Genotype-Property Patient-Phenotype Relations Suggest that Proteome Exhaustion Can Cause Amyotrophic Lateral Sclerosis

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Genotype-Property Patient-Phenotype Relations Suggest that Proteome Exhaustion Can Cause Amyotrophic Lateral Sclerosis

Late-onset neurodegenerative diseases remain poorly understood as search continues for the perceived pathogenic protein species. Previously, variants in Superoxide Dismutase 1 (SOD1) causing Amyotrophic Lateral Sclerosis (ALS) were found to destabilize and reduce net charge, suggesting a pathogenic aggregation mechanism. This paper reports analysis of compiled patient data and experimental and ...

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observation of c.260a > g mutation in superoxide dismutase 1 that causes p.asn86ser in iranian amyotrophic lateral sclerosis patient and absence of genotype/phenotype correlation

background: amyotrophic lateral sclerosis (als) is the most common motor neuron disorder in european populations. als can be sporadic als (sals) or familial als (fals). among 20 known als genes, mutations in c9orf72 and superoxide dismutase 1 (sod1) are the most common genetic causes of the disease. whereas c9orf72 mutations are more common in western populations, the contribution of sod1 to al...

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TARDBP, and FUS mutations in familial Amyotrophic Lateral Sclerosis: genotype-phenotype correlations

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SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

BACKGROUND Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS). METHODS The relative contributions of the different mutations to ALS were estimated by systematically screening a cohort of 162 families enrolled in France and 500 controls (1000 chromosomes) using molecular analysis techniques and performing phenotype-genotype correlatio...

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ژورنال

عنوان ژورنال: PLOS ONE

سال: 2015

ISSN: 1932-6203

DOI: 10.1371/journal.pone.0118649