Molecular biology of amyotrophic lateral sclerosis: insights from genetics

By P. Pasinelli, Robert H. Brown. Nature Reviews Neuroscience, 2006

1,183 citations recorded by the source corpus.

Subfields: Genetics, Neurology

View Paper: https://www.semanticscholar.org/paper/9667874b0798b4d2be964bd14bb5b4c7d6f1a7ce

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. Robert H. Brown
2. Clifford J. Woolf

In Neurology

1. V. Lee
2. John Q. Trojanowski
3. P. Shaw
4. Robert H. Brown
5. John C. Morris
6. Clifford J. Woolf
7. D. Cleveland
8. Dennis W. Dickson

Citations in the corpus

• Intrinsic Membrane Hyperexcitability of ALS Patient-Derived Motor Neurons (2014, background): “The excitotoxicity neurodegeneration hypothesis posits that excessive glutamatergic synaptic activity in ALS leads to calcium overload and cell death (Cleveland and Rothstein, 2001; Pasinelli and Brown, 2006).”
• TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration (2009, background): “By contrast, ALS presents with muscle weakness and spasticity due to degeneration of motor neurons in both layer 5 of cortex and in the spinal cord, resulting in death from respiratory failure in 3–5 years (2, 3).”
• A long nuclear‐retained non‐coding RNA regulates synaptogenesis by modulating gene expression (2010, neutral): “lateral sclerosis (Pasinelli and Brown, 2006).”
• Pathological roles of MAPK signaling pathways in human diseases. (2010, neutral): “paralysis, and, eventually, death [125,126].”
• Autophagy and apoptosis dysfunction in neurodegenerative disorders. (2014, neutral): “ALS has been considered as a multifactorial disease with endoplasmic reticulum stress, oxidative damage and genetic factors being proposed as some of its pathogenic reasons (Pasinelli and Brown, 2006 ).”
• Spinal Muscular Atrophy: Why do low levels of SMN make motor neurons sick? (2009, background): “cgi?id=105400">amyotrophic lateral sclerosis (caused by mutations in superoxide dismutase 1 ( SOD1 )”
• A comprehensive review of amyotrophic lateral sclerosis (2015, background): “Some studies have demonstrated a decreased activity of respiratory chain complexes I and IV that are associated with defective energy metabolism.[234]”
• TDP‐43 A315T mutation in familial motor neuron disease (2008, background): “tions that affect predominantly lower motor neurons including mutations in the vesicle-associated membrane protein-associated protein B (VAPB), dynactin (DCTN1), alsin (ALS2), immunoglobulin -binding protein 2 (IGHMBP2), and glycyl-tRNA synthetase (GARS) genes, and other mutations in juvenile MND, a”
• Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations (2007, background): “Although it is widely believed that SOD1 mutations cause ALS because of a toxic gain of function, this remains unproved.(1,4,5) Similarities in the clinical course and neuropathology of SALS and FALS have lead to the hypothesis that studying the familial forms will elucidate the pathophysiological m”