Search Results - "Reiss, Dunja D"

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1 by Barroso, Madalena, Gertzen, Marcus, Puchwein-Schwepcke, Alexandra F, Preisler, Heike, Sturm, Andreas, Reiss, Dunja D, Danecka, Marta K, Muntau, Ania C, Gersting, Søren W

“…Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. The high number of missense variants…”
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Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26 by Guder, Philipp, Lotz-Havla, Amelie S., Woidy, Mathias, Reiß, Dunja D., Danecka, Marta K., Schatz, Ulrich A., Becker, Marc, Ensenauer, Regina, Pagel, Philipp, Büttner, Lars, Muntau, Ania C., Gersting, Søren W.

“…Peroxisomal biogenesis factor PEX26 is a membrane anchor for the multi-subunit PEX1-PEX6 protein complex that controls ubiquitination and dislocation of PEX5…”
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The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase by Jank, Johanna M, Maier, Esther M, Reiβ, Dunja D, Haslbeck, Martin, Kemter, Kristina F, Truger, Marietta S, Sommerhoff, Christian P, Ferdinandusse, Sacha, Wanders, Ronald J, Gersting, Søren W, Muntau, Ania C

“…The implementation of expanded newborn screening programs reduced mortality and morbidity in medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by…”
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