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ProteomicsData-independent Acquisition - Parallel Reaction Monitoring (DIA-PRM) Acquisition Reveals Alteration of Lysosomal Hydrolases in a Mouse Model of Metachromatic Leukodystrophy
For the reproducible analysis of peptides by mass spectrometry-based proteomics, data-independent acquisition (DIA) and parallel/multiple reaction monitoring (PRM/MRM) deliver unrivalled performance with respect to sensitivity and reproducibility. Both approaches come, however, with distinct advanta...
ORGANISM(S): Mus musculus (Mouse) 
2025-05-07 | PXD052313 | Pride
Dia Prm Targeted Mass spectrometry Mld Lysosomes 
ProteomicsBiallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia by impairing autophagy
Neurodevelopmental disorders have great clinical and genetic heterogeneity and are known to arise from dysfunction in components of diverse cellular pathways, the precise pathomechanism for the majority however remains elusive. We studied five patients from three unrelated families originating from ...
ORGANISM(S): Homo sapiens (Human) 
2024-10-17 | PXD044735 | Pride
Microcephaly Autophagy Zftraf1 
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