Publications by authors named "S A Slaugenhaupt"
Article Synopsis
- - Familial dysautonomia (FD) is a serious inherited disorder caused by a specific genetic mutation that leads to neurological and systemic issues, resulting in shorter life expectancy for those affected.
- - Researchers developed a CRISPR base editor that can precisely correct the T-to-C mutation causing FD, achieving up to 70% successful editing in cell tests and improving the inclusion of a specific gene exon by over 50%.
- - The study also included an effective delivery method using engineered adeno-associated virus vectors, demonstrating that this approach can correct genetic defects in neurons and shows promise for a potential permanent treatment for FD with minimal side effects.
Background: Isolated posterior leaflet mitral valve prolapse (PostMVP), a common form of MVP, often referred as fibroelastic deficiency, is considered a degenerative disease. PostMVP patients are usually asymptomatic and often undiagnosed until chordal rupture. The present study aims to characterize familial PostMVP phenotype and familial recurrence, its genetic background, and the pathophysiological processes involved.
View Article and Find Full Text PDFArticle Synopsis
- - Hypermobile Ehlers-Danlos syndrome (hEDS) is a common inherited connective tissue disorder, but its genetic causes are still unknown.
- - Researchers conducted whole exome sequencing on families and sporadic patients with hEDS, discovering a specific missense variant in the KLK15 gene linked to the disease.
- - By creating knock-in mice with this variant, they validated that it caused connective tissue defects, supporting the role of KLK15 gene variants in hEDS and promoting early diagnosis and improved clinical treatments.
Familial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation in the Elongator acetyltransferase complex subunit 1 (ELP1) gene. This mutation results in a tissue-specific reduction of ELP1 protein, with the lowest levels in the central and peripheral nervous systems (CNS and PNS, respectively). FD patients exhibit complex neurological phenotypes due to the loss of sensory and autonomic neurons.
View Article and Find Full Text PDF