Caterina Terrile

TL;DR: The power of transcriptome sequencing is demonstrated to molecularly diagnose 10% of mitochondriopathy patients and identify candidate genes for the remainder, and examples of intronic loss-of-function variants with pathological relevance are provided.

TL;DR: Clinical relevant variants in FLAD1, which encodes FAD synthase (FADS), are reported as the cause of MADD and respiratory-chain dysfunction in nine individuals recruited from metabolic centers in six countries and shed light on the mechanisms by which FADS ensures cellular FAD homeostasis.

TL;DR: Immunoblot analysis of mutant fibroblasts showed reduced protein levels of NBAS and its proposed interaction partner p31, both involved in retrograde transport between endoplasmic reticulum and Golgi, and recommend NBAS analysis in individuals with acute infantile liver failure, especially if triggered by fever.

TL;DR: Exome sequencing in a 16-year-old adolescent suffering from an infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy and peripheral neuropathy, uncovered a homozygous stop mutation in TXN2, suggesting an important role of reactive oxygen species homeostasis for human neuronal maintenance and energy metabolism.

TL;DR: Mutations in NBAS cause a complex disease with a wide clinical spectrum ranging from isolated RALF to a multisystemic phenotype, and identification of NBAS deficiency allows optimized therapy of liver crises and even prevention of further episodes.