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Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.
Cerebellum
January 2025
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited condition described worldwide and characterized by a wide spectrum of heterogeneity in terms of genotype and phenotype. How sacsin loss leads to neurodegeneration is still unclear, and current knowledge indicates that sacsin is involved in multiple functional mechanisms. We hence hypothesized the existence of epigenetic factors, in particular alterations in methylation patterns, that could contribute to ARSACS pathogenesis and explain the pleiotropic effects of SACS further than pathogenic mutations.
View Article and Find Full Text PDFAPOE Christchurch enhances a disease-associated microglial response to plaque but suppresses response to tau pathology.
Mol Neurodegener
January 2025
Department of Neurobiology and Behavior, Charlie Dunlop School of Biological Sciences, University of California, Irvine, CA, 92697-4545, USA.
Background: Apolipoprotein E ε4 (APOE4) is the strongest genetic risk factor for late-onset Alzheimer's disease (LOAD). A recent case report identified a rare variant in APOE, APOE3-R136S (Christchurch), proposed to confer resistance to autosomal dominant Alzheimer's Disease (AD). However, it remains unclear whether and how this variant exerts its protective effects.
View Article and Find Full Text PDFLong-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease.
NPJ Parkinsons Dis
January 2025
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Biallelic intronic pentanucleotide repeat expansions, mainly (AAGGG)exp and/or (ACAGG)exp in RFC1, are detected in cerebellar ataxia, neuropathy and vestibular areflexia syndrome, late-onset ataxia, and in a wide disease spectrum including Charcot-Marie-Tooth disease, multiple system atrophy, and Parkinson's disease (PD). However, the genotype-phenotype correlation and underlying mechanism are mostly unknown. We screened RFC1-repeat expansions in 1445 patients with parkinsonism.
View Article and Find Full Text PDFHeme oxygenase/carbon monoxide system affects the placenta and preeclampsia.
Med Gas Res
June 2025
Department of Surgery, Queen Elizabeth Central Hospital, Blantyre, Malawi.
Preeclampsia affects 2% to 8% of pregnancies worldwide and results in significantly high maternal and perinatal morbidity and mortality, with delivery being the only definitive treatment. It is not a single disorder, but rather a manifestation of an insult(s) to the uteroplacental unit -whether maternal, fetal, and/or placental. Multiple etiologies have been implicated, including uteroplacental ischemia, maternal infection and/or inflammation, maternal obesity, sleep disorders, hydatidiform mole, maternal intestinal dysbiosis, autoimmune disorders, fetal diseases, breakdown of maternal-fetal immune tolerance, placental aging, and endocrine disorders.
View Article and Find Full Text PDFAssociation between the existence of neonatal congenital anomalies and maternal postpartum depression up to 6 months after delivery: The Japan Environment and Children's Study.
J Affect Disord
January 2025
Institute of Health and Sport Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan.
Background: Postpartum depression (PPD) is a significant public health concern; however, its association with congenital anomalies (CAs) remains understudied. This study investigated the relationship between CAs and PPD risk and identified persistent patterns of PPD among mothers of infants with and without CAs.
Methods: We analysed data from 86,464 mother-child pairs in the Japan Environment and Children's Study.
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