Sanfilippo syndrome : Molecular basis, disease models and therapeutic approaches
(2020) In International Journal of Molecular Sciences 21(21).- Abstract
Sanfilippo syndrome or mucopolysaccharidosis III is a lysosomal storage disorder caused by mutations in genes responsible for the degradation of heparan sulfate, a glycosaminoglycan located in the extracellular membrane. Undegraded heparan sulfate molecules accumulate within lysosomes leading to cellular dysfunction and pathology in several organs, with severe central nervous system degeneration as the main phenotypical feature. The exact molecular and cellular mechanisms by which impaired degradation and storage lead to cellular dysfunction and neuronal degeneration are still not fully understood. Here, we compile the knowledge on this issue and review all available animal and cellular models that can be used to contribute to increase... (More)
Sanfilippo syndrome or mucopolysaccharidosis III is a lysosomal storage disorder caused by mutations in genes responsible for the degradation of heparan sulfate, a glycosaminoglycan located in the extracellular membrane. Undegraded heparan sulfate molecules accumulate within lysosomes leading to cellular dysfunction and pathology in several organs, with severe central nervous system degeneration as the main phenotypical feature. The exact molecular and cellular mechanisms by which impaired degradation and storage lead to cellular dysfunction and neuronal degeneration are still not fully understood. Here, we compile the knowledge on this issue and review all available animal and cellular models that can be used to contribute to increase our understanding of Sanfilippo syndrome disease mechanisms. Moreover, we provide an update in advances regarding the different and most successful therapeutic approaches that are currently under study to treat Sanfilippo syndrome patients and discuss the potential of new tools such as induced pluripotent stem cells to be used for disease modeling and therapy development.
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- author
- Benetó, Noelia ; Vilageliu, Lluïsa ; Grinberg, Daniel and Canals, Isaac LU
- organization
- publishing date
- 2020
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Animal models, Cellular models, Heparan sulfate, Induced pluripotent stem cells, Lysosomal storage disorders, Mucopolysaccharidosis III, Sanfilippo syndrome, Therapeutic approaches
- in
- International Journal of Molecular Sciences
- volume
- 21
- issue
- 21
- article number
- 7819
- pages
- 20 pages
- publisher
- MDPI AG
- external identifiers
-
- scopus:85094127175
- pmid:33105639
- ISSN
- 1661-6596
- DOI
- 10.3390/ijms21217819
- language
- English
- LU publication?
- yes
- id
- e586bbad-f01e-4bb3-9c99-a544084ac325
- date added to LUP
- 2020-11-05 13:13:37
- date last changed
- 2024-06-14 01:46:14
@article{e586bbad-f01e-4bb3-9c99-a544084ac325,
abstract = {{<p>Sanfilippo syndrome or mucopolysaccharidosis III is a lysosomal storage disorder caused by mutations in genes responsible for the degradation of heparan sulfate, a glycosaminoglycan located in the extracellular membrane. Undegraded heparan sulfate molecules accumulate within lysosomes leading to cellular dysfunction and pathology in several organs, with severe central nervous system degeneration as the main phenotypical feature. The exact molecular and cellular mechanisms by which impaired degradation and storage lead to cellular dysfunction and neuronal degeneration are still not fully understood. Here, we compile the knowledge on this issue and review all available animal and cellular models that can be used to contribute to increase our understanding of Sanfilippo syndrome disease mechanisms. Moreover, we provide an update in advances regarding the different and most successful therapeutic approaches that are currently under study to treat Sanfilippo syndrome patients and discuss the potential of new tools such as induced pluripotent stem cells to be used for disease modeling and therapy development.</p>}},
author = {{Benetó, Noelia and Vilageliu, Lluïsa and Grinberg, Daniel and Canals, Isaac}},
issn = {{1661-6596}},
keywords = {{Animal models; Cellular models; Heparan sulfate; Induced pluripotent stem cells; Lysosomal storage disorders; Mucopolysaccharidosis III; Sanfilippo syndrome; Therapeutic approaches}},
language = {{eng}},
number = {{21}},
publisher = {{MDPI AG}},
series = {{International Journal of Molecular Sciences}},
title = {{Sanfilippo syndrome : Molecular basis, disease models and therapeutic approaches}},
url = {{http://dx.doi.org/10.3390/ijms21217819}},
doi = {{10.3390/ijms21217819}},
volume = {{21}},
year = {{2020}},
}