Inborn errors of metabolism institute research student group

2024

A close-up view of the Hunter syndrome

Ramírez, C. C., Alméciga-Díaz, C. J., Martín-Rufián, M., Cárdenas-García, C., Espejo-Mojica, A. J., Lobo, C. & Benincore, E. P., 12 Feb 2024, In: Biochemical and Biophysical Research Communications. 696, 149490.

Research output: Contribution to journal › Article › peer-review

2023

Characterization and expression of domains of Alphaherpesvirus bovine 1/5 envelope glycoproteins B in Komagataella phaffi

Quintero Barbosa, J. S., Rojas, H. Y. T., Gonzalez, J., Espejo-Mojica, A. J., Díaz, C. J. A. & Gutierrez, M. F., Dec 2023, In: BMC Veterinary Research. 19, 1, 28.

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Efficient CRISPR/Cas9 nickase-mediated genome editing in an in vitro model of mucopolysaccharidosis IVA

Leal, A. F. & Alméciga-Díaz, C. J., Feb 2023, In: Gene Therapy. 30, 1-2, p. 107-114 8 p.

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

Genome Editing Tools for Lysosomal Storage Disorders

Gonzalez, E. A., Nader, H., Siebert, M., Suarez, D. A., Alméciga-Díaz, C. J. & Baldo, G., 2023, Advances in Experimental Medicine and Biology. Springer, p. 127-155 29 p. (Advances in Experimental Medicine and Biology; vol. 1429).

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Humoral Immune Response of Mice against a Vaccine Candidate Composed of a Chimera of gB of Bovine Alphaherpesviruses 1 and 5

Quintero Barbosa, J. S., Alméciga-Díaz, C. J., Pérez, S. E. & Gutierrez, M. F., Jul 2023, In: Vaccines. 11, 7, 1173.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice

Leal, A. F., Celik, B., Fnu, N., Khan, S., Tomatsu, S. & Alméciga-Díaz, C. J., 14 Dec 2023, In: Molecular Therapy Methods and Clinical Development. 31, 101153.

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Molecular Trojan Horses for treating lysosomal storage diseases

Leal, A. F., Inci, O. K., Seyrantepe, V., Rintz, E., Celik, B., Ago, Y., León, D., Suarez, D. A., Alméciga-Díaz, C. J. & Tomatsu, S., Nov 2023, In: Molecular Genetics and Metabolism. 140, 3, 107648.

Research output: Contribution to journal › Review article › peer-review

2 Scopus citations

Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets

Leal, A. F., Benincore-Flórez, E., Rintz, E., Herreño-Pachón, A. M., Celik, B., Ago, Y., Alméciga-Díaz, C. J. & Tomatsu, S., Jan 2023, In: International Journal of Molecular Sciences. 24, 1, 477.

Research output: Contribution to journal › Review article › peer-review

25 Scopus citations

Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks

Leal, A. F., Alméciga-Díaz, C. J. & Tomatsu, S., 09 Nov 2023, In: International Journal of Molecular Sciences. 24, 22, 16148.

Research output: Contribution to journal › Review article › peer-review

3 Scopus citations

The landscape of CRISPR/Cas9 for inborn errors of metabolism

Leal, A. F., Fnu, N., Benincore-Flórez, E., Herreño-Pachón, A. M., Echeverri-Peña, O. Y., Alméciga-Díaz, C. J. & Tomatsu, S., Jan 2023, In: Molecular Genetics and Metabolism. 138, 1, 106968.

