Expanded View of the Pathophysiology of Fabry Disease
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F25%3A10500352" target="_blank" >RIV/00064165:_____/25:10500352 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/25:10500352
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=UAarN-aFgf" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=UAarN-aFgf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1159/000546555" target="_blank" >10.1159/000546555</a>
Alternative languages
Result language
angličtina
Original language name
Expanded View of the Pathophysiology of Fabry Disease
Original language description
Protein processing and maturation are intricate processes involving distinct intracellular compartments. Cellular quality control systems maintain protein homeostasis by identifying, sequestering, and eliminating damaged or misfolded proteins. Yet misfolded proteins can accumulate and overwhelm the quality control systems. This phenomenon is a hallmark of numerous pathologies, including a variety of genetic disorders. Recently Lacoste et al. showed that a significant proportion of pathogenic human variants (16% of 3,448 pathogenic or likely pathogenic missense variants across 1,269 genes) encode for proteins that are less stable and abnormally distributed across the cellular compartments. In the secretory pathway, the buildup of misfolded proteins triggers endoplasmic reticulum (ER) stress, which activates the unfolded protein response (UPR). The UPR is an adaptive mechanism that alleviates ER stress and restores cellular homeostasis. However, if ER stress is prolonged or severe, the UPR may fail to restore balance, leading to apoptosis and interstitial fibrosis.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30105 - Physiology (including cytology)
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nephron
ISSN
1660-8151
e-ISSN
2235-3186
Volume of the periodical
149
Issue of the periodical within the volume
10
Country of publishing house
CH - SWITZERLAND
Number of pages
4
Pages from-to
620-623
UT code for WoS article
001541537600001
EID of the result in the Scopus database
2-s2.0-105012396564