PUBLICATIONS

Encarnação M, Coutinho MF, Silva L, Ribeiro D, Ouesleti S, Campos T, Santos H, Martins E, Cardoso MT, Vilarinho L, Alves S. Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants. Int J Mol Sci. 2020 Sep 1;21(17):E6355. doi: 10.3390/ijms21176355.

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, and Alves S. NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient. Molecular Genetics & Genomic Medicine. 2020 (in PRESS).

Matos L, Vilela R, Rocha M, Santos JI, Coutinho MF, Gaspar P, Prata MJ, Alves S. Development of an antisense oligonucleotide-mediated exon skipping therapeutic strategy for Mucolipidosis II: validation at RNA level. Hum Gene Ther. 2020 Apr 13. doi: 10.1089/hum.2020.034.

Duarte AJ, Ribeiro D, Santos R, Moreira L, Bragança J, Amaral O. Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation. Stem Cell Res. 2020 May;45:101794. doi: 10.1016/j.scr.2020.101794.

Quint M, Amaral O. Lessons from Ciência Viva: how teaching human genetics to XXIst century students must go beyond the classroom. Eur J Hum Genet. 2020 May;28(5):533-534. doi: 10.1038/s41431-019-0541-z.

Coutinho MF, Encarnação M, Matos L, Silva L, Ribeiro D, Santos JI, Prata MJ, Vilarinho L, Alves S. Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on its Pathogenicity. Diagnostics (Basel). 2020;10(2):E58.

Santos R, Amaral O. Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy. Int J Mol Sci. 2019 Nov 24;20(23):5897. doi: 10.3390/ijms20235897.

Coelho MP, Correia J, Dias A, Nogueira C, Bandeira A, Martins E, Vilarinho L. Iron-sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduria. JIMD Rep. 2019 Jul 24;49(1):11-16. doi: 10.1002/jmd2.12058.

Cristina Pereira, Carolina Fischinger de Souza, Leonardo Vedolin, Filippo Vairo, Cláudia Lorea, Cláudia Sobreira, Célia Nogueira, Laura Vilarinho. Leigh Syndrome Due to mtDNA Pathogenic Variants. J. inborn errors metab. screen. vol.7, Porto Alegre 2019. http://dx.doi.org/10.1590/2326-4594-jiems-2018-0003

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. Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction. Mitochondrion. 2019 Jul;47:309-317. doi: 10.1016/j.mito.2019.02.006.

Célia Nogueira, Lisbeth Silva, Cristina Pereira, Altina Lopes, Marisa Encarnação, Maria Francisca Coutinho, Olga Amaral, Sandra Alves, Laura Vilarinho. DESVENDAR “DEScobrir, VENcer as Doenças rARas”. Observações – Boletim Epidemiológico 2019, 2ª serie, nº Especial 11:73-76, ISSN: 2183-8873

Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Günes N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, Petersen C, Alves S, Saavedra GD, Schwartz IV, Muschol N, Kutsche K, Pohl S. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations. Hum Mutat. 2019 Mar 18. doi: 10.1002/humu.23748.

Duarte AJ, Ribeiro D, Santos R, Moreira L, Bragança J, Amaral O. Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene. Stem Cell Res. 2019 Dec;41:101595. doi:10.1016/j.scr.2019.101595

Duarte AJ, Ribeiro D, Moreira L, Amaral O. In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses. Int J Mol Sci. 2018 Oct 31;19(11):3409. doi: 10.3390/ijms19113409.

Ouesleti S, Coutinho MF, Ribeiro I, Miled A, Mosbahi DS, Alves S. Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. World J Pediatr. 2017 Jan 19. doi: 10.1007/s12519-017-0005-x.

Duarte AJ, Ribeiro D, Oliveira P, Amaral O. Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment? Arch Med Res. 2017 Apr;48(3):263-269. doi: 10.1016/j.arcmed.2017.04.001.

Cruz S, Taipa R, Nogueira C, Pereira C, Almeida LS, Neiva R, Geraldes T, Guimarães A, Melo-Pires M, Vilarinho L. Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders. Muscle Nerve. 2017 Nov;56(5):868-872. doi: 10.1002/mus.25593.

Vilarinho L, Nogueira C. PCR in the Analysis of Clinical Samples: Prenatal and Postnatal Diagnosis of Inborn Errors of Metabolism. Methods Mol Biol. 2017;1620:213-224. doi: 10.1007/978-1-4939-7060-5_15.

Encarnação M, Espada L, Escrevente C, Mateus D, Ramalho J, Michelet X, Santarino I, Hsu VW, Brenner MB, Barral DC, and Vieira OV. A Rab3a-dependent complex essential for lysosome positioning and plasma membrane repair. Journal of Cell Biology. 2016; 213 (6), 631-640. https://doi.org/10.1083/jcb.201511093

Coutinho MF, Encarnação M, Laranjeira F, Lacerda L, Prata MJ, Alves S. Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta. J Pediatr Endocrinol Metab. 2016 Oct 1;29(10):1225-1228.

Coutinho MF, Santos JI, Alves S. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int J Mol Sci. 2016;17(7).

Matos L, Gonçalves V, Pinto E, Laranjeira F, Prata MJ, Jordan P, Desviat LR, Pérez B, Alves S. Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II. Biochim Biophys Acta. 2015;1852:2712-21.

Duarte AJ, Ribeiro D, Chaves J, Amaral O. Characterization of a rare Unverricht-Lundborg disease mutation. Mol Genet Metab Rep. 2015 Aug 5;4:68-71. doi: 10.1016/j.ymgmr.2015.07.005.

De Pace R, Velho RV, Encarnação M, Marschner K, Braulke T, Pohl S. Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex. Human Mol Genet. 2015 Dec 24(23): 6826–6835