E-LIB Suche - Ergebnisse für: Radhakrishnan, Karthikeyan

1

Biochemical signatures of disease severity in multiple sulf..:

Adang, Laura A. ; Mowafy, Samar ; Herbst, Zackary M....
Journal of Inherited Metabolic Disease. 47 (2023) 2 - p. 374-386 , 2023

Link: https://doi.org/10.1002/..

2

Drug screening identifies tazarotene and bexarotene as ther..:

Schlotawa, Lars ; Tyka, Karolina ; Kettwig, Matthias...
EMBO Molecular Medicine. 15 (2023) 3 - p. , 2023

Link: https://doi.org/10.15252..

3

Screening of approved drugs identifies 3 generation retinoi..:

Schlotawa, Lars ; Kettwig, Matthias ; Ahrens-Nicklas, Rebecca...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107308 , 2023

Link: https://doi.org/10.1016/..

4

New mouse models with hypomorphic SUMF1 variants mimic atte..:

Sorrentino, Nicolina Cristina ; Presa, Maximiliano ; Attanasio, Sergio...
Journal of Inherited Metabolic Disease. 46 (2022) 2 - p. 335-347 , 2022

Link: https://doi.org/10.1002/..

5

A homozygous missense variant of SUMF1 in the Bedouin popul..:

Staretz‐Chacham, Orna ; Schlotawa, Lars ; Wormser, Ohad...
Molecular Genetics & Genomic Medicine. 8 (2020) 9 - p. , 2020

Link: https://doi.org/10.1002/..

6

Multiple Sulfatase Deficiency: A Disease Comprising Mucopol..:

Schlotawa, Lars ; Adang, Laura A. ; Radhakrishnan, Karthikeyan.
International Journal of Molecular Sciences. 21 (2020) 10 - p. 3448 , 2020

Link: https://doi.org/10.3390/..

7

Natural history of multiple sulfatase deficiency: Retrospec..:

Adang, Laura A. ; Schlotawa, Lars ; Groeschel, Samuel...
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1298-1309 , 2020

Link: https://doi.org/10.1002/..

8

Attenuated multiple sulfatase deficiency: Description of tw..:

Silva, Thiago O. ; Souza, Carolina F.M. ; Rocha, Joshua W.B....
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S135-S136 , 2019

Link: https://doi.org/10.1016/..

9

Protein disulfide isomerase is a possible target for diseas..:

Schlotawa, Lars ; Wachs, Michaela ; Bernhard, Olaf...
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S131-S132 , 2019

Link: https://doi.org/10.1016/..

10

Recognition and ER Quality Control of Misfolded Formylglyci..:

Schlotawa, Lars ; Wachs, Michaela ; Bernhard, Olaf...
Cell Reports. 24 (2018) 1 - p. 27-37.e4 , 2018

Link: https://doi.org/10.1016/..

11

Expanding the genetic cause of multiple sulfatase deficienc..:

Jaszczuk, Ilona ; Schlotawa, Lars ; Dierks, Thomas...
Molecular Genetics and Metabolism. 121 (2017) 3 - p. 252-258 , 2017

Link: https://doi.org/10.1016/..

12

Eukaryotic formylglycine‐generating enzyme catalyses a mono..:

Peng, Jianhe ; Alam, Sarfaraz ; Radhakrishnan, Karthikeyan...
The FEBS Journal. 282 (2015) 17 - p. 3262-3274 , 2015

Link: https://doi.org/10.1111/..

13

Proprotein Convertases Process and Thereby Inactivate Formy..:

Ennemann, Eva C. ; Radhakrishnan, Karthikeyan ; Mariappan, Malaiyalam...
Journal of Biological Chemistry. 288 (2013) 8 - p. 5828-5839 , 2013

Link: https://doi.org/10.1074/..

14

Molecular basis of multiple sulfatase deficiency, mucolipid..:

Dierks, Thomas ; Schlotawa, Lars ; Frese, Marc-André...
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1793 (2009) 4 - p. 710-725 , 2009

Link: https://doi.org/10.1016/..

15

ERp44 Mediates a Thiol-independent Retention of Formylglyci..:

Mariappan, Malaiyalam ; Radhakrishnan, Karthikeyan ; Dierks, Thomas..
Journal of Biological Chemistry. 283 (2008) 10 - p. 6375-6383 , 2008

Link: https://doi.org/10.1074/..