Research output: Contribution to journal › Review article › peer-review

10 Scopus citations

2022

CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors

Leal, A. F., Cifuentes, J., Quezada, V., Benincore-Flórez, E., Cruz, J. C., Reyes, L. H., Espejo-Mojica, A. J. & Alméciga-Díaz, C. J., Sep 2022, In: International Journal of Molecular Sciences. 23, 18, 10672.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

CRISPR-Cas9 approach confirms Calcineurin-responsive zinc finger 1 (Crz1) transcription factor as a promising therapeutic target in echinocandin-resistant Candida glabrata

Ceballos-Garzon, A., Roman, E., Pla, J., Pagniez, F., Amado, D., Alméciga-Díaz, C. J., Le Pape, P. & Parra-Giraldo, C. M., 18 Mar 2022, In: PLoS ONE. 17, 3, p. 1-18 18 p., e0265777.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles

Leal, A. F., Cifuentes, J., Torres, C. E., Suárez, D., Quezada, V., Gómez, S. C., Cruz, J. C., Reyes, L. H., Espejo-Mojica, A. J. & Alméciga-Díaz, C. J., Dec 2022, In: Scientific Reports. 12, 1, 15045.

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Effect of two preservation methods on the viability and enzyme production of a recombinant Komagataella phaffii (Pichia pastoris) strain

Alvarado-Fernández, A. M., Rodríguez-López, E. A., Espejo-Mojica, A. J., Mosquera-Arévalo, A. R., Alméciga-Díaz, C. J. & Trespalacios-Rangel, A. A., Apr 2022, In: Cryobiology. 105, p. 32-40 9 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Engineering a heterologously expressed fructosyltransferase from Aspergillus oryzae N74 in Komagataella phaffii (Pichia pastoris) for kestose production

Alvarado-Obando, M., Contreras, N., León, D., Botero, L., Beltran, L., Díaz, D., Rodríguez-López, A., Reyes, L. H., Alméciga-Díaz, C. J. & Sánchez, O. F., 25 Jul 2022, In: New Biotechnology. 69, p. 18-27 10 p.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Hematological findings in lysosomal storage disorders: a perspective from the medical laboratory

Leal, A. F., Nieto, W. G., Candelo, E., Pachajoa, H. & Alméciga-Díaz, C. J., 2022, In: Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine. 33, 1, p. 28-42 15 p.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay

Benincore-Flórez, E., El-Azaz, J., Solarte, G. A., Rodríguez, A., Reyes, L. H., Alméciga-Díaz, C. J. & Cardona-Ramírez, C., Mar 2022, In: Heliyon. 8, 3, e09031.

Research output: Contribution to journal › Article › peer-review

Sphingolipids and their role in health and disease in the central nervous system

Leal, A. F., Suarez, D. A., Echeverri-Peña, O. Y., Albarracín, S. L., Alméciga-Díaz, C. J. & Espejo-Mojica, Á. J., Aug 2022, In: Advances in Biological Regulation. 85, 100900.

Research output: Contribution to journal › Review article › peer-review

8 Scopus citations

2021

Evaluation of HIV–1 derived lentiviral vectors as transductors of Mucopolysaccharidosis type IV a fibroblasts

Puentes-Tellez, M. A., Sánchez, O. F., Rojas-Rodriguez, F., Benincore-Flóre, E., Barbosa, H. & Alméciga Díaz, C. J., 15 May 2021, In: Gene. 780, 145527.

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia

Pachajoa, H., Acosta, M. A., Alméciga-Díaz, C. J., Ariza, Y., Diaz-Ordoñez, L., Caicedo-Herrera, G., Cuartas, D., Nastasi-Catanese, J. A., Ramírez-Montaño, D., Silva, Y. K., Moreno, L., Satizabal, J., Garcia, N., Montoya, J., Prada, C., Porras, G., Velasco, H. & Candelo, E., Sep 2021, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 187, 3, p. 388-395 8 p.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Sphingolipids and Cell Signaling: Relationship Between Health and Disease in the Central Nervous System

Leal, A. F., Suarez, D. A., Echeverri-Peña, O. Y., Albarracín, S. L., Alméciga-Díaz, C. J. & Espejo-Mojica, A. J., 06 Apr 2021

Research output: Teaching outputs › Other teaching products › Research › peer-review

