Results 1 to 10 of about 2,188 (120)

AXL Promotes Ischemic Myelin Repair Through Alleviating Myelin Debris Deposition and Lipid Droplets Accumulation [PDF]

Advanced Science
Ischemic white matter injury leads to long‐term neurological deficits but currently lacks effective therapies. Although AXL has been implicated in debris clearance and inflammatory regulation, its role in post‐stroke myelin repair remains unclear.
Junqiu Jia, Yonghui Gan, Jia Li, Lilin Li, Hailan Meng, Min Sun, Lei Ye, Rui Mao, Xiang Cao, Shengnan Xia, Xinyu Bao, Renyuan Liu, Meