SELECCIÓN DE LAS 10 MEJORES PUBLICACIONES EN LOS 5 ÚLTIMOS AÑOS


2018


1. Brasil S, et al. New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type. Biochim Biophys Acta. 2018 Feb;1864(2):640-648. doi: 10.1016/j.bbadis.2017.11.024.

PMID: 29197662

https://www.ncbi.nlm.nih.gov/pubmed/29197662Este enlace se abrirá en una ventana nueva


2. Gámez A, et al. Protein misfolding diseases: Prospects of pharmacological treatment. Clin Genet. 2018 Mar;93(3):450-458. doi: 10.1111/cge.13088. Review.

PMID: 28671287

https://www.ncbi.nlm.nih.gov/pubmed/28671287Este enlace se abrirá en una ventana nueva


3. Richard E, et al. Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria. Oxid Med Cell Longev. 2018 Mar 20;2018:1246069. doi: 10.1155/2018/1246069. eCollection 2018.

PMID:29743968

https://www.ncbi.nlm.nih.gov/pubmed/29743968Este enlace se abrirá en una ventana nueva


4. Richard E, et al. Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type. Stem Cell Res. 2018 May;29:143-147. doi: 10.1016/j.scr.2018.03.021.

PMID: 29660608.

https://www.ncbi.nlm.nih.gov/pubmed/29660608Este enlace se abrirá en una ventana nueva


5. Brasil S, et al. Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants. Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y

PMID:30041674

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057060/Este enlace se abrirá en una ventana nueva


2017


6. Yuste-Checa P, et al. Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG. Hum Mutant. 2017. 2017 Feb;38(2):160-168. doi: 10.1002/humu.23138.

PMID: 27774737

https://www.ncbi.nlm.nih.gov/pubmed/27774737Este enlace se abrirá en una ventana nueva


7. Bravo Alonso I, et al. Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. Hum Mutat. 2017 Jun;38(6):678-691. doi: 10.1002/humu.23208.

PMID: 28244183

https://www.ncbi.nlm.nih.gov/pubmed/28244183Este enlace se abrirá en una ventana nueva


8. Yuste-Checa P, et al. DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress. PLoS One. 2017 Jun 29;12(6):e0179456. doi: 10.1371/journal.pone.0179456. eCollection 2017.

PMID: 28662078

https://www.ncbi.nlm.nih.gov/pubmed/28662078Este enlace se abrirá en una ventana nueva


2016


9. Vega AI, et al. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. Genet Med. 2016 Oct;18(10):1037-43. doi: 10.1038/gim.2015.217.

PMID: 26913919.

https://www.ncbi.nlm.nih.gov/pubmed/26913919Este enlace se abrirá en una ventana nueva


2015


10. Yuste-Checa P, et al. The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. Hum Mutat. 2015 Sep;36(9):851-60. doi: 10.1002/humu.22817.

PMID: 26014514.

https://www.ncbi.nlm.nih.gov/pubmed/26014514Este enlace se abrirá en una ventana nueva