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» Authors » Karthikeyan Radhakrishnan

Karthikeyan Radhakrishnan

Explore the profile of Karthikeyan Radhakrishnan including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 20
Citations 244
Followers 0
Related Specialties
Biochemistry
Cell Biology
Molecular Biology
Top 10 Co-Authors
Thomas Dierks
Lars Schlotawa
Bernhard Schmidt
Jutta Gartner
Rebecca C Ahrens-Nicklas
Kurt von Figura
Malaiyalam Mariappan
Peter Schu
Laura A Adang
Michaela Wachs
Published In
J Biol Chem
J Inherit Metab Dis
Eur J Hum Genet
J Cell Sci
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Recent Articles
1.
Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations
Tricoli L, Sase S, Hacker J, Pham V, Smith S, Chappell M, et al.
bioRxiv . 2024 Apr; PMID: 38559013
Metachromatic leukodystrophy (MLD) is a fatal lysosomal storage disease (LSD) characterized by the deficient enzymatic activity of arylsulfatase A (ARSA). Combined autologous hematopoietic stem cell transplant (HSCT) with lentiviral (LV)...
2.
Biochemical signatures of disease severity in multiple sulfatase deficiency
Adang L, Mowafy S, Herbst Z, Zhou Z, Schlotawa L, Radhakrishnan K, et al.
J Inherit Metab Dis . 2023 Oct; 47(2):374-386. PMID: 37870986
Sulfatases catalyze essential cellular reactions, including degradation of glycosaminoglycans (GAGs). All sulfatases are post-translationally activated by the formylglycine generating enzyme (FGE) which is deficient in multiple sulfatase deficiency (MSD), a...
3.
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency
Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas R, Baud M, Berulava T, et al.
EMBO Mol Med . 2023 Feb; 15(3):e14837. PMID: 36789546
Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine-generating enzyme (FGE). FGE is essential for the posttranslational activation...
4.
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency
Sorrentino N, Presa M, Attanasio S, Cacace V, Sofia M, Zuberi A, et al.
J Inherit Metab Dis . 2022 Nov; 46(2):335-347. PMID: 36433920
Multiple sulfatase deficiency (MSD) is an ultrarare lysosomal storage disorder due to deficiency of all known sulfatases. MSD is caused by mutations in the Sulfatase Modifying Factor 1 (SUMF1) gene...
5.
Comparative Study of Antifungal Efficacy of Various Endodontic Irrigants with and without Clotrimazole in Extracted Teeth Inoculated with
Srinivasan S, Velusamy G, Munshi M, Radhakrishnan K, Tiwari R
J Contemp Dent Pract . 2021 Apr; 21(12):1325-1330. PMID: 33893253
Aim And Objective: To assess the application of clotrimazole (1%) as a complementary antifungal agent along with sodium hypochlorite (5.25%), chlorhexidine gluconate (2%), and doxycycline hydrochloride (5%) against . Materials...
6.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease
Adang L, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, et al.
J Inherit Metab Dis . 2020 Aug; 43(6):1298-1309. PMID: 32749716
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes formylglycine-generating enzyme (FGE), a protein required for sulfatase activation. The clinical course...
7.
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification
Schlotawa L, Adang L, Radhakrishnan K, Ahrens-Nicklas R
Int J Mol Sci . 2020 May; 21(10). PMID: 32414121
Multiple sulfatase deficiency (MSD, MIM #272200) is an ultra-rare disease comprising pathophysiology and clinical features of mucopolysaccharidosis, sphingolipidosis and other sulfatase deficiencies. MSD is caused by impaired posttranslational activation of...
8.
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency
Staretz-Chacham O, Schlotawa L, Wormser O, Golan-Tripto I, Birk O, Ferreira C, et al.
Mol Genet Genomic Med . 2020 Feb; 8(9):e1167. PMID: 32048457
Background: Multiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation. Impeded by a lack of...
9.
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase
Schlotawa L, Wachs M, Bernhard O, Mayer F, Dierks T, Schmidt B, et al.
Cell Rep . 2018 Jul; 24(1):27-37.e4. PMID: 29972788
Multiple sulfatase deficiency (MSD) is a fatal, inherited lysosomal storage disorder characterized by reduced activities of all sulfatases in patients. Sulfatases require a unique post-translational modification of an active-site cysteine...
10.
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease
Jaszczuk I, Schlotawa L, Dierks T, Ohlenbusch A, Koppenhofer D, Babicz M, et al.
Mol Genet Metab . 2017 Jun; 121(3):252-258. PMID: 28566233
Multiple sulfatase deficiency (MSD) is a rare inherited metabolic disease caused by defective cellular sulfatases. Activity of sulfatases depends on post-translational modification catalyzed by formylglycine-generating enzyme (FGE), encoded by the...