5 Publikationen

Alle markieren

[5]
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
 
[4]
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
 
[3]
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
 
[2]
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
 
[1]
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
 

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5 Publikationen

Alle markieren

[5]
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
 
[4]
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
 
[3]
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
 
[2]
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
 
[1]
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
 

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