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Investigating chitotriosidase and glycosyltransferase GLT8D1 in Amyotrophic Lateral Sclerosis
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"Amyotrophic lateral sclerosis (ALS) is a neurodegenerative neuromuscular disease causing motor neuron dysfunction. The identification of ALS biomarkers is of great importance in diagnosis, monitoring of disease progression and understanding of disease etiology.
The aim of this thesis was to investigate two proteins related with ALS pathology. First, the potential of plasma chitotriosidase (CHIT1) as ALS biomarker has been investigated. Second, the enzyme glycosyltransferase 8 domain-containing protein 1 (GLT8D1), recently found mutated in familial cases of ALS, has been characterized.(...)"
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Amyotrophic Lateral Sclerosis galactosyltransferase glycosyltransferase 8 domain-containing 1 biomarker plasma chitotriosidase