Publications by authors named "A Pluciennik"
Article Synopsis
- FAN1 is a crucial DNA-dependent nuclease necessary for human health, and mutations in this gene can influence the onset of diseases like Huntington's.
- The Arg507His mutation in FAN1 disrupts its interaction with PCNA, leading to decreased assembly on problematic DNA structures associated with disease.
- This mutation significantly impairs FAN1’s ability to cleave these DNA extrusions, highlighting the essential role of PCNA in maintaining genomic stability through FAN1 function.
FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism.
Proc Natl Acad Sci U S A
August 2023
Article Synopsis
- Human genome-wide association studies have identified DNA mismatch repair (MMR) genes, along with FAN1, as influential in the age of onset for Huntington's disease, showing contrary effects on CAG triplet repeat expansion.
- FAN1 functions as a nuclease that removes DNA extrahelical structures associated with triplet repeat expansion, and this process is activated by proteins like RFC and PCNA in physiological conditions.
- The study reveals that FAN1 uses a short patch excision-repair mechanism that competes with MMR, providing insight into how FAN1 helps prevent repeat expansion and clarifying the conflicting roles of MMR and FAN1 in Huntington's disease progression.
: Intradialytic hypotension (IDH) complicates 4 to 39.9% of hemodialysis (HD) sessions. Vessels' reactivity disturbances may be responsible for this complication.
View Article and Find Full Text PDFA forty-seven-year-old recipient in late period after kidney transplantation with chronic estimated glomerular filtration rate (eGFR) 30 mL/min/1.73 m, fully vaccinated against COVID-19 was diagnosed with SARS-CoV-2 infection in November 2021. After an initially mild course of the disease, he developed multiorgan failure requiring periodic respiratory and dialysis therapy.
View Article and Find Full Text PDFSpinal and bulbar muscular atrophy (SBMA) is a neurodegenerative and neuromuscular genetic disease caused by the expansion of a polyglutamine-encoding CAG tract in the androgen receptor (AR) gene. The AR is an important transcriptional regulator of the nuclear hormone receptor superfamily; its levels are regulated in many ways including by ubiquitin-dependent degradation. Ubiquitination is a post-translational modification (PTM) which plays a key role in both AR transcriptional activity and its degradation.
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