Katrin Kuchler
Hamburg, HH, Germany
Last Updated: 09/26/2026
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Found 8 publications
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.
Journal: American journal of human genetics
Published: October 13, 2025
High-resolution native electrophoresis in-gel activity assay reveals biological insights of medium-chain fatty acyl-CoA dehydrogenase deficiency.
Journal: Scientific reports
Published: June 19, 2025
Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1.
Journal: Journal of medicinal chemistry
Published: September 23, 2024
Multiplexed complexome profiling using tandem mass tags.
Journal: Biochimica et biophysica acta. Bioenergetics
Published: January 04, 2021
Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models.
Journal: Human molecular genetics
Published: January 29, 2020
Pum2 and TDP-43 refine area-specific cytoarchitecture post-mitotically and modulate translation of Sox5, Bcl11b, and Rorb mRNAs in developing mouse neocortex.
Journal: eLife
Published: January 15, 2020
TDP-43 enhances translation of specific mRNAs linked to neurodegenerative disease.
Journal: Nucleic acids research
Published: September 05, 2018
Showing 1-8 of 8
Last Updated: 09/26/2026