Lisa Auinger
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View article: Analysis of a non‐lethal biallelic frameshift mutation in <scp><i>ZMPSTE24</i></scp> reveals utilization of alternative translation initiation codons
Analysis of a non‐lethal biallelic frameshift mutation in <span><i>ZMPSTE24</i></span> reveals utilization of alternative translation initiation codons Open
Restrictive dermopathy (RD) is a lethal condition caused by biallelic loss‐of‐function mutations in ZMPSTE24 , whereas mutations preserving residual enzymatic activity of the ZMPSTE24 protein lead to the milder mandibuloacral dysplasia wit…
View article: An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon Open
Biallelic mutations in ZMPSTE24 are known to be associated with autosomal recessive mandibuloacral dysplasia with type B lipodystrophy (MADB) and lethal restrictive dermopathy (RD), respectively. Disease manifestation is depending on the r…