ALS genetics, mechanisms, and therapeutics: where are we now?
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
Compromised autophagy and neurodegenerative diseases
FM Menzies, A Fleming, DC Rubinsztein - Nature Reviews …, 2015 - nature.com
Most neurodegenerative diseases that afflict humans are associated with the
intracytoplasmic deposition of aggregate-prone proteins in neurons and with mitochondrial …
intracytoplasmic deposition of aggregate-prone proteins in neurons and with mitochondrial …
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized
by the degeneration of both upper and lower motor neurons, which leads to muscle …
by the degeneration of both upper and lower motor neurons, which leads to muscle …
Endoplasmic reticulum–mitochondria signaling in neurons and neurodegenerative diseases
A Markovinovic, J Greig… - Journal of Cell …, 2022 - journals.biologists.com
Recent advances have revealed common pathological changes in neurodegenerative
diseases, such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral …
diseases, such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral …
[HTML][HTML] Neuronal sigma-1 receptors: signaling functions and protective roles in neurodegenerative diseases
DA Ryskamp, S Korban, V Zhemkov… - Frontiers in …, 2019 - frontiersin.org
Sigma-1 receptor (S1R) is a multi-functional, ligand-operated protein situated in
endoplasmic reticulum (ER) membranes and changes in its function and/or expression have …
endoplasmic reticulum (ER) membranes and changes in its function and/or expression have …
Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration
RNA-binding proteins, and in particular TAR DNA-binding protein 43 (TDP43), are central to
the pathogenesis of motor neuron diseases and related neurodegenerative disorders …
the pathogenesis of motor neuron diseases and related neurodegenerative disorders …
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
PM Andersen, A Al-Chalabi - Nature Reviews Neurology, 2011 - nature.com
Hereditary amyotrophic lateral sclerosis (ALS) encompasses a group of genetic disorders
characterized by adult-onset loss of the lower and upper motor neuron systems, often with …
characterized by adult-onset loss of the lower and upper motor neuron systems, often with …
Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a genetically diverse disease. At least 15 ALS-
associated gene loci have so far been identified, and the causative gene is known in …
associated gene loci have so far been identified, and the causative gene is known in …
A mutation in sigma‐1 receptor causes juvenile amyotrophic lateral sclerosis
A Al‐Saif, F Al‐Mohanna, S Bohlega - Annals of neurology, 2011 - Wiley Online Library
Objective: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder
characterized by loss of motor neurons in the brain and spinal cord, leading to muscle …
characterized by loss of motor neurons in the brain and spinal cord, leading to muscle …
Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR1‐ and SOD1‐linked ALS
S Watanabe, H Ilieva, H Tamada, H Nomura… - EMBO molecular …, 2016 - embopress.org
A homozygous mutation in the gene for sigma 1 receptor (Sig1R) is a cause of inherited
juvenile amyotrophic lateral sclerosis (ALS 16). Sig1R localizes to the mitochondria …
juvenile amyotrophic lateral sclerosis (ALS 16). Sig1R localizes to the mitochondria …