Multiplex screening for lysosomal storage disorders (lsds)

G - Physics – 01 – N

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G01N 33/543 (2006.01) G01N 33/58 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2524272

A novel protein profiling method of testing for Lysosomal Storage Diseases ("LSD") using discovered normalized lysosomal fingerprint patterns. The fingerprint patterns reveal the health of lysosomal organelles, specific LSD, and clinical severity. Multiplexing bead technology for simultaneous screening of multiple LSD and normalizing measured enzyme activity or protein levels against other lysosomal proteins, enzymes, or enzyme activities. Compounds, reagents, and methods for identifying and quantifying multiple target enzymes and proteins.

L'invention a trait à un nouveau procédé d'établissement de profils protéiques destiné à déceler des maladies lysosomales, qui font appel à des modèles d'empreintes digitales lysosomales normalisés découverts. Les modèles d'empreintes digitales indiquent l'état de santé des organites lysosomales, et révèlent des maladies lysosomales spécifiques et la gravité clinique. L'invention concerne aussi une technologie multiplex à perles permettant de cribler simultanément de multiples maladies lysosomales et de normaliser l'activité enzymatique ou la protéinorachie mesurées par rapport à d'autres protéines, enzymes ou activités enzymatiques lysosomales. L'invention se rapporte également à des composés, à des réactifs et à des procédés permettant d'identifier et de quantifier de multiples enzymes et protéines cibles.

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