Novel fetal phenotype of TAF8 deficiency.

TAF8 is part of the transcription factor TFIID complex. TFIID is crucial for recruiting the transcription factor complex containing RNA polymerase II. TAF8 deficiency was recently reported as causing a severe neurodevelopmental disorder in eight patients.

NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems.

NGLY1 is an enigmatic enzyme with multiple functions across a wide range of species. In humans, pathogenic genetic variants in are linked to a variable phenotype of global neurological dysfunction, abnormal tear production, and liver disease presenting the rare autosomal recessive disorder N-glycanase deficiency. We have ascertained four NGLY1 deficiency patients who were found to carry a homozygous nonsense variant (c.

Fly neurons in culture: a model for neural development and pathology.

Primary neural cultures from the fruit fly, Drosophila melanogaster, enable a high-resolution glance into cellular processes and neuronal interaction. The development of the culture, along with its vitality and functionality, can be continuously monitored, and the abundance of available tools for D. melanogaster research can greatly assist in characterizing different aspects of the culture.