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Molecular biology of amyotrophic lateral sclerosis: insights from genetics
TLDR
An overview of the mechanisms for motor neuron death and the role of non-neuronal cells in ALS is presented and new insights are generated into the diverse molecular pathways involved in ALS pathogenesis. Expand
Dystrophin: The protein product of the duchenne muscular dystrophy locus
TLDR
The identification of the mdx mouse as an animal model for DMD has important implications with regard to the etiology of the lethal DMD phenotype, and the protein dystrophin is named because of its identification via the isolation of the Duchenne muscular dystrophy locus. Expand
Amyotrophic Lateral Sclerosis-Associated SOD1 Mutant Proteins Bind and Aggregate with Bcl-2 in Spinal Cord Mitochondria
TLDR
It is shown that in mice and humans, Bcl-2 binds to high molecular weight SDS-resistant mutant SOD1 containing aggregates that are present in mitochondria from spinal cord but not liver, providing new insights into the anti-apoptotic function of S OD1 and suggesting that entrapment of B cl-2 by large Sod1 aggregates may deplete motor neurons of this anti-APoptotic protein. Expand
Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing*
TLDR
The results of expression profile analyses and in vitro investigations that point to an interaction between dysferlin and the Ca2+ and lipid-binding proteins, annexins A1 and A2, and defines the annexins as potential muscular dystrophy genes are reported. Expand
Emerging mechanisms of molecular pathology in ALS.
TLDR
Investigation of ALS genes have delineated pathogenic roles for perturbations in protein stability and degradation, altered homeostasis of critical RNA- and DNA-binding proteins, impaired cytoskeleton function, and non-neuronal cells as modifiers of the ALS phenotype. Expand
Decreased Metallation and Activity in Subsets of Mutant Superoxide Dismutases Associated with Familial Amyotrophic Lateral Sclerosis* 210
TLDR
The H48Q variant contained a high copper content yet was 100-fold less active than the wild type enzyme and exhibited a blue shift in the visible absorbance peak of bound Cu(II), indicating rearrangement of the Cu( II) coordination geometry. Expand
Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS
TLDR
It is suggested that c9RAN proteins could potentially serve as a pharmacodynamic biomarker to assess efficacy of therapies that target r(GGGGCC)exp and poly(GP) c9 RAN proteins are specifically detected in c9ALS patient cerebrospinal fluid. Expand
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder
TLDR
It is concluded that the HREM has a single founder and is the most common mutation in familial and sporadic ALS in Europe. Expand
Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice
TLDR
A line of mice carrying a bacterial artificial chromosome containing exons 1 to 6 of the human C9ORF72 gene with approximately 500 repeats of the GGGGCC motif showed distinctive histopathological features of C9orF72 ALS/FTD, including sense and antisense intranuclear RNA foci and poly(glycine-proline) dipeptide repeat proteins. Expand
Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis
TLDR
While sequencing candidate genes, a previously unreported gene was identified that encodes an inwardly rectifying potassium (Kir) channel, nearly identical to Kir2.6, which is expressed in skeletal muscle and is transcriptionally regulated by thyroid hormone. Expand
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