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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 
GenomicsBiallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
PRJNA951710 | ENA
TranscriptomicsBiallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
Main purpose of the project is to investigate the consequences of loss-of-function variants of ZFTRAF1 on transcriptome profiling of the patient compared to control. In this data, we seen differential expression of genes involved in the autophagy and mRNA processing. To identify the globally dysregu...
ORGANISM(S): Homo sapiens 
2024-04-30 | GSE228834 | GEO
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