Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann

Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann–Pick C disease

Published:2020-01-11 Issue:2 Volume:21 Page:105-119
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Hetmańczyk-Sawicka Katarzyna,Iwanicka-Nowicka Roksana,Fogtman Anna,Cieśla Jarosław,Włodarski Paweł,Żyżyńska-Granica Barbara,Filocamo Mirella,Dardis Andrea,Peruzzo Paolo,Bednarska-Makaruk Małgorzata,Koblowska Marta,Ługowska Agnieszka^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-019-00600-6.pdf

Reference64 articles.

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2. Wraith JE, Baumgartner MR, Bembi B et al (2009) Recommendations on the diagnosis and management of Niemann-pick disease type C. Mol Genet Metab 98:152–165

3. Spiegel R, Raas-Rothschild A, Reish O et al (2009) The clinical spectrum of fetal Niemann-pick type C. Am J Med Genet A 149A:446–450

4. Patterson MC, Clayton P, Gissen P et al (2017) Recommendations for the detection and diagnosis of Niemann-pick disease type C. Neurol Clin Pract 7:499–511

5. Li X, Saha P, Li J et al (2016) Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2. Proc Natl Acad Sci U S A 113(36):10079–10084

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