Laboratorio de Bioinformática del IQUIBICEN

Estudiantes motivados/as, becarios doctorales y postdoctorales interesados/as contactarse con el Dr. Marcelo Adrián Martí.

Five-year microevolution of a multidrug-resistant Mycobacterium tuberculosis strain within a patient with inadequate compliance to treatment
DAF Do Porto, J Monteserin, J Campos, EJ Sosa, M Matteo, F Serral, …
BMC Infectious Diseases 21 (1), 1-10

A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis
M Martín, CP Modenutti, ML Gil Rosas, V Peyret, RC Geysels, …
The Journal of Clinical Endocrinology & Metabolism

Novel Pathogenic Variants in LHX3, LHX4 and GLI2 Identified in Pediatric Patients With Congenital Hypopituitarism: From Variant Calling To Variant Testing
S Vishnopolska, MF Mercogliano, MA Camilletti, AH Mortensen, …
Journal of the Endocrine Society 5 (Supplement_1), A718-A719

Identification of FOXA2 and PNPLA6 Among Other Genes, as a Potential Risk for Pituitary Hormone Deficiency
MA Camilletti, S Vishnopolska, MF Mercogliano, AH Mortensen, …
Journal of the Endocrine Society 5 (Supplement_1), A540-A541

Clamping, bending, and twisting inter-domain motions in the misfold-recognizing portion of UDP-glucose: Glycoprotein glucosyltransferase
CP Modenutti, JIB Capurro, R Ibba, DS Alonzi, MN Song, S Vasiljević, …
Structure 29 (4), 357-370. e9

Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing
R Mendez, S Iqbal, S Vishnopolska, C Martinez, G Dibner, R Aliano, …
Ophthalmic Genetics, 1-5

The transcription factor NF-κB mediates thyrotropin-stimulated expression of thyroid differentiation markers
RC Geysels, V Peyret, M Martín, M Nazar, C Reale, CE Bernal Barquero, …
Thyroid 31 (2), 299-314

Structural modeling of a novel membrane-bound globin-coupled sensor in Geobacter sulfurreducens
D Hammerschmid, F Germani, SI Drusin, C Fagnen, CD Schuster, …
Computational and Structural Biotechnology Journal 19, 1874-1888

Biased Docking for Protein-Ligand Pose Prediction.
JP Arcon, AG Turjanski, MA Martí, S Forli
Methods in Molecular Biology (Clifton, NJ) 2266, 39-72

NEXT-GENERATION SEQUENCING IN THE DIAGNOSIS OF HYPOGONADOTROPHIC HYPOGONADISM AND POTENTIAL OLIGOGENIC MECHANISMS: DIFFICULTIES FOR ESTABLISHING THE DEFINITIVE AETIOLOGY
S Castro, F Gino Brunello, E Gabriela Sanso, A Izquierdo, L Brenzoni, …
HORMONE RESEARCH IN PAEDIATRICS 93 (SUPPL 2), 2-3

NGS IMPLEMENTATION IN A PAEDIATRIC PUBLIC HOSPITAL FOR THE DIAGNOSIS OF GENETIC ENDOCRINE DISORDERS: PRELIMINARY RESULTS USING CLINICAL EXOME
P Alejandra Scaglia, M Esnaola Azcoiti, F Villegas, C Arguelles, …
HORMONE RESEARCH IN PAEDIATRICS 93 (SUPPL 2), 6-7

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
P Gergics, C Smith, H Bando, AAL Jorge, D Rockstroh-Lippold, …
medRxiv

Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report
G Buda, RM Valdez, G Biagioli, FA Olivieri, N Affranchino, C Bouso, …
Allergy, Asthma & Clinical Immunology 16 (1), 1-6

Aromatic clusters in protein–protein and protein–drug complexes
L Esteban, MA Marti, AG Turjanski
Journal of Cheminformatics 12 (1)

Aromatic clusters in protein–protein and protein–drug complexes
E Lanzarotti, LA Defelipe, MA Marti, AG Turjanski
Journal of Cheminformatics 12, 1-9

Mycobacterium tuberculosis DosS is a Hydrogen Sulfide Sensor
R Sevalkar, J Glasgow, V Reddy, A Perlegas, S Basu, E Alipour, …
Free Radical Biology and Medicine 159, S98

Reaction of Amines with NO at room temperature and atmospheric pressure: is nitroxyl a reaction intermediate?
M Hamer, SA Suarez, M Muñoz, L Álvarez, M Marti, F Doctorovich
Pure and Applied Chemistry 1 (ahead-of-print)

Identification of novel molecular determinants of co-receptor usage in HIV-1 subtype F V3 envelope sequences
M Distefano, E Lanzarotti, MF Fernández, A Mangano, M Martí, P Aulicino
Scientific reports 10 (1), 1-9

Hno biosensor
F Doctorovich, MA MARTÍ, SÁ SUÁREZ, F Battaglini
The Underlying Mechanism of HNO Production by the Myoglobin-Mediated Oxidation of Hydroxylamine
L Álvarez, SA Suárez, PJ González, CD Brondino, F Doctorovich, …
Inorganic Chemistry 59 (12), 7939-7952

Systemic type I IFN inflammation in human ISG15 deficiency leads to necrotizing skin lesions
M Martin-Fernandez, MB García-Morato, C Gruber, SM Loza, MNH Malik, …
Cell reports 31 (6), 107633

