Stress granules, RNA-binding proteins and polyglutamine diseases: too much aggregation?

A Marcelo, R Koppenol, LP de Almeida, CA Matos… - Cell death & …, 2021 - nature.com
Stress granules (SGs) are membraneless cell compartments formed in response to different
stress stimuli, wherein translation factors, mRNAs, RNA-binding proteins (RBPs) and other …

[HTML][HTML] RNA-binding proteins in amyotrophic lateral sclerosis

M Zhao, JR Kim, R van Bruggen, J Park - Molecules and cells, 2018 - Elsevier
Significant research efforts are ongoing to elucidate the complex molecular mechanisms
underlying amyotrophic lateral sclerosis (ALS), which may in turn pinpoint potential …

Mitochondrial DNA quality control in the female germline requires a unique programmed mitophagy

JM Palozzi, SP Jeedigunta, AV Minenkova… - Cell Metabolism, 2022 - cell.com
Mitochondria have their own DNA (mtDNA), which is susceptible to the accumulation of
disease-causing mutations. To prevent deleterious mutations from being inherited, the …

Amyotrophic lateral sclerosis: molecular mechanisms, biomarkers, and therapeutic strategies

X Yang, Y Ji, W Wang, L Zhang, Z Chen, M Yu, Y Shen… - Antioxidants, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with the progressive
loss of motor neurons, leading to a fatal paralysis. According to whether there is a family …

Yeast ataxin-2 forms an intracellular condensate required for the inhibition of TORC1 signaling during respiratory growth

YS Yang, M Kato, X Wu, A Litsios, BM Sutter, Y Wang… - Cell, 2019 - cell.com
Yeast ataxin-2, also known as Pbp1 (polyA binding protein-binding protein 1), is an
intrinsically disordered protein implicated in stress granule formation, RNA biology, and …

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 …

Structural variants may be a source of missing heritability in sALS

F Theunissen, LL Flynn, RS Anderton… - Frontiers in …, 2020 - frontiersin.org
The underlying genetic and molecular mechanisms that drive amyotrophic lateral sclerosis
(ALS) remain poorly understood. Structural variants within the genome can play a significant …

MSGP: the first database of the protein components of the mammalian stress granules

C Nunes, I Mestre, A Marcelo, R Koppenol… - Database, 2019 - academic.oup.com
In response to different stress stimuli, cells transiently form stress granules (SGs) in order to
protect themselves and re-establish homeostasis. Besides these important cellular functions …

Ataxin-2: from RNA control to human health and disease

LA Ostrowski, AC Hall, K Mekhail - Genes, 2017 - mdpi.com
RNA-binding proteins play fundamental roles in the regulation of molecular processes
critical to cellular and organismal homeostasis. Recent studies have identified the RNA …

The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits

R Koppenol, A Conceição, IT Afonso, R Afonso-Reis… - Brain, 2023 - academic.oup.com
Polyglutamine diseases are a group of neurodegenerative disorders caused by an
abnormal expansion of CAG repeat tracts in the codifying regions of nine, otherwise …