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Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice.
Mol Ther Methods Clin Dev
December 2024
Research Institute, Children's Hospital of Orange County, Orange, CA, USA.
Mucopolysaccharidosis type I (MPS I) is a metabolic disorder characterized by a deficiency in α-l-iduronidase (IDUA), leading to impaired glycosaminoglycan degradation. Current approved treatments seek to restore IDUA levels via enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). The effectiveness of these treatment strategies in preventing neurodegeneration is limited due to the inability of ERT to penetrate the blood-brain barrier (BBB) and HSCT's limited CNS reconstitution of IDUA levels.
View Article and Find Full Text PDFLeveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.
PLoS Genet
January 2025
Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.
Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that are also associated with rare Mendelian disorders. The use of cancer mutation data to aid in the interpretation of germline missense variants, regardless of whether the gene is associated with a hereditary cancer predisposition syndrome or a non-cancer-related developmental disorder, has not been systematically assessed.
View Article and Find Full Text PDFCerebral amyloid angiopathy: one single entity?
Curr Opin Neurol
February 2025
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Purpose Of Review: Cerebral amyloid angiopathy (CAA) is a common brain disorder among the elderly and individuals with Alzheimer's disease, where accumulation of amyloid-ß can lead to intracerebral hemorrhage and dementia. This review discusses recent developments in understanding the pathophysiology and phenotypes of CAA.
Recent Findings: CAA has a long preclinical phase starting decades before symptoms emerge.
Multigene Panel Testing Revealed Novel Variants in Hereditary Spherocytosis Patients in Türkiye.
Turk J Haematol
January 2025
Marmara University Faculty of Medicine, Department of Medical Genetics, İstanbul, Türkiye.
Objective: This study aims to determine the genotypic characteristics of Hereditary Spherocytosis (HS) patients in Turkiye and to examine the correlation between genotype and phenotype.
Materials And Methods: Herein we had 18 patients who were admitted to pediatric hematology outpatient clinic with hemolytic anemia, jaundice, cholelithiasis, and splenomegaly. According to the Eber's classification, the patients' clinical presentations were categorized as mild, moderate, and severe.
Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.
Eur J Neurol
January 2025
Brain and Mind Centre, University of Sydney, Camperdown, New South Wales, Australia.
Background And Purpose: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease characterized by abnormal bile acid synthesis. It often presents with systemic and neurological manifestations; however, atypical presentations can lead to significant diagnostic challenges. This case report highlights the diagnostic complexities and management considerations in a patient with an uncommon presentation of CTX.
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