Next Article in Journal
Identification of Cellular Factors Required for SARS-CoV-2 Replication
Next Article in Special Issue
Therapeutic Benefit of Galectin-1: Beyond Membrane Repair, a Multifaceted Approach to LGMD2B
Previous Article in Journal
Neuromolecular Underpinnings of Negative Cognitive Bias in Depression
Previous Article in Special Issue
Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Cells
Volume 10
Issue 11
10.3390/cells10113158
cells-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Review

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

by
Tomáš Zárybnický
1,
Anne Heikkinen
2,3,
Salla M. Kangas
2,4,5,
Marika Karikoski
6,
Guillermo Antonio Martínez-Nieto
6,7,
Miia H. Salo
2,4,5,
Johanna Uusimaa
4,5,8,
Reetta Vuolteenaho
2,
Reetta Hinttala
2,4,5,*,
Petra Sipilä
6,7,* and
Satu Kuure
1,9,*
1
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland
2
Biocenter Oulu, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland
3
Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, University of Oulu, P.O. Box 8000, 90014 Oulu, Finland
4
PEDEGO Research Unit, University of Oulu, P.O. Box 8000, 90014 Oulu, Finland
5
Medical Research Center, Oulu University Hospital, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland
6
Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20520 Turku, Finland
7
Turku Center for Disease Modelling (TCDM), Institute of Biomedicine, University of Turku, 20520 Turku, Finland
8
Clinic for Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, P.O. Box 20, 90029 Oulu, Finland
9
GM-Unit, Laboratory Animal Center, Helsinki Institute of Life Science, University of Helsinki, 00790 Helsinki, Finland
*
Authors to whom correspondence should be addressed.
Cells 2021, 10(11), 3158; https://doi.org/10.3390/cells10113158
Submission received: 27 September 2021 / Revised: 4 November 2021 / Accepted: 6 November 2021 / Published: 13 November 2021
(This article belongs to the Special Issue Molecular and Cellular Mechanisms of Rare Diseases)
Review Reports Versions Notes

Abstract

The modification of genes in animal models has evidently and comprehensively improved our knowledge on proteins and signaling pathways in human physiology and pathology. In this review, we discuss almost 40 monogenic rare diseases that are enriched in the Finnish population and defined as the Finnish disease heritage (FDH). We will highlight how gene-modified mouse models have greatly facilitated the understanding of the pathological manifestations of these diseases and how some of the diseases still lack proper models. We urge the establishment of subsequent international consortiums to cooperatively plan and carry out future human disease modeling strategies. Detailed information on disease mechanisms brings along broader understanding of the molecular pathways they act along both parallel and transverse to the proteins affected in rare diseases, therefore also aiding understanding of common disease pathologies.
Keywords: rare diseases; monogenic diseases; mouse models; CRISPR/Cas9; genome engineering; Finnish disease heritage rare diseases; monogenic diseases; mouse models; CRISPR/Cas9; genome engineering; Finnish disease heritage

Share and Cite

MDPI and ACS Style

Zárybnický, T.; Heikkinen, A.; Kangas, S.M.; Karikoski, M.; Martínez-Nieto, G.A.; Salo, M.H.; Uusimaa, J.; Vuolteenaho, R.; Hinttala, R.; Sipilä, P.; et al. Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage. Cells 2021, 10, 3158. https://doi.org/10.3390/cells10113158

AMA Style

Zárybnický T, Heikkinen A, Kangas SM, Karikoski M, Martínez-Nieto GA, Salo MH, Uusimaa J, Vuolteenaho R, Hinttala R, Sipilä P, et al. Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage. Cells. 2021; 10(11):3158. https://doi.org/10.3390/cells10113158

Chicago/Turabian Style

Zárybnický, Tomáš, Anne Heikkinen, Salla M. Kangas, Marika Karikoski, Guillermo Antonio Martínez-Nieto, Miia H. Salo, Johanna Uusimaa, Reetta Vuolteenaho, Reetta Hinttala, Petra Sipilä, and et al. 2021. "Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage" Cells 10, no. 11: 3158. https://doi.org/10.3390/cells10113158

APA Style

Zárybnický, T., Heikkinen, A., Kangas, S. M., Karikoski, M., Martínez-Nieto, G. A., Salo, M. H., Uusimaa, J., Vuolteenaho, R., Hinttala, R., Sipilä, P., & Kuure, S. (2021). Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage. Cells, 10(11), 3158. https://doi.org/10.3390/cells10113158

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop