L. P. van den Heuvel

发表

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

P. Barth, J. Loeffen, R. Smeets, 1999, Annals of neurology.

Shiga Toxin 2a Induces NETosis via NOX-Dependent Pathway

C. Licht, N. Palaniyar, M. Khan, 2021, Biomedicines.

Genetic variation in ICF syndrome: Evidence for genetic heterogeneity

C. Wijmenga, G. Gimelli, R. Hansen, 2000, Human mutation.

Kidney injury rates after unilateral nephrectomy in childhood—a systematic review and meta-analysis

N. Roeleveld, W. Feitz, M. Schreuder, 2022, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Impaired ubiquitin‐proteasome‐mediated PGC‐1α protein turnover and induced mitochondrial biogenesis secondary to complex‐I deficiency

R. Rodenburg, J. Smeitink, E. Lasonder, 2012, Proteomics.

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

D. Misceo, C. Venditti, R. Wevers, 2022, Brain : a journal of neurology.

Mutation in the NDUFS4 gene of complex I abolishes cAMP‐dependent activation of the complex in a child with fatal neurological syndrome

J. Smeitink, L. P. Van den Heuvel, S. Papa, 2001, FEBS letters.

Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome

A. D. den Hollander, E. Volokhina, A. Blom, 2022, Frontiers in Immunology.

The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases

J. Smeitink, L. P. van den Heuvel, 2001, BioEssays : news and reviews in molecular, cellular and developmental biology.

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

R. Rodenburg, H. Venselaar, J. Smeitink, 2012, Biochimica et biophysica acta.

Muscle 3243A→G mutation load and capacity of the mitochondrial energy‐generating system

R. Rodenburg, M. Schuelke, B. Lucke, 2008, Annals of neurology.

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

K. Majamaa, P. Briones, L. Nijtmans, 2003, Annals of neurology.

Human NADH:Ubiquinone Oxidoreductase

J. Smeitink, R. Sengers, F. Trijbels, 2001, Journal of bioenergetics and biomembranes.

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

V. Petruzzella, J. Smeitink, L. P. Van den Heuvel, 2003, Journal of Inherited Metabolic Disease.

Human mitochondrial complex I assembly is mediated by NDUFAF1

Rutger O. Vogel, M. Zeviani, J. Smeitink, 2005, The FEBS journal.

Mitochondrial oxidative phosphorylation system assembly in man: recent achievements

J. Smeitink, M. Coenen, L. P. van den Heuvel, 2001, Current opinion in neurology.

Human Complex I Defects Can Be Resolved by Monoclonal Antibody Analysis into Distinct Subunit Assembly Patterns*

B. J. Hanson, J. Smeitink, L. P. Van den Heuvel, 2001, The Journal of Biological Chemistry.

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations

L. V. D. Heuvel, R. Sengers, J A Smeitink, 2000, Human mutation.

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

H. Omran, R. Rodenburg, C. Gilissen, 2017, Nature Genetics.

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome coxidase

Thomas D. Cuypers, M. Huynen, E. Lasonder, 2012, Genome Biology.

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.

C. Wijmenga, J. V. van Dongen, E. Strengman, 1998, American journal of human genetics.

Impact of infection on proteome-wide glycosylation revealed by distinct signatures for bacterial and viral pathogens

M. Kaforou, V. Wright, M. Levin, 2023, iScience.

Quantitative proteome profiling of respiratory virus-infected lung epithelial cells.

M. Huynen, A. Osterhaus, L. P. Van den Heuvel, 2010, Journal of proteomics.

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

R. Rodenburg, H. Venselaar, S. Wortmann, 2014, European Journal of Human Genetics.

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

A. Hoischen, M. Huynen, S. Nabuurs, 2013, Brain : a journal of neurology.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

U. Dillmann, R. Rodenburg, J. Smeitink, 2007, Journal of Medical Genetics.

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

U. Dillmann, R. Rodenburg, J. Smeitink, 2007, Journal of Medical Genetics.

A comprehensive full factorial LC‐MS/MS proteomics benchmark data set

Ron Wehrens, Jolein Gloerich, Hans J C T Wessels, 2012, Proteomics.