Emerging roles of ATG7 in human health and disease

JJ Collier, F Suomi, M Oláhová… - EMBO molecular …, 2021 - embopress.org
The cardinal stages of macroautophagy are driven by core autophagy‐related (ATG)
proteins, whose ablation largely abolishes intracellular turnover. Disrupting ATG genes is …

Autophagy in human diseases

N Mizushima, B Levine - New England journal of medicine, 2020 - Mass Medical Soc
Autophagy in Human Diseases Autophagy is a complex process of intracellular degradation
of senescent or malfunctioning organelles. Dysregulated autophagy is associated with …

[HTML][HTML] Glycogen synthase kinase-3 inhibitors: preclinical and clinical focus on CNS-A decade onward

SM Arciniegas Ruiz, H Eldar-Finkelman - Frontiers in molecular …, 2022 - frontiersin.org
The protein kinase, GSK-3, participates in diverse biological processes and is now
recognized a promising drug discovery target in treating multiple pathological conditions …

[HTML][HTML] Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

M Kim, E Sandford, D Gatica, Y Qiu, X Liu, Y Zheng… - elife, 2016 - elifesciences.org
Autophagy is required for the homeostasis of cellular material and is proposed to be
involved in many aspects of health. Defects in the autophagy pathway have been observed …

[HTML][HTML] Genetics, mechanisms, and therapeutic progress in polyglutamine spinocerebellar ataxias

RAM Buijsen, LJA Toonen, SL Gardiner… - …, 2019 - Elsevier
Autosomal dominant cerebellar ataxias (ADCAs) are a group of neurodegenerative
disorders characterized by degeneration of the cerebellum and its connections. All ADCAs …

[HTML][HTML] Spinocerebellar ataxia type 2: clinicogenetic aspects, mechanistic insights, and management approaches

LC Velázquez-Pérez, R Rodríguez-Labrada… - Frontiers in …, 2017 - frontiersin.org
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia that
occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive …

Current and emerging treatment modalities for spinocerebellar ataxias

SD Ghanekar, SH Kuo, JS Staffetti… - Expert review of …, 2022 - Taylor & Francis
Introduction Spinocerebellar ataxias (SCA) are a group of rare neurodegenerative diseases
that dramatically affect the lives of affected individuals and their families. Despite having a …

Pharmacological and non-pharmacological management of spinocerebellar ataxia: a systematic review

KH Yap, S Azmin, J Che Hamzah, N Ahmad… - Journal of …, 2022 - Springer
Spinocerebellar ataxias (SCA) comprise a rare, genetic subgroup within the degenerative
ataxias and are dominantly inherited, with up to 48 recognized genetic subtypes. While an …

The key role of magnetic resonance imaging in the detection of neurodegenerative diseases-associated biomarkers: a review

KR Li, AG Wu, Y Tang, XP He, CL Yu, JM Wu… - Molecular …, 2022 - Springer
Neurodegenerative diseases (NDs), including chronic disease such as Alzheimer's disease,
Parkinson's disease, Huntington's disease, and multiple sclerosis, and acute diseases like …

[HTML][HTML] Content validity of the modified functional Scale for the Assessment and Rating of Ataxia (f-SARA) instrument in spinocerebellar ataxia

M Potashman, K Rudell, I Pavisic, N Suminski, R Doma… - The Cerebellum, 2024 - Springer
The functional Scale for the Assessment and Rating of Ataxia (f-SARA) assesses Gait,
Stance, Sitting, and Speech. It was developed as a potentially clinically meaningful measure …