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  4. Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions
Details

Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions

Journal
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
ISSN
0925-4439
Date Issued
2020
Author(s)
M.J. Yañez
T. Marín
E. Balboa
KLEIN POSTERNACK, ANDRES DAVID  
Facultad de Medicina Clínica Alemana Universidad del Desarrollo  
A.R. Alvarez
S. Zanlungo
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85086603125
WoS ID
WOS:000559983700019
DOI
10.1016/j.bbadis.2020.165875
URL
https://investigadores.udd.cl/handle/123456789/3673
URL Institutional Repository
http://hdl.handle.net/11447/4146
Cite this document
Yañez, M. J., Marín, T., Balboa, E., Klein, A. D., Alvarez, A. R., & Zanlungo, S. (2020). Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1866(10), 165875. https://doi.org/10.1016/j.bbadis.2020.165875
Project(s)
Uncovering modifier genes of lysosomal biology by exploiting the natural genetic variation of inbred mouse strains  
Subjects
c-abl

; 

cholesterol

; 

gaucher

; 

lysosomal storage disease

; 

lysosome

; 

niemann-pick

; 

sphingolipids

; 

brain

; 

cholesterol

; 

gaucher disease

; 

glucosylceramidase

; 

humans

; 

intracellular signaling peptides and proteins

; 

lipid metabolism

; 

lysosomes

; 

mutation

; 

neurons

; 

niemann-pick disease, type a

; 

niemann-pick disease, type c

; 

signal transduction

; 

sphingolipids

; 

vesicular transport proteins

; 

arimoclomol

; 

imatinib

; 

miglustat

; 

sphingomyelin phosphodiesterase

; 

cholesterol

; 

gba protein, human

; 

glucosylceramidase

; 

npc1 protein, human

; 

npc2 protein, human

; 

signal peptide

; 

sphingolipid

; 

vesicular transport protein

; 

apoptosis

; 

autophagy (cellular)

; 

calcium homeostasis

; 

cell activation

; 

cell viability

; 

disorders of mitochondrial functions

; 

endoplasmic reticulum stress

; 

endosome

; 

enzyme activity

; 

gaucher disease

; 

gene mutation

; 

human

; 

lipid storage

; 

liver injury

; 

loss of function mutation

; 

lysosome storage disease

; 

necroptosis

; 

nerve degeneration

; 

niemann pick disease

; 

oxidative stress

; 

pathogenesis

; 

priority journal

; 

review

; 

signal transduction

; 

brain

; 

cytology

; 

gaucher disease

; 

genetics

; 

lipid metabolism

; 

lysosome

; 

metabolism

; 

mutation

; 

nerve cell

; 

niemann pick disease

; 

pathology
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