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Investigación multidisciplinar y traslacional en enfermedades raras

Arbor, 2018-11, Vol.194 (789), p.468-a468

2018

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Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

Proceedings of the National Academy of Sciences - PNAS, 2007-01, Vol.104 (1), p.240-245

2007

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Eculizumab in secondary atypical haemolytic uraemic syndrome

Nephrology, dialysis, transplantation, 2017-03, Vol.32 (3), p.466-474

2017

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Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk

Proceedings of the National Academy of Sciences - PNAS, 2011-05, Vol.108 (21), p.8761-8766

2011

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Structural basis for the stabilization of the complement alternative pathway C3 convertase by properdin

Proceedings of the National Academy of Sciences - PNAS, 2013-08, Vol.110 (33), p.13504-13509

2013

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The crystal structure of iC3b-CR3 αI reveals a modular recognition of the main opsonin iC3b by the CR3 integrin receptor

Nature communications, 2022-04, Vol.13 (1), p.1955-1955, Article 1955

2022

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Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation

The Journal of clinical investigation, 2010-10, Vol.120 (10), p.3702-3712

2010

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Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease

EMBO molecular medicine, 2017-07, Vol.9 (7), p.906-917

2017

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Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy

Nature neuroscience, 2007-11, Vol.10 (11), p.1407-1413

2007

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Pleiotropic effects of cell wall amidase LytA on Streptococcus pneumoniae sensitivity to the host immune response

Infection and immunity, 2015-02, Vol.83 (2), p.591-603

2015

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Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer–Simons syndrome)

International journal of molecular sciences, 2021-06, Vol.22 (12), p.6608

2021

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Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32

Human molecular genetics, 2005-03, Vol.14 (5), p.703-712

2005

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Atypical hemolytic uremic syndrome-associated variants and autoantibodies impair binding of factor h and factor h-related protein 1 to pentraxin 3

The Journal of immunology (1950), 2012-08, Vol.189 (4), p.1858-1867

2012

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Characteristics, management and outcomes of atypical haemolytic uraemic syndrome in kidney transplant patients: a retrospective national study

Clinical kidney journal, 2021-04, Vol.14 (4), p.1173-1180

2021

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Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B

Proceedings of the National Academy of Sciences - PNAS, 2009-03, Vol.106 (11), p.4366-4371

2009

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High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3B

Frontiers in immunology, 2018-04, Vol.9, p.848

2018

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Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin

PloS one, 2009-06, Vol.4 (6), p.e5907-e5907

2009

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3D structure of the C3bB complex provides insights into the activation and regulation of the complement alternative pathway convertase

Proceedings of the National Academy of Sciences - PNAS, 2009-01, Vol.106 (3), p.882-887

2009

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Structural insights on complement activation

The FEBS journal, 2015-10, Vol.282 (20), p.3883-3891

2015

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Familial risk of developing atypical hemolytic-uremic syndrome

Blood, 2020-09, Vol.136 (13), p.1558-1561

2020

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Eculizumab Modifies Outcomes in Adults with Atypical Hemolytic Uremic Syndrome with Acute Kidney Injury

American journal of nephrology, 2018-01, Vol.48 (3), p.225-233

2018

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The α7β0 isoform of the complement regulator C4b-binding protein induces a semimature, anti-inflammatory state in dendritic cells

The Journal of immunology (1950), 2013-03, Vol.190 (6), p.2857-2872

2013

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The phosphatase activity of laforin is dispensable to rescue Epm2a.-/- mice from Lafora disease

Brain (London, England : 1878), 2014-03, Vol.137 (Pt 3), p.806-818

2014

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Genetics of atypical hemolytic uremic syndrome (aHUS)

Seminars in thrombosis and hemostasis, 2014-06, Vol.40 (4), p.422

2014

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The role of complement in C3 glomerulopathy

Molecular immunology, 2015-09, Vol.67 (1), p.21-30

2015

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Investigación multidisciplinar y traslacional en enfermedades raras

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

Eculizumab in secondary atypical haemolytic uraemic syndrome

Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk

Structural basis for the stabilization of the complement alternative pathway C3 convertase by properdin

The crystal structure of iC3b-CR3 αI reveals a modular recognition of the main opsonin iC3b by the CR3 integrin receptor

Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation

Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease

Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy

Pleiotropic effects of cell wall amidase LytA on Streptococcus pneumoniae sensitivity to the host immune response

Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer–Simons syndrome)

Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32

Atypical hemolytic uremic syndrome-associated variants and autoantibodies impair binding of factor h and factor h-related protein 1 to pentraxin 3

Characteristics, management and outcomes of atypical haemolytic uraemic syndrome in kidney transplant patients: a retrospective national study

Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B

High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3B

Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin

3D structure of the C3bB complex provides insights into the activation and regulation of the complement alternative pathway convertase

Structural insights on complement activation

Familial risk of developing atypical hemolytic-uremic syndrome

Eculizumab Modifies Outcomes in Adults with Atypical Hemolytic Uremic Syndrome with Acute Kidney Injury

The α7β0 isoform of the complement regulator C4b-binding protein induces a semimature, anti-inflammatory state in dendritic cells

The phosphatase activity of laforin is dispensable to rescue Epm2a.-/- mice from Lafora disease

Genetics of atypical hemolytic uremic syndrome (aHUS)

The role of complement in C3 glomerulopathy

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