Lambert P. van den Heuvel

Biochemistry, Genetics and Molecular Biology · Life Sciences

44h-index6.8kcitations95works0.02yr avg
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Research Topics

Mitochondrial Function and Pathology(42), Metabolism and Genetic Disorders(28), ATP Synthase and ATPases Research(26), RNA modifications and cancer(13), Complement system in diseases(11)

Publications95 total

Complement factor I deficiency–associated neuroinflammatory disease among Old Order Amish
Journal of Allergy and Clinical Immunology·2025Open Access
Impact of infection on proteome-wide glycosylation revealed by distinct signatures for bacterial and viral pathogens
iScience·2023· 7 citedOpen Access
Tacrolimus induces a pro-fibrotic response in donor-derived human proximal tubule cells dependent on common variants of the<i>CYP3A5</i>and<i>ABCB1</i>genes
Nephrology Dialysis Transplantation·2022· 8 citedOpen Access
Protective mechanisms harnessing against injurious heme and preventing kidney damage in STEC-HUS: toward new therapies?
Kidney International·2022· 1 cited
Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome
Frontiers in Immunology·2022· 19 citedOpen Access
Shiga Toxin 2a Induces NETosis via NOX-Dependent Pathway
Biomedicines·2021· 9 citedOpen Access
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the <i>CFH</i> gene
Human Molecular Genetics·2021· 13 citedOpen Access
Therapeutic concentrations of calcineurin inhibitors do not deregulate glutathione redox balance in human renal proximal tubule cells
PLoS ONE·2021· 12 citedOpen Access
Implications of genetic variation in the complement system in age-related macular degeneration
Progress in Retinal and Eye Research·2021· 64 citedOpen Access
Effect of rare coding variants in the CFI gene on Factor I expression levels
Human Molecular Genetics·2020· 48 citedOpen Access
Quantitative multiplex profiling of the complement system to diagnose complement‐mediated diseases
Clinical & Translational Immunology·2020· 14 citedOpen Access
Biosynthetic homeostasis and resilience of the complement system in health and infectious disease
EBioMedicine·2019· 28 citedOpen Access
Unraveling the origin of azoospermia in male cystinosis patients
EspaceINRS (National Institute for Scientific Research (Canada))·2019Open Access
A Novel Choroidal Endothelial Cell Line Has a Decreased Affinity for the Age-Related Macular Degeneration–Associated Complement Factor H Variant 402H
Investigative Ophthalmology & Visual Science·2018· 16 citedOpen Access
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
Brain·2017· 157 citedOpen Access
First Successful Conception Induced by a Male Cystinosis Patient
JIMD Reports·2017· 17 citedOpen Access
Serological and genetic complement alterations in infection-induced and complement-mediated hemolytic uremic syndrome
Pediatric Nephrology·2016· 61 citedOpen Access
Mutations in<i>COA6</i>cause Cytochrome<i>c</i>Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy
Human Mutation·2014· 81 cited
Genetic testing for podocyte genes in sporadic focal segmental glomerulosclerosis
Nephrology Dialysis Transplantation·2014· 3 citedOpen Access
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors
European Journal of Human Genetics·2014· 90 citedOpen Access
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Frequent Co-authors

Jan Smeıtınk(35), Richard J. Rodenburg(19), Leo Nijtmans(14), Frans J.M. Trijbels(6), Martijn A. Huynen(6), Saskia J.G. Hoefs(6), Cristina Ugalde(5), Hans J. C. T. Wessels(5), Peter H.G.M. Willems(5), Saskia B. Wortmann(5), Rolf J. R. J. Janssen(4), Roel Smeets(4), Marjan Huizing(4), Éva Morava(4), W. Ruitenbeek(4), Elena B. Volokhina(4), R. C. A. Sengers(3), Marieke J. H. Coenen(3), Rutger O. Vogel(3), Hanka Venselaar(3)