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Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I

Molecular therapy, 2016-04, Vol.24 (4), p.719-725

2016

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PrimPol, an Archaic Primase/Polymerase Operating in Human Cells

Molecular cell, 2013-11, Vol.52 (4), p.541-553

2013

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Specific Inhibition of Hepatic Lactate Dehydrogenase Reduces Oxalate Production in Mouse Models of Primary Hyperoxaluria

Molecular therapy, 2018-08, Vol.26 (8), p.1983-1995

2018

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Circulating urokinase receptor as a cause of focal segmental glomerulosclerosis

Nature medicine, 2011-08, Vol.17 (8), p.952-960

2011

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Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization with Oxalobacter

American journal of physiology: Gastrointestinal and liver physiology, 2011-03, Vol.300 (3), p.G461-G469

2011

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CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I

Nature communications, 2018-12, Vol.9 (1), p.5454-9, Article 5454

2018

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Phosphorylation of Thr9 Affects the Folding Landscape of the N-Terminal Segment of Human AGT Enhancing Protein Aggregation of Disease-Causing Mutants

Molecules (Basel, Switzerland), 2022-12, Vol.27 (24), p.8762

2022

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New Insights Into Pathophysiology of β-Thalassemia

Frontiers in medicine, 2022-04, Vol.9, p.880752-880752

2022

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Epigenomic and transcriptional profiling identifies impaired glyoxylate detoxification in NAFLD as a risk factor for hyperoxaluria

Cell reports (Cambridge), 2021-08, Vol.36 (8), p.109526-109526, Article 109526

2021

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Low‐affinity immunoglobulin gamma Fc region receptor III‐B (FcγRIIIB, CD16B) deficiency in patients with blood and immune system disorders

British journal of haematology, 2021-12, Vol.195 (5), p.743-747

2021

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The lower limits for protein stability and foldability in primary hyperoxaluria type I

Biochimica et biophysica acta. Proteins and proteomics, 2014-12, Vol.1844 (12), p.2355-2365

2014

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Transient Expression of Transgenic IL-12 in Mouse Liver Triggers Unremitting Inflammation Mimicking Human Autoimmune Hepatitis

The Journal of immunology (1950), 2016-09, Vol.197 (6), p.2145-2156

2016

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Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

Scientific reports, 2018-03, Vol.8 (1), p.4170-12, Article 4170

2018

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Contribution of Cyclooxygenase End Products and Oxidative Stress to Intrahepatic Endothelial Dysfunction in Early Non-Alcoholic Fatty Liver Disease

PloS one, 2016-05, Vol.11 (5), p.e0156650-e0156650

2016

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Structural basis of the pleiotropic and specific phenotypic consequences of missense mutations in the multifunctional NAD(P)H:quinone oxidoreductase 1 and their pharmacological rescue

Redox biology, 2021-10, Vol.46, p.102112-102112, Article 102112

2021

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The Value of Mouse Models of Rare Diseases: A Spanish Experience

Frontiers in genetics, 2020-10, Vol.11, p.583932-583932

2020

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Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

European journal of human genetics : EJHG, 2013-02, Vol.21 (2), p.162-172

2013

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Alanine-Glyoxylate Aminotransferase-Deficient Mice, a Model for Primary Hyperoxaluria That Responds to Adenoviral Gene Transfer

Proceedings of the National Academy of Sciences - PNAS, 2006-11, Vol.103 (48), p.18249-18254

2006

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The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I

PloS one, 2013-08, Vol.8 (8), p.e71963-e71963

2013

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Oral Treatment With an Engineered Uricase, ALLN-346, Reduces Hyperuricemia, and Uricosuria in Urate Oxidase-Deficient Mice

Frontiers in medicine, 2020-11, Vol.7, p.569215-569215

2020

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Are there differences in basal thrombophilias and C-reactive protein between women with or without PCOS?

Reproductive biomedicine online, 2019-06, Vol.38 (6), p.1018-1026

2019

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Protein Homeostasis Defects of Alanine-Glyoxylate Aminotransferase: New Therapeutic Strategies in Primary Hyperoxaluria Type I

BioMed research international, 2013-01, Vol.2013 (2013), p.1-15

2013

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Transcriptomic rationale for synthetic lethality‐targeting ERCC1 and CDKN1A in chronic myelomonocytic leukaemia

British journal of haematology, 2018-08, Vol.182 (3), p.373-383

2018

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Beta human papillomavirus as a facilitator in the initial phase but not a perpetuator of skin carcinogenesis

JEADV clinical practice, 2023-12, Vol.2 (4), p.958-962

2023

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Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I

PrimPol, an Archaic Primase/Polymerase Operating in Human Cells

Specific Inhibition of Hepatic Lactate Dehydrogenase Reduces Oxalate Production in Mouse Models of Primary Hyperoxaluria

Circulating urokinase receptor as a cause of focal segmental glomerulosclerosis

Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization with Oxalobacter

CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I

Phosphorylation of Thr9 Affects the Folding Landscape of the N-Terminal Segment of Human AGT Enhancing Protein Aggregation of Disease-Causing Mutants

Spanish registry of hemoglobinopathies and rare anemias (REHem-AR): demographics, complications, and management of patients with β-thalassemia

New Insights Into Pathophysiology of β-Thalassemia

Epigenomic and transcriptional profiling identifies impaired glyoxylate detoxification in NAFLD as a risk factor for hyperoxaluria

Low‐affinity immunoglobulin gamma Fc region receptor III‐B (FcγRIIIB, CD16B) deficiency in patients with blood and immune system disorders

The lower limits for protein stability and foldability in primary hyperoxaluria type I

Transient Expression of Transgenic IL-12 in Mouse Liver Triggers Unremitting Inflammation Mimicking Human Autoimmune Hepatitis

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

Contribution of Cyclooxygenase End Products and Oxidative Stress to Intrahepatic Endothelial Dysfunction in Early Non-Alcoholic Fatty Liver Disease

Structural basis of the pleiotropic and specific phenotypic consequences of missense mutations in the multifunctional NAD(P)H:quinone oxidoreductase 1 and their pharmacological rescue

The Value of Mouse Models of Rare Diseases: A Spanish Experience

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

Alanine-Glyoxylate Aminotransferase-Deficient Mice, a Model for Primary Hyperoxaluria That Responds to Adenoviral Gene Transfer

The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I

Oral Treatment With an Engineered Uricase, ALLN-346, Reduces Hyperuricemia, and Uricosuria in Urate Oxidase-Deficient Mice

Are there differences in basal thrombophilias and C-reactive protein between women with or without PCOS?

Protein Homeostasis Defects of Alanine-Glyoxylate Aminotransferase: New Therapeutic Strategies in Primary Hyperoxaluria Type I

Transcriptomic rationale for synthetic lethality‐targeting ERCC1 and CDKN1A in chronic myelomonocytic leukaemia

Beta human papillomavirus as a facilitator in the initial phase but not a perpetuator of skin carcinogenesis

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