Laura Leykam
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View article: Diverse effects of coexpression of human SOD1 variants on motor neuron disease
Diverse effects of coexpression of human SOD1 variants on motor neuron disease Open
Mutations in superoxide dismutase-1 (SOD1) are a common cause of amyotrophic lateral sclerosis (ALS). Inheritance is as a rule dominant, but in carriers of the most common mutation, D90A, disease can develop in both homozygous and, more ra…
View article: <scp>SOD1</scp> Protein Content in Human Central Nervous System and Peripheral Tissues
<span>SOD1</span> Protein Content in Human Central Nervous System and Peripheral Tissues Open
Gene silencing therapy is an effective treatment for amyotrophic lateral sclerosis (ALS) patients carrying mutations in the superoxide dismutase‐1 ( SOD1 ) gene aiming to reduce noxious forms of SOD1 in the central nervous system (CNS). Th…
View article: Specific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations
Specific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations Open
Mutations in superoxide dismutase-1 (SOD1) are a cause of hereditary amyotrophic lateral sclerosis (ALS) through a gain-of-function mechanism involving unfolded mutant SOD1. Intrathecal gene therapy using the antisense-oligo-nucleotide dru…
View article: SOD1 Enzymatic Activity in CSF from ALS patients with and without<i>SOD1</i>mutations
SOD1 Enzymatic Activity in CSF from ALS patients with and without<i>SOD1</i>mutations Open
Superoxide dismutase-1 (SOD1) mutations are a common cause of amyotrophic lateral sclerosis (ALS). Intrathecal gene therapy using the antisense-oligo-nucleotide drug tofersen to reduce SOD1 expression shows significant effects on disease p…