Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome.
Congenit Anom (Kyoto)
December 2024
Department of Physiology, Keio University School of Medicine, Tokyo, Japan.
Sjögren-Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused by biallelic pathogenic variants in the ALDH3A2 gene that encodes the fatty aldehyde dehydrogenase, fatty aldehyde dehydrogenase (FALDH); FALDH catalyzes several metabolic reactions involved in fatty aldehyde oxidation. Only a few studies have been performed to determine the lipid profile of patients with SLS. In a previous postmortem study of the brain of a 65-year-old patient with SLS, lipidomic analysis revealed an accumulation of long-chain unsaturated ether lipid species in the white matter and gray matter.
View Article and Find Full Text PDFSjögren: unique surname, two men, four syndromes and one disease.
Arq Neuropsiquiatr
April 2024
Universidade Federal da Paraíba, Departamento de Medicina Interna, Serviço de Neurologia, João Pessoa PB, Brazil.
Article Synopsis
- Henrik described conditions such as Sjögren's syndrome (keratoconjunctivitis sicca) and Sjögren reticular dystrophy, which affects visual acuity.
- Torsten contributed to the understanding of several genetic and neurological disorders, including Spielmeyer-Sjögren disease, Marinesco-Sjögren syndrome, and Sjögren-Larsson syndrome.
Phenome-wide Mendelian randomization analysis reveals multiple health comorbidities of coeliac disease.
EBioMedicine
March 2024
Department of Medicine, Celiac Disease Center at Columbia University Medical Center, New York, NY, USA; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Department of Pediatrics, Orebro University Hospital, Orebro, Sweden. Electronic address:
Article Synopsis
- - The study explored the potential causal links between celiac disease (CeD) and various comorbidities using a phenome-wide Mendelian randomization analysis, examining genetic variants associated with CeD.
- - They found that genetic predisposition to CeD was linked to 68 clinical outcomes in the UK Biobank, with 38 being confirmed in a separate Finnish study, including a higher risk of autoimmune diseases and non-Hodgkin's lymphoma, while showing lower risk for prostate diseases.
- - The findings indicate a need for monitoring related health issues in CeD patients, as the genetic connections suggest shared underlying mechanisms with some of these diseases.
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Biochim Biophys Acta Mol Cell Biol Lipids
March 2024
United for Metabolic Diseases, the Netherlands; Department of Pediatric Neurology, Radboud University Medical Center, Amalia Children's Hospital, Donders Institute for Brain Cognition and Behaviour, Nijmegen, the Netherlands.
Article Synopsis
- Sjögren-Larsson syndrome (SLS) is a rare condition that affects the brain, eyes, and skin due to a lack of a specific enzyme involved in fatty aldehyde metabolism.
- Researchers conducted plasma lipidomics to identify potential biomarkers for SLS, discovering significant disturbances in ether lipid metabolism and finding two new lipid classes significantly elevated in affected individuals.
- The identified metabolites may serve as novel blood-based biomarkers for SLS and could enhance our understanding of the disorder's pathology.
Coexistence of Ichthyosis, Yellowish Keratoderma, and Neurologic Manifestations: Think About Sjogren-Larsson Syndrome.
Skinmed
December 2023
Department of Dermatology, Habib Thameur Hospital, Tunis, Tunisia.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!