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PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.
Genet Epidemiol
January 2025
Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
Article Synopsis
- The introduction of Next-Generation Sequencing has advanced rare disease diagnostics, yet many cases still lack a molecular diagnosis due to the complexity of these diseases.
- The new PSAP-genomic-regions method expands on the original PSAP approach by focusing on non-coding genomic regions, allowing for a more comprehensive evaluation of variants.
- Preliminary results demonstrate that PSAP-genomic-regions effectively prioritizes significant non-coding variants, offering a valuable tool for diagnosing unresolved rare diseases, as evidenced by its success in patient data.
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Int J Mol Sci
June 2024
Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Article Synopsis
- * Deficiencies in GCase activity lead to Gaucher Disease (GD) and can arise from mutations in the GCase-encoding gene, or rarely, from deficiencies in SapC or LIMP-2, which are responsible for targeting GCase to lysosomes.
- * The study reports new cases of LIMP-2 and SapC deficiencies, analyzing the effects on GCase activity and identifying distinct biochemical profiles and degradation pathways in different deficiency types compared to typical G
Prosaposin variants in sporadic, familial, and early-onset Parkinson's disease: a Taiwanese case-control study and meta-analysis.
Sci Rep
January 2024
Department of Neurology, Centre for Parkinson and Movement Disorder, National Taiwan University Hospital, Taipei, Taiwan.
Polymorphisms in the PSAP gene, which encodes prosaposin and is involved in the lysosomal function, yielded conflicting results regarding the association with Parkinson's disease (PD). Therefore, this study aims to investigate the role of PSAP in familial PD (FPD), early onset PD (EOPD) with age at onset before 50 years old, and sporadic PD (SPD) among Taiwanese population, and summarize relevant studies via meta-analysis. By sequencing exon 1 to 14 in 183 FPD and 219 EOPD, two novel exonic variants were found in EOPD, including p.
View Article and Find Full Text PDFProgress in leukodystrophies with zebrafish.
Dev Growth Differ
January 2024
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Inherited leukodystrophies are genetic disorders characterized by abnormal white matter in the central nervous system. Although individually rare, there are more than 400 distinct types of leukodystrophies with a cumulative incidence of 1 in 4500 live births. The pathophysiology of most leukodystrophies is poorly understood, there are treatments for only a few, and there is significant morbidity and mortality, suggesting a critical need for improvements in this field.
View Article and Find Full Text PDFMeta-analysis of the association of prosaposin polymorphisms rs4747203 and rs885828 with risk of Parkinson's disease.
Acta Neurol Belg
April 2024
Department of Geriatric Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, 650032, Yunnan, People's Republic of China.
Background: Previous research has established a connection between polymorphisms rs4747203 and rs885828 in the prosaposin (PSAP) gene and an increased risk of Parkinson's disease (PD). However, other studies have found no significant difference in risk compared to the general population.
Methods: To evaluate the current evidence linking rs4747203 and rs885828 to PD risk, we conducted a comprehensive search of PubMed, the Web of Science, Embase, and the Cochrane Library for relevant studies up until May 2023.
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