Use of a neuron-glia genome-scale metabolic reconstruction to model the metabolic consequences of the Arylsulphatase a deficiency through a systems biology approach

Echeverri-Peña, O. Y., Salazar-Barreto, D. A., Rodríguez-Lopez, A., González, J., Alméciga-Díaz, C. J., Verano-Guevara, C. H. & Barrera, L. A., Jul 2021, In: Heliyon. 7, 7, e07671.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

2020

Advances in the development of pharmacological chaperones for the mucopolysaccharidoses

Díaz, J. C. L., Del Castillo, J. C., Rodriguez-López, E. A. & Alméciga-Díaz, C. J., 01 Jan 2020, In: International Journal of Molecular Sciences. 21, 1, 232.

Research output: Contribution to journal › Review article › peer-review

24 Scopus citations

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Puentes-Tellez, M. A., Lerma-Barbosa, P. A., Garzón-Jaramillo, R. G., Suarez, D. A., Espejo-Mojica, A. J., Guevara, J. M., Echeverri, O. Y., Solano-Galarza, D., Uribe-Ardila, A. & Alméciga-Díaz, C. J., Mar 2020, In: Heliyon. 6, 3, e03635.

Research output: Contribution to journal › Review article › peer-review

13 Scopus citations

Bone-Specific Drug Delivery for Osteoporosis and Rare Skeletal Disorders

Sawamoto, K., Álvarez, J. V., Herreño, A. M., Otero-Espinar, F. J., Couce, M. L., Alméciga-Díaz, C. J. & Tomatsu, S., 01 Oct 2020, In: Current Osteoporosis Reports. 18, 5, p. 515-525 11 p.

Research output: Contribution to journal › Review article › peer-review

10 Scopus citations

Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A

Olarte-Avellaneda, S., Cepeda Del Castillo, J., Rojas-Rodriguez, A. F., Sánchez, O., Rodríguez-López, A., Suárez García, D. A., Pulido, L. M. S. & Alméciga-Díaz, C. J., 09 Jul 2020, In: ACS Medicinal Chemistry Letters. 11, 7, p. 1377-1385 9 p.

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

Design and applications of gene therapy vectors for mucopolysaccharidosis in Colombia

Alméciga-Diaz, C. J. & Barrera, L. A., 01 Feb 2020, In: Gene Therapy. 27, 1-2, p. 104-107 4 p.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Gm2 gangliosidoses: Clinical features, pathophysiological aspects, and current therapies

Leal, A. F., Benincore-Flórez, E., Solano-Galarza, D., Jaramillo, R. G. G., Echeverri-Peña, O. Y., Suarez, D. A., Alméciga-Díaz, C. J. & Espejo-Mojica, A. J., 01 Sep 2020, In: International Journal of Molecular Sciences. 21, 17, p. 1-27 27 p., 6213.

Research output: Contribution to journal › Review article › peer-review

84 Scopus citations

Human recombinant lysosomal β-Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay-Sachs fibroblasts

Espejo-Mojica, A. J., Rodríguez-López, A., Li, R., Zheng, W., Alméciga-Díaz, C. J., Dulcey-Sepúlveda, C., Combariza, G. & Barrera, L. A., Dec 2020, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 184, 4, p. 885-895 11 p.

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Lysosomal storage diseases: current therapies and future alternatives

Leal, A. F., Espejo-Mojica, A. J., Sánchez, O. F., Ramírez, C. M., Reyes, L. H., Cruz, J. C. & Alméciga-Díaz, C. J., 01 Jul 2020, In: Journal of Molecular Medicine. 98, 7, p. 931-946 16 p.

Research output: Contribution to journal › Review article › peer-review

38 Scopus citations

The delay in cell death caused by the induction of autophagy by P2Et extract is essential for the generation of immunogenic signals in melanoma cells

Prieto, K., Lozano, M. P., Urueña, C., Alméciga-Díaz, C. J., Fiorentino, S. & Barreto, A., Dec 2020, In: Apoptosis. 25, 11-12, p. 875-888 14 p.

