Polyglutamine repeats in neurodegenerative diseases

AP Lieberman, VG Shakkottai… - Annual Review of …, 2019 - annualreviews.org
Among the age-dependent protein aggregation disorders, nine neurodegenerative diseases
are caused by expansions of CAG repeats encoding polyglutamine (polyQ) tracts. We …

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 …

Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD

ML Schultz, KL Krus, S Kaushik, D Dang… - Nature …, 2018 - nature.com
Niemann–Pick type C disease is a fatal, progressive neurodegenerative disorder caused by
loss-of-function mutations in NPC1, a multipass transmembrane glycoprotein essential for …

Multifunctional conductive and electrogenic hydrogel repaired spinal cord injury via immunoregulation and enhancement of neuronal differentiation

M Liu, W Zhang, S Han, D Zhang, X Zhou… - Advanced …, 2024 - Wiley Online Library
Spinal cord injury (SCI) is a refractory neurological disorder. Due to the complex
pathological processes, especially the secondary inflammatory cascade and the lack of …

Ion channel dysfunction in cerebellar ataxia

DD Bushart, VG Shakkottai - Neuroscience letters, 2019 - Elsevier
Cerebellar ataxias constitute a heterogeneous group of disorders that result in impaired
speech, uncoordinated limb movements, and impaired balance, often ultimately resulting in …

[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 …

Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation

MMK Wong, SD Hoekstra, J Vowles, LM Watson… - Acta neuropathologica …, 2018 - Springer
Abstract Spinocerebellar ataxia type 14 (SCA14) is a subtype of the autosomal dominant
cerebellar ataxias that is characterized by slowly progressive cerebellar dysfunction and …

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 …

A Chlorzoxazone‐Baclofen Combination Improves Cerebellar Impairment in Spinocerebellar Ataxia Type 1

DD Bushart, H Huang, LJ Man, LM Morrison… - Movement …, 2021 - Wiley Online Library
Background A combination of central muscle relaxants, chlorzoxazone and baclofen
(chlorzoxazone‐baclofen), has been proposed for treatment of cerebellar symptoms in …

Protein kinase C isozymes and autophagy during neurodegenerative disease progression

HN Kaleli, E Ozer, VO Kaya, O Kutlu - Cells, 2020 - mdpi.com
Protein kinase C (PKC) isozymes are members of the Serine/Threonine kinase family
regulating cellular events following activation of membrane bound phospholipids. The …