Karthikeyan Radhakrishnan

Bielefeld, NW, Germany

Last Updated: 09/26/2026

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Found 16 publications

New structures of human formylglycine-generating enzyme reveal features important for catalysis, disease and structure-based drug design.

New structures of human formylglycine-generating enzyme reveal features important for catalysis, disease and structure-based drug design.

Journal: Journal of molecular biology

Published: February 18, 2026

Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations.

Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations.

Journal: Molecular therapy. Nucleic acids

Published: June 12, 2024

Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations.

Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations.

Journal: bioRxiv : the preprint server for biology

Published: April 01, 2024

Biochemical signatures of disease severity in multiple sulfatase deficiency.

Biochemical signatures of disease severity in multiple sulfatase deficiency.

Journal: Journal of inherited metabolic disease

Published: July 03, 2023

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.

Journal: Journal of inherited metabolic disease

Published: February 21, 2022

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.

Journal: EMBO molecular medicine

Published: July 12, 2021

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.

Journal: Journal of inherited metabolic disease

Published: March 31, 2020

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.

Journal: International journal of molecular sciences

Published: March 13, 2020

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.

Journal: Molecular genetics & genomic medicine

Published: August 22, 2019

Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.

Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.

Journal: Cell reports

Published: July 31, 2017

Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.

Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.

Journal: Molecular genetics and metabolism

Published: February 24, 2017

Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction.

Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction.

Journal: The FEBS journal

Published: March 23, 2015

Showing 1-12 of 16

Last Updated: 09/26/2026