potentially hazardous gases and fumes, mainly
composed of metallic oxides, fluorides and silicates. Long term welding fume (WF) …

Spinocerebellar ataxia type 2

SM Pulst - Cerebellum as a CNS Hub, 2021 - Springer
Abstract Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited
neurodegenerative disease caused by CAG repeat expansion in the first coding exon of the …