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Jasmin Blatterer Selected Research

Mandibuloacral dysplasia with type B lipodystrophy

7/2022An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.

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Jasmin Blatterer Research Topics

Disease

1Mucopolysaccharidoses
10/2022
1Mandibuloacral dysplasia with type B lipodystrophy
07/2022
1Progeria (Hutchinson Gilford Syndrome)
07/2022
12-Hydroxyglutaricaciduria
01/2022
1Paraplegia (Spastic Paraplegia)
02/2021
1Xeroderma Pigmentosum (Kaposi's Disease)
01/2020
1Complementation Group C Xeroderma Pigmentosum
01/2020

Drug/Important Bio-Agent (IBA)

2Proteins (Proteins, Gene)FDA Link
01/2022 - 01/2020
1ArylsulfatasesIBA
10/2022
1Initiator Codon (Start Codon)IBA
07/2022
1monoaminocarboxydihydroboraneIBA
07/2022
1AcidsIBA
01/2022
1Cytochromes b5 (Cytochrome b5)IBA
02/2021