Creatine in health and disease

RB Kreider, JR Stout - Nutrients, 2021 - mdpi.com
Although creatine has been mostly studied as an ergogenic aid for exercise, training, and
sport, several health and potential therapeutic benefits have been reported. This is because …

Spinocerebellar ataxia

T Klockgether, C Mariotti, HL Paulson - Nature reviews Disease primers, 2019 - nature.com
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …

Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3

S Duarte-Silva, JD Da Silva… - The Journal of clinical …, 2024 - jci.org
Spinocerebellar ataxia type 3 (SCA3) is an adult-onset neurodegenerative disease caused
by a polyglutamine expansion in the ataxin-3 (ATXN3) gene. No effective treatment is …

Machado–Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy

CA Matos, LP de Almeida… - Journal of …, 2019 - Wiley Online Library
Abstract Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3
(SCA 3), is an incurable disorder, widely regarded as the most common form of …

Mitochondrial function and dynamics in neural stem cells and neurogenesis: Implications for neurodegenerative diseases

P Coelho, L Fão, S Mota, AC Rego - Ageing research reviews, 2022 - Elsevier
Mitochondria have been largely described as the powerhouse of the cell and recent findings
demonstrate that this organelle is fundamental for neurogenesis. The mechanisms …

Aberrant cerebellar circuitry in the spinocerebellar ataxias

KJ Robinson, M Watchon, AS Laird - Frontiers in neuroscience, 2020 - frontiersin.org
The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative
diseases that share convergent disease features. A common symptom of these diseases is …

CRISPR/Cas9 mediated gene correction ameliorates abnormal phenotypes in spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cells

L He, S Wang, L Peng, H Zhao, S Li, X Han… - Translational …, 2021 - nature.com
Abstract Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a
progressive autosomal dominant neurodegenerative disease caused by abnormal CAG …

Creatine supplementation with exercise reduces α-synuclein oligomerization and necroptosis in Parkinson's disease mouse model

YH Leem, JS Park, JE Park, DY Kim, HS Kim - The Journal of Nutritional …, 2024 - Elsevier
Parkinson's disease (PD) is an incurable neurological disorder that causes typical motor
deficits. In this study, we investigated the effects of creatine supplementation and exercise in …

Mitochondria and other organelles in neural development and their potential as therapeutic targets in neurodegenerative diseases

S Zhang, J Zhao, Z Quan, H Li, H Qing - Frontiers in neuroscience, 2022 - frontiersin.org
The contribution of organelles to neural development has received increasing attention.
Studies have shown that organelles such as mitochondria, endoplasmic reticulum (ER) …

[HTML][HTML] From pathogenesis to novel therapeutics for spinocerebellar ataxia type 3: evading potholes on the way to translation

JD Da Silva, A Teixeira-Castro, P Maciel - Neurotherapeutics, 2019 - Elsevier
Abstract Spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease
(MJD), is a neurodegenerative disorder caused by a polyglutamine expansion in the ATXN3 …