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Virtual Screening of Potential Inhibitors for SARS-CoV-2 Main Protease

Alméciga-Díaz, C. J., Pimentel-Vera, L. N., Caro, A., Mosquera, A., Moreno, C. A. C., Rojas, J. P. M. & Díaz-Tribaldos, D. C., 09 Apr 2020

Research output: Teaching outputs › Other teaching products › Research

2019

Characterization of Human Recombinant N-Acetylgalactosamine-6-Sulfate Sulfatase Produced in Pichia pastoris as Potential Enzyme for Mucopolysaccharidosis IVA Treatment

Rodríguez-López, A., Pimentel-Vera, L. N., Espejo-Mojica, A. J., Van Hecke, A., Tiels, P., Tomatsu, S., Callewaert, N. & Alméciga-Díaz, C. J., Aug 2019, In: Journal of Pharmaceutical Sciences. 108, 8, p. 2534-2541 8 p.

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA

Alméciga-Diaz, C. J., Hidalgo, O. A., Olarte-Avellaneda, S., Rodríguez-López, A., Guzman, E., Garzón, R., Pimentel-Vera, L. N., Puentes-Tellez, M. A., Rojas-Rodriguez, A. F., Gorshkov, K., Li, R. & Zheng, W., 11 Jul 2019, In: Journal of Medicinal Chemistry. 62, 13, p. 6175-6189 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

30 Scopus citations

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain

Cardona, C., Benincore, E., Pimentel, N., Reyes, L. H., Patarroyo, C., Rodríguez-López, A., Rufián, M. M., Barrera, L. A. & Alméciga-Díaz, C. J., May 2019, In: Heliyon. 5, 5, e01667.

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Media improvement for 10 L bioreactor production of rPOXA 1B laccase by P. pastoris

Ardila-Leal, L. D., Albarracín-Pardo, D. A., Rivera-Hoyos, C. M., Morales-Álvarez, E. D., Poutou-Piñales, R. A., Cardozo-Bernal, A. M., Quevedo-Hidalgo, B. E., Pedroza-Rodríguez, A. M., Díaz-Rincón, D. J., Rodríguez-López, A., Alméciga-Díaz, C. J. & Cuervo-Patiño, C. L., 01 Dec 2019, In: 3 Biotech. 9, 12, 447.

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments

Sawamoto, K., Stapleton, M., Alméciga-Díaz, C. J., Espejo-Mojica, A. J., Losada, J. C., Suarez, D. A. & Tomatsu, S., 01 Jul 2019, In: Drugs. 79, 10, p. 1103-1134 32 p.

Research output: Contribution to journal › Review article › peer-review

70 Scopus citations

2018

Gain-Scheduled Oxygen Concentration Control System for a Bioreactor

Arevalo, H., Sanchez, F., Ruiz, F., Guerrero, D., Patino, D., Almeciga-Diaz, C. J. & Rodriguez-Lopez, A., Nov 2018, In: IEEE Latin America Transactions. 16, 11, p. 2689-2697 9 p., 8795109.

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Gene therapy for Mucopolysaccharidoses

Sawamoto, K., Chen, H. H., Alméciga-Díaz, C. J., Mason, R. W. & Tomatsu, S., Feb 2018, In: Molecular Genetics and Metabolism. 123, 2, p. 59-68 10 p.

Research output: Contribution to journal › Review article › peer-review

58 Scopus citations

In Silico Analysis of the Structure of Fungal Fructooligosaccharides-Synthesizing Enzymes

Olarte-Avellaneda, S., Rodríguez-López, A., Patiño, J. D., Alméciga-Díaz, C. J. & Sánchez, O. F., 01 Mar 2018, In: Interdisciplinary Sciences – Computational Life Sciences. 10, 1, p. 53-67 15 p.

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

In-silico assessment of a potential pharmacological chaperone for human GALNS: evaluation in a mutated protein model

Olarte-Avellaneda, S. & Javier Almeciga-Diaz, C., 2018, In: Molecular Genetics and Metabolism.

