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NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.
Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Ribeiro I, Chaves P, Santos JI, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S. Encarnação M, et al. Among authors: leao teles e. Mol Genet Genomic Med. 2020 Nov;8(11):e1451. doi: 10.1002/mgg3.1451. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32931663 Free PMC article.
Golgi function and dysfunction in the first COG4-deficient CDG type II patient.
Reynders E, Foulquier F, Leão Teles E, Quelhas D, Morelle W, Rabouille C, Annaert W, Matthijs G. Reynders E, et al. Among authors: leao teles e. Hum Mol Genet. 2009 Sep 1;18(17):3244-56. doi: 10.1093/hmg/ddp262. Epub 2009 Jun 3. Hum Mol Genet. 2009. PMID: 19494034 Free PMC article.
De Barsy syndrome and ATP6V0A2-CDG.
Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J. Leao-Teles E, et al. Eur J Hum Genet. 2010 May;18(5):526; author reply 526. doi: 10.1038/ejhg.2009.218. Epub 2009 Dec 16. Eur J Hum Genet. 2010. PMID: 20010974 Free PMC article. No abstract available.
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
Ventura FV, Leandro P, Luz A, Rivera IA, Silva MF, Ramos R, Rocha H, Lopes A, Fonseca H, Gaspar A, Diogo L, Martins E, Leão-Teles E, Vilarinho L, Tavares de Almeida I. Ventura FV, et al. Among authors: leao teles e. Clin Genet. 2014 Jun;85(6):555-61. doi: 10.1111/cge.12227. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829193
The GM2 ganglioside inhibits iNKT cell responses in a CD1d-dependent manner.
Pereira CS, Ribeiro H, Pérez-Cabezas B, Cardoso MT, Alegrete N, Gaspar A, Leão-Teles E, Macedo MF. Pereira CS, et al. Among authors: leao teles e. Mol Genet Metab. 2018 Sep;125(1-2):161-167. doi: 10.1016/j.ymgme.2018.07.005. Epub 2018 Jul 18. Mol Genet Metab. 2018. PMID: 30030044
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Nogueira C, Silva L, Pereira C, Vieira L, Leão Teles E, Rodrigues E, Campos T, Janeiro P, Gaspar A, Dupont J, Bandeira A, Martins E, Magalhães M, Sequeira S, Vieira JP, Santos H, Vilarinho S, Vilarinho L. Nogueira C, et al. Among authors: leao teles e. Mitochondrion. 2019 Jul;47:309-317. doi: 10.1016/j.mito.2019.02.006. Epub 2019 Mar 1. Mitochondrion. 2019. PMID: 30831263
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. Among authors: leao teles e. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC article.
Hyperammonaemic encephalopathy in a teenage girl.
Magalhães T, Campos T, Rodrigues E, Vasconcelos C, Fontoura M, Vilarinho L, Leão-Teles E. Magalhães T, et al. Among authors: leao teles e. J Paediatr Child Health. 2022 Jul;58(7):1270-1271. doi: 10.1111/jpc.15824. Epub 2021 Nov 2. J Paediatr Child Health. 2022. PMID: 34725893 No abstract available.
Leukocyte Imbalances in Mucopolysaccharidoses Patients.
Lopes N, Maia ML, Pereira CS, Mondragão-Rodrigues I, Martins E, Ribeiro R, Gaspar A, Aguiar P, Garcia P, Cardoso MT, Rodrigues E, Leão-Teles E, Giugliani R, Coutinho MF, Alves S, Macedo MF. Lopes N, et al. Among authors: leao teles e. Biomedicines. 2023 Jun 13;11(6):1699. doi: 10.3390/biomedicines11061699. Biomedicines. 2023. PMID: 37371793 Free PMC article.
44 results