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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
Stance, Sitting, and Speech. It was developed as a potentially clinically meaningful measure …