Results 51 to 60 of about 12,631 (179)
Niemann-Pick disease type B: HRCT assessment of pulmonary involvement
Jornal Brasileiro de PneumologiaObjective: To analyze HRCT findings in patients with Niemann-Pick disease (NPD) type B, in order to determine the frequency of HRCT patterns and their distribution in the lung parenchyma, as well as the most common clinical characteristics.
Heloisa Maria Pereira Freitas +7 more
doaj +1 more source
Cancer Medicine, Volume 15, Issue 7, July 2026.ABSTRACT Background Epithelial‐mesenchymal transition (EMT) is a cellular process involved in the invasion and metastasis of cancer cells. Deregulated cellular cholesterol is associated with treatment resistance and metastatic potential in cancer cells; however, the link between EMT and cholesterol is unclear.
Shanen Perumal +3 more
wiley +1 more source
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT Acid sphingomyelinase deficiency (ASMD), historically known as Niemann‐Pick disease, is a rare and potentially fatal lysosomal storage disease caused by pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM).
Maria Cristina Robin +10 more
wiley +1 more source
Unique molecular signature in mucolipidosis type IV microglia
Journal of Neuroinflammation, 2019 Background Lysosomal storage diseases (LSD) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to catabolic enzyme and transporter deficiencies.
Antony Cougnoux +12 more
doaj +1 more source
Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives
MedComm, Volume 7, Issue 7, July 2026.Schematic illustration of four emerging CRISPR–Cas delivery platforms defined by distinct design principles and structural features: virus‐mimicking nanosystems (e.g., VLPs), cell‐derived extracellular vesicles, cell‐penetrating peptides, and stimuli‐responsive scaffolds. These platforms enable spatiotemporally controlled delivery of RNPs, mRNA, or DNA
Meijia Yang +9 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2019 Lysosomal Storage Diseases (LSDs) are rare genetic diseases, the majority of which are caused by specific lysosomal enzyme deficiencies and all are characterized by malfunctioning lysosomes.
Evangelia Dimitriou +3 more
doaj +1 more source
Movement Disorders, Volume 41, Issue 7, Page 1740-1749, July 2026.Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen +27 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.We identified predictors of early onset and poor prognosis in childhood cerebellar atrophy. Our findings advocate for a shift towards early, targeted diagnostic strategies based on genetic and imaging profiles. ABSTRACT Objective To investigate the associations among clinical features, neuroimaging findings, and genetic data in children with hereditary
Luyao Jin +4 more
wiley +1 more source
European Journal of Neurology, Volume 33, Issue 7, July 2026.ABSTRACT Introduction Ataxia‐telangiectasia (AT) is characterized by progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased cancer susceptibility. No disease‐modifying treatment is available. This systematic review aimed to evaluate the efficacy and safety of pharmacological interventions for ataxia in pediatric AT. Method A
Fabiola Panvino +6 more
wiley +1 more source
Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients
Frontiers in Immunology, 2019 The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases ...
Catia S. Pereira +25 more
doaj +1 more source