Research output: Contribution to journal › Article

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease

Vu, M., Li, R., Baskfield, A., Lu, B., Farkhondeh, A., Gorshkov, K., Motabar, O., Beers, J., Chen, G., Zou, J., Espejo-Mojica, A. J., Rodríguez-López, A., Alméciga-Díaz, C. J., Barrera, L. A., Jiang, X., Ory, D. S., Marugan, J. J. & Zheng, W., 17 Sep 2018, In: Orphanet Journal of Rare Diseases. 13, 1, 152.

Research output: Contribution to journal › Article › peer-review

33 Scopus citations

Production and characterization of a human lysosomal recombinant iduronate-2-sulfatase produced in Pichia pastoris

Pimentel, N., Rodríguez-Lopez, A., Díaz, S., Losada, J. C., Díaz-Rincón, D. J., Cardona, C., Espejo-Mojica, Á. J., Ramírez, A. M., Ruiz, F., Landázuri, P., Poutou-Piñales, R. A., Cordoba-Ruiz, H. A., Alméciga-Díaz, C. J. & Barrera-Avellaneda, L. A., 01 Sep 2018, In: Biotechnology and Applied Biochemistry. 65, 5, p. 655-664 10 p.

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

Recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme produced in pichia pastoris as an alternative for Morquio syndrome type A ERT

Rodriguez-Lopez, A., Pimentel-Vera, L. N., Espejo-Mojica, A. J., Hidalgo, O. A., Tomatsu, S. & Almeciga-Diaz, C. J., 2018, In: Molecular Genetics and Metabolism.

Research output: Contribution to journal › Article

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center

Echeverri, O. Y., Guevara, J. M., Espejo-Mojica, Á. J., Ardila, A., Pulido, N., Reyes, M., Rodriguez-Lopez, A., Alméciga-Díaz, C. J. & Barrera, L. A., 16 Aug 2018, In: Orphanet Journal of Rare Diseases. 13, 1, 141.

Research output: Contribution to journal › Review article › peer-review

12 Scopus citations

Tailoring the AAV2 capsid vector for bone-targeting

Alméciga-Díaz, C. J., Montaño, A. M., Barrera, L. A. & Tomatsu, S., 01 Oct 2018, In: Pediatric Research. 84, 4, p. 545-551 7 p.

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

2017

Cell uptake evaluation of human recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in Pichia pastoris

Rodriguez-Lopez, A., Cardona, C., Pimentel, N., Espejo-Mojica, A. J. & Almeciga-Diaz, C. J., 2017, In: Molecular Genetics and Metabolism.

Research output: Contribution to journal › Article

Development of bone targeting drugs

Stapleton, M., Sawamoto, K., Alméciga-Díaz, C. J., Mackenzie, W. G., Mason, R. W., Orii, T. & Tomatsu, S., Jul 2017, In: International Journal of Molecular Sciences. 18, 7, 1345.

Research output: Contribution to journal › Review article › peer-review

91 Scopus citations

Human recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in a glycoengineered Escherichia coli strain

Almeciga-Diaz, C. J., Pimentel-Vera, L. N., Rodriguez-Lopez, A., Espejo-Mojica, A., Ramirez, A. M., Cardona, C., Reyes, L. H., DeLisa, M. P. & Sanchez, O. F., 2017, In: Molecular Genetics and Metabolism.

Research output: Contribution to journal › Article

Improvement in the production of the human recombinant enzyme N-acetylgalactosamine-6-sulfatase (rhGALNS) in Escherichia coli using synthetic biology approaches

Reyes, L. H., Cardona, C., Pimentel, L., Rodríguez-López, A. & Alméciga-Díaz, C. J., 01 Dec 2017, In: Scientific Reports. 7, 1, 5844.

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

Inborn errors of metabolism institute research student group

Research output

Search results