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Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria
(2023)
Andrés D. Klein
;
Tiago Fleming Outeiro
1Scopus© Citations 19
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A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids
(2023)
Anyelo Durán
;
David A. Priestman
;
Macarena Las Las Heras
;
Boris Rebolledo-Jaramillo
;
Valeria Olguín
<jats:p>Identification of genetic modulators of lysosomal enzyme activities and glycosphingolipids (GSLs) may facilitate the development of therapeutics for diseases in which they participate, including Lysosomal Storage Disorders (LSDs). To this end, we used a systems genetics approach: we measured 11 hepatic lysosomal enzymes and many of their natural substrates (GSLs), followed by modifier gene mapping by GWAS and transcriptomics associations in a panel of inbred strains. Unexpectedly, most GSLs showed no association between their levels and the enzyme activity that catabolizes them. Genomic mapping identified 30 shared predicted modifier genes between the enzymes and GSLs, which are clustered in three pathways and are associated with other diseases. Surprisingly, they are regulated by ten common transcription factors, and their majority by miRNA-340p. In conclusion, we have identified novel regulators of GSL metabolism, which may serve as therapeutic targets for LSDs and may suggest the involvement of GSL metabolism in other pathologies.</jats:p>
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Chaperone mediated autophagy contributes to the newly synthesized histones H3 and H4 quality control
(2022)
HORMAZABAL CASTILLO, JUAN PATRICIO
;
Francisco Saavedra
;
Claudia Espinoza-Arratia
;
Nicolas W Martinez
;
Tatiana Cruces
<jats:title>Abstract</jats:title> <jats:p>Although there are several pathways to ensure that proteins are folded properly in the cell, little is known about the molecular mechanisms regulating histone folding and proteostasis. In this work, we identified that chaperone-mediated autophagy (CMA) is the main pathway involved in the degradation of newly synthesized histones H3 and H4. This degradation is finely regulated by the interplay between HSC70 and tNASP, two histone interacting proteins. tNASP stabilizes histone H3 levels by blocking the direct transport of histone H3 into lysosomes. We further demonstrate that CMA degrades unfolded histone H3. Thus, we reveal that CMA is the main degradation pathway involved in the quality control of histone biogenesis, evidencing an additional mechanism in the intricate network of histone cellular proteostasis.</jats:p>
Scopus© Citations 8 4
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Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions
(2020)
M.J. Yañez
;
T. Marín
;
E. Balboa
;
KLEIN POSTERNACK, ANDRES DAVID
;
A.R. Alvarez
Scopus© Citations 23 1
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Rab24 interacts with the Rab7/Rab interacting lysosomal protein complex to regulate endosomal degradation
(2016)
Celina Amaya
;
Rodrigo D. Militello
;
SEBASTIAN DANTE CALLIGARIS CAPRIOGLIO
;
María I. Colombo
18Scopus© Citations 37

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