Sergio Castillo-Guerrero

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 37 publications

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

Journal: Molecular genetics and metabolism

Published: November 25, 2025

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Journal: American journal of human genetics

Published: October 13, 2025

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

High-resolution native electrophoresis in-gel activity assay reveals biological insights of medium-chain fatty acyl-CoA dehydrogenase deficiency.

High-resolution native electrophoresis in-gel activity assay reveals biological insights of medium-chain fatty acyl-CoA dehydrogenase deficiency.

Journal: Scientific reports

Published: June 19, 2025

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.

Journal: medRxiv : the preprint server for health sciences

Published: April 02, 2024

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment.

Journal: Nature communications

Published: February 07, 2024

AIFM1 is a component of the mitochondrial disulfide relay that drives complex I assembly through efficient import of NDUFS5.

AIFM1 is a component of the mitochondrial disulfide relay that drives complex I assembly through efficient import of NDUFS5.

Journal: The EMBO journal

Published: January 27, 2022

Complexome Profiling-Exploring Mitochondrial Protein Complexes in Health and Disease.

Complexome Profiling-Exploring Mitochondrial Protein Complexes in Health and Disease.

Journal: Frontiers in cell and developmental biology

Published: October 15, 2021

Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 24, 2021

Ablation of mitochondrial DNA results in widespread remodeling of the mitochondrial complexome.

Ablation of mitochondrial DNA results in widespread remodeling of the mitochondrial complexome.

Journal: The EMBO journal

Published: May 05, 2021

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

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

Journal: Brain : a journal of neurology

Published: March 31, 2021

Multiplexed complexome profiling using tandem mass tags.

Multiplexed complexome profiling using tandem mass tags.

Journal: Biochimica et biophysica acta. Bioenergetics

Published: January 04, 2021

Showing 1-12 of 37

Last Updated: 09/26/2026