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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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
Background A combination of central muscle relaxants, chlorzoxazone and baclofen
(chlorzoxazone‐baclofen), has been proposed for treatment of cerebellar symptoms in …
(chlorzoxazone‐baclofen), has been proposed for treatment of cerebellar symptoms in …
Protein kinase C isozymes and autophagy during neurodegenerative disease progression
Protein kinase C (PKC) isozymes are members of the Serine/Threonine kinase family
regulating cellular events following activation of membrane bound phospholipids. The …
regulating cellular events following activation of membrane bound phospholipids. The …