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Items: 17

1.

RNA Therapeutics: How Far Have We Gone?

Coutinho MF, Matos L, Santos JI, Alves S.

Adv Exp Med Biol. 2019;1157:133-177. doi: 10.1007/978-3-030-19966-1_7. Review.

PMID:
31342441
2.

Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders.

Coutinho MF, Santos JI, Matos L, Alves S.

Diseases. 2016 Nov 9;4(4). pii: E33. doi: 10.3390/diseases4040033. Review.

3.

Coutinho et al. Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders. Int. J. Mol. Sci. 2016, 17, 1065.

Coutinho MF, Santos JI, Alves S.

Int J Mol Sci. 2017 Jan 17;18(1). pii: E178. doi: 10.3390/ijms18010178.

4.

Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.

Ouesleti S, Coutinho MF, Ribeiro I, Miled A, Mosbahi DS, Alves S.

World J Pediatr. 2017 Aug;13(4):374-380. doi: 10.1007/s12519-017-0005-x. Epub 2017 Jan 19.

PMID:
28101780
5.

I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis.

Singh A, Prasad R, Gupta AK, Sharma A, Alves S, Coutinho MF, Kapoor S, Mishra OP.

Indian J Pediatr. 2017 Feb;84(2):144-146. doi: 10.1007/s12098-016-2243-7. Epub 2016 Oct 27.

PMID:
27785713
6.

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta.

Coutinho MF, Encarnação M, Laranjeira F, Lacerda L, Prata MJ, Alves S.

J Pediatr Endocrinol Metab. 2016 Oct 1;29(10):1225-1228. doi: 10.1515/jpem-2016-0173.

PMID:
27710913
7.

Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.

Coutinho MF, Santos JI, Alves S.

Int J Mol Sci. 2016 Jul 4;17(7). pii: E1065. doi: 10.3390/ijms17071065. Review. Erratum in: Int J Mol Sci. 2017 Jan 17;18(1):.

8.

From rare to common and back again: 60years of lysosomal dysfunction.

Coutinho MF, Alves S.

Mol Genet Metab. 2016 Feb;117(2):53-65. doi: 10.1016/j.ymgme.2015.08.008. Epub 2015 Aug 18. Review.

PMID:
26422115
9.

From bedside to cell biology: a century of history on lysosomal dysfunction.

Coutinho MF, Matos L, Alves S.

Gene. 2015 Jan 15;555(1):50-8. doi: 10.1016/j.gene.2014.09.054. Epub 2014 Sep 29. Review.

PMID:
25275857
10.

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation.

Aggarwal S, Coutinho MF, Dalal AB, Mohamed Nurul Jain SJ, Prata MJ, Alves S.

Gene. 2014 Jun 1;542(2):266-8. doi: 10.1016/j.gene.2014.03.053. Epub 2014 Mar 28.

PMID:
24685522
11.

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).

De Pace R, Coutinho MF, Koch-Nolte F, Haag F, Prata MJ, Alves S, Braulke T, Pohl S.

Hum Mutat. 2014 Mar;35(3):368-76. doi: 10.1002/humu.22502. Epub 2014 Jan 15.

PMID:
24375680
12.

Sortilin and the risk of cardiovascular disease.

Coutinho MF, Bourbon M, Prata MJ, Alves S.

Rev Port Cardiol. 2013 Oct;32(10):793-9. doi: 10.1016/j.repc.2013.02.006. Epub 2013 Jul 31. Review. English, Portuguese.

13.

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

Coutinho MF, da Silva Santos L, Lacerda L, Quental S, Wibrand F, Lund AM, Johansen KB, Prata MJ, Alves S.

JIMD Rep. 2012;4:117-24. doi: 10.1007/8904_2011_83. Epub 2011 Oct 20.

14.

A shortcut to the lysosome: the mannose-6-phosphate-independent pathway.

Coutinho MF, Prata MJ, Alves S.

Mol Genet Metab. 2012 Nov;107(3):257-66. doi: 10.1016/j.ymgme.2012.07.012. Epub 2012 Jul 20. Review.

PMID:
22884962
15.

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.

Coutinho MF, Santos Lda S, Girisha KM, Satyamoorthy K, Lacerda L, Prata MJ, Alves S.

Am J Med Genet A. 2012 May;158A(5):1225-8. doi: 10.1002/ajmg.a.35295. Epub 2012 Apr 11. No abstract available.

PMID:
22495880
16.

Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction.

Coutinho MF, Prata MJ, Alves S.

Mol Genet Metab. 2012 Apr;105(4):542-50. doi: 10.1016/j.ymgme.2011.12.012. Epub 2011 Dec 23. Review.

PMID:
22266136
17.

Glycosaminoglycan storage disorders: a review.

Coutinho MF, Lacerda L, Alves S.

Biochem Res Int. 2012;2012:471325. doi: 10.1155/2012/471325. Epub 2011 Oct 5.

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