9 Publikationen

Alle markieren

[9]
2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2943713
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC (2020)
International journal of molecular sciences 21(10): 3448.
PUB | DOI | WoS | PubMed | Europe PMC
 
[8]
2020 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2945204
Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Oliveira Silva T, Schwartz IVD, Gartner J, De Castro M, Costin C, et al. (2020)
Journal of inherited metabolic disease.
PUB | DOI | WoS | PubMed | Europe PMC
 
[7]
2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2941491 OA
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 OS, Ferreira CR, Dierks T, Radhakrishnan K (2020)
Molecular genetics & genomic medicine 8(9): e1167.
PUB | PDF | DOI | WoS | PubMed | Europe PMC
 
[6]
2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933913
Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency
Schlotawa L, Wachs M, Bernhard O, Mayer FJ, Dierks T, Schmidt B, Radhakrishnan K (2019)
In: MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM, 126(2). San Diego: ACADEMIC PRESS INC ELSEVIER SCIENCE: S131-S132.
PUB | DOI | WoS
 
[5]
2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933914
Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings
Silva TO, Souza CFM, Rocha JWB, Brusius-Facchin AC, Michellin-Tirelli K, Burin MG, Giugliani R, Radhakrishnan K, Schlotawa L, Dierks T, Schwartz IVD (2019)
In: MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM, 126(2). ACADEMIC PRESS INC ELSEVIER SCIENCE,: S135-S136.
PUB | DOI | WoS
 
[4]
2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018 OA
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase
Schlotawa L, Wachs M, Bernhard O, Mayer FJ, Dierks T, Schmidt B, Radhakrishnan K (2018)
Cell Reports 24(1): 27-37.e4.
PUB | PDF | DOI | WoS | PubMed | Europe PMC
 
[3]
2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520
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, Koppenhoefer D, Babicz M, Lejman M, Radhakrishnan K, Lugowska A (2017)
MOLECULAR GENETICS AND METABOLISM 121(3): 252-258.
PUB | DOI | WoS | PubMed | Europe PMC
 
[2]
2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450
Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction
Peng J, Alam S, Radhakrishnan K, Mariappan M, Rudolph MG, May C, Dierks T, von Figura K, Schmidt B (2015)
FEBS Journal 282(17): 3262-3274.
PUB | DOI | WoS | PubMed | Europe PMC
 
[1]
2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency
Schlotawa L, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T, Gaertner J (2013)
European Journal Of Human Genetics 21(9): 1020-1023.
PUB | DOI | WoS | PubMed | Europe PMC
 

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9 Publikationen

Alle markieren

[9]
2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2943713
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC (2020)
International journal of molecular sciences 21(10): 3448.
PUB | DOI | WoS | PubMed | Europe PMC
 
[8]
2020 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2945204
Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Oliveira Silva T, Schwartz IVD, Gartner J, De Castro M, Costin C, et al. (2020)
Journal of inherited metabolic disease.
PUB | DOI | WoS | PubMed | Europe PMC
 
[7]
2020 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2941491 OA
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 OS, Ferreira CR, Dierks T, Radhakrishnan K (2020)
Molecular genetics & genomic medicine 8(9): e1167.
PUB | PDF | DOI | WoS | PubMed | Europe PMC
 
[6]
2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933913
Protein disulfide isomerase is a possible target for disease modification in multiple sulfatase deficiency
Schlotawa L, Wachs M, Bernhard O, Mayer FJ, Dierks T, Schmidt B, Radhakrishnan K (2019)
In: MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM, 126(2). San Diego: ACADEMIC PRESS INC ELSEVIER SCIENCE: S131-S132.
PUB | DOI | WoS
 
[5]
2019 | Kurzbeitrag Konferenz / Poster | Veröffentlicht | PUB-ID: 2933914
Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings
Silva TO, Souza CFM, Rocha JWB, Brusius-Facchin AC, Michellin-Tirelli K, Burin MG, Giugliani R, Radhakrishnan K, Schlotawa L, Dierks T, Schwartz IVD (2019)
In: MOLECULAR GENETICS AND METABOLISM. MOLECULAR GENETICS AND METABOLISM, 126(2). ACADEMIC PRESS INC ELSEVIER SCIENCE,: S135-S136.
PUB | DOI | WoS
 
[4]
2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2921018 OA
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase
Schlotawa L, Wachs M, Bernhard O, Mayer FJ, Dierks T, Schmidt B, Radhakrishnan K (2018)
Cell Reports 24(1): 27-37.e4.
PUB | PDF | DOI | WoS | PubMed | Europe PMC
 
[3]
2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520
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, Koppenhoefer D, Babicz M, Lejman M, Radhakrishnan K, Lugowska A (2017)
MOLECULAR GENETICS AND METABOLISM 121(3): 252-258.
PUB | DOI | WoS | PubMed | Europe PMC
 
[2]
2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450
Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction
Peng J, Alam S, Radhakrishnan K, Mariappan M, Rudolph MG, May C, Dierks T, von Figura K, Schmidt B (2015)
FEBS Journal 282(17): 3262-3274.
PUB | DOI | WoS | PubMed | Europe PMC
 
[1]
2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency
Schlotawa L, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T, Gaertner J (2013)
European Journal Of Human Genetics 21(9): 1020-1023.
PUB | DOI | WoS | PubMed | Europe PMC
 

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