Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
C9orf72-mediated ALS and FTD: multiple pathways to disease
R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Noncoding repeat expansions cause various neuromuscular diseases, including myotonic
dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic …
dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic …
The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia
YA Abramzon, P Fratta, BJ Traynor… - Frontiers in neuroscience, 2020 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two diseases
that form a broad neurodegenerative continuum. Considerable effort has been made to …
that form a broad neurodegenerative continuum. Considerable effort has been made to …
State of play in amyotrophic lateral sclerosis genetics
Considerable progress has been made in unraveling the genetic etiology of amyotrophic
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …
C9ORF72: what it is, what it does, and why it matters
J Smeyers, EG Banchi, M Latouche - Frontiers in cellular …, 2021 - frontiersin.org
When the non-coding repeat expansion in the C9ORF72 gene was discovered to be the
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels
or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we …
or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we …
Autophagy and ALS: mechanistic insights and therapeutic implications
JP Chua, H De Calbiac, E Kabashi, SJ Barmada - Autophagy, 2022 - Taylor & Francis
Mechanisms of protein homeostasis are crucial for overseeing the clearance of misfolded
and toxic proteins over the lifetime of an organism, thereby ensuring the health of neurons …
and toxic proteins over the lifetime of an organism, thereby ensuring the health of neurons …
Protein aggregation in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have …
aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have …
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
S Mizielinska, S Grönke, T Niccoli, CE Ridler… - Science, 2014 - science.org
An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of
frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is …
frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is …