Roberta Zuntini

Learn More
Homozygous mutations in the gene for fatty acid 2-hydroxylase (FA2H) have been associated in humans with three neurodegenerative disorders: complicated spastic paraplegia (SPG35), leukodystrophy with spastic paraparesis and dystonia, and neurodegeneration with brain iron accumulation. Here, we describe a novel homozygous c.270+3A>T mutation in an Italian(More)
The development of B lymphocytes from plu-ripotent progenitors is a tightly regulated process that occurs in hemopoietic tissues, primarily embryonic liver and bone marrow in mammals (1). In these sites, lymphoid progenitors lacking Ig expression (pro-B cells) give rise to large B lymphocyte precursors (preB cells) expressing ␮ heavy chains (␮ HCs) (2 – 5)(More)
An early age at Breast Cancer (BC) onset may be a hallmark of inherited predisposition, but BRCA1/2 mutations are only found in a minority of younger BC patients. Among the others, a fraction may carry mutations in rarer BC genes, such as TP53, STK11, CDH1 and PTEN. As the identification of women harboring such mutations allows for targeted risk-management,(More)
  • 1