Publications by authors named "Rita L Guerreiro"
Article Synopsis
- The study identifies 18 new individuals from 14 families with Schaaf-Yang syndrome linked to truncating mutations in the MAGEL2 gene, which is associated with developmental delays and other health issues.
- Researchers discovered a common mutational hotspot in the MAGEL2 gene, with specific mutations being predominant among affected individuals and fetal siblings.
- The findings reinforce the harmful effects of these mutations, clarify the range of symptoms associated with Schaaf-Yang syndrome, and emphasize the need for genetic counseling for families affected by this condition.
Alzheimer's disease (AD) is characterized by cerebral deposition of β-amyloid (Aβ) peptides, which are generated from amyloid precursor protein (APP) by β- and γ-secretases. APP and the secretases are membrane associated, but whether membrane trafficking controls Aβ levels is unclear. Here, we performed an RNAi screen of all human Rab-GTPases, which regulate membrane trafficking, complemented with a Rab-GTPase-activating protein screen, and present a road map of the membrane-trafficking events regulating Aβ production.
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