학술논문
Correspondence comprehensive characterization of a brainstem aggregoma (light and heavy chain deposition disease).
Document Type
Article
Author
Becker, Aline P.; Osorio, Diana S.; Bell, Erica H.; Giglio, Pierre; Fleming, Jessica L.; Cottrell, Catherine E.; Mardis, Elaine R.; Miller, Katherine E.; Schieffer, Kathleen M.; Kelly, Benjamin J.; Makary, Mina S.; Slone, Wayne; Benson, Don; Leonard, Jeffrey; Kahwash, Samir B.; Boué, Daniel R.; Chakravarti, Arnab
Source
Subject
*BRAIN stem
*IMMUNOGLOBULIN light chains
*LIQUID chromatography-mass spectrometry
*AMYOTROPHIC lateral sclerosis
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Language
ISSN
1015-6305
Abstract
(B) mRNA expression of select immunoglobulin chain genes (detected at highest abundance in LC-MS/MS data) in a cohort of 153 pediatric CNS lesions. (A) Most abundant proteins detected by LC-MS/MS analysis of the LHCDD - number of proteins compared with the total spectrum count. Our patient sample is highlighted in red. (C) Ingenuity pathway analysis pathway analysis showed elevated immune pathways with a positive Z score, confirming the findings from LC-MS/MS. Keywords: aggregoma; genomic profiling; immunoglobulin kappa-chains; light and heavy chain deposition disease; mass spectrometry EN aggregoma genomic profiling immunoglobulin kappa-chains light and heavy chain deposition disease mass spectrometry 1 5 5 09/01/23 20230901 NES 230901 Monoclonal immunoglobulin (Ig) deposition diseases are classified as heavy chain deposition disease (HCDD); light chain deposition diseases (LCDD); and light and heavy chain deposition disease (LHCDD) - deposits of both light [kappa ( ) and lambda ( )], and heavy [alpha ( ), delta ( ), epsilon ( ), gamma ( ), and mu ( )] Ig chains. [Extracted from the article]