Intellectual disability, the long way from genes to biological mechanisms
M Marti, MIP Millan, JI Young, K Walz
Journal of Translational Genetics and Genomics 4 (2), 104-113

OR15-03 High Prevalence of Gene Variants in Boys of Prepubertal Age with Clinical Suspicion of Central Hypogonadism and Low AMH
F Brunello, EG Sansó, P Scaglia, ME Azcoiti, A Berenstein, A Izquierdo, …
Journal of the Endocrine Society 4 (Supplement_1), OR15-03

MON-717 Novel GLI2 Mutations Identified in Pediatric Patients with Combined Pituitary Hormone Deficiency: One Gene, Various Genotypes
SA Vishnopolska, D Braslavsky, AC Keselman, I Bergada, RM Marino, …
Journal of the Endocrine Society 4 (Supplement_1), MON-717

Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation
CR Calandra, G Buda, SA Vishnopolska, J Oliveri, FA Olivieri, MIP Millán, …
Parkinsonism & related disorders 73, 52-54

Response to: Conjugal multiple system atrophy: Computing chance or investigating real patients?
EA Coon, PA Low, W Singer
Parkinsonism & related disorders 73, 44

Structure and function of crocodilian hemoglobins and allosteric regulation by chloride, ATP, and CO2
A Fago, C Natarajan, M Pettinati, FG Hoffmann, T Wang, RE Weber, …
American Journal of Physiology-Regulatory, Integrative and Comparative …

Conformational and Reaction Dynamic Coupling in Histidine Kinases: Insights from Hybrid QM/MM Simulations
FA Olivieri, O Burastero, SI Drusin, LA Defelipe, DE Wetzler, A Turjanski, …
Journal of chemical information and modeling 60 (2), 833-842

Integrating Omics Data to Prioritize Target Genes in Pathogenic Bacteria
MF Nicolás, MOC e Costa, PIP Ramos, MT dos Santos, E Perez-Rueda, …
Networks in Systems Biology, 217-276

The structural biology of galectin-ligand recognition: current advances in modeling tools, protein engineering, and inhibitor design
CP Modenutti, JIB Capurro, S Di Lella, MA Martí
Frontiers in chemistry 7, 823

Kinase activation by small conformational changes
ED Lopez, O Burastero, JP Arcon, LA Defelipe, NG Ahn, MA Marti, …
Journal of chemical information and modeling 60 (2), 821-832

Heterozygous GH1 p. R209H Variant Challenges the Assessment of Short Stature
D Braslavsky, N Sanguineti, P Scaglia, A Keselman, MG Ballerini, …
HORMONE RESEARCH IN PAEDIATRICS 92, 16-16

Spastic ataxia and pseudo eye-of-the-tiger sign in a familiy with a novel compound heterozygous AFG3L2 mutations
C Calandra, G Buda, S Vishnopolska, J Oliveri, F Olivieri, G Biagioli, …
MOVEMENT DISORDERS 34, S167-S168

AutoDock Bias: improving binding mode prediction and virtual screening using known protein–ligand interactions
JP Arcon, CP Modenutti, D Avendaño, ED Lopez, LA Defelipe, …
Bioinformatics 35 (19), 3836-3838

Cosolvent-based protein pharmacophore for ligand enrichment in virtual screening
JP Arcon, LA Defelipe, ED Lopez, O Burastero, CP Modenutti, X Barril, …
Journal of chemical information and modeling 59 (8), 3572-3583

OR24-2 PROP1 Directs Pituitary Differentiation through Protein Interaction and for Regulation of Gene Expression Involved in an EMT-Like Process
M Mercogliano, M Martí, A De Paul, M Perez-Millan
Journal of the Endocrine Society 3 (Supplement_1), OR24-2

SUN-245 Heterozygous GH1 p. R209H Variant within a Large Pedigree May Mimic a Growth Hormone Insensitivity Pattern
N Sanguineti, P Scaglia, D Braslavsky, A Keselman, M Ballerini, …
Journal of the Endocrine Society 3 (Supplement_1), SUN-245

MON-472 Potentially Pathogenic Variants Identified in Patients with Hypopituitarism by Molecular Inversion Probe Sequencing (MIPS), a New Molecular Approach for Low Cost Gene …
S Vishnopolska, A Mortensen, D Braslavsky, A Keselman, I Bergada, …
Journal of the Endocrine Society 3 (Supplement_1), MON-472

Gordon Holmes Syndrome caused by RNF216 novel mutation in 2 Argentinean siblings
CR Calandra, Y Mocarbel, SA Vishnopolska, V Toneguzzo, J Oliveri, …
Movement disorders clinical practice 6 (3), 259

An efficient use of X-ray information, homology modeling, molecular dynamics and knowledge-based docking techniques to predict protein–monosaccharide complexes
JI Blanco Capurro, M Di Paola, MD Gamarra, MA Martí, CP Modenutti
Glycobiology 29 (2), 124-136

A Carboxy-Terminal Monoleucine-Based Motif Participates in the Basolateral Targeting of the Na+/I− Symporter
M Martín, CP Modenutti, V Peyret, RC Geysels, E Darrouzet, T Pourcher, …
Endocrinology 160 (1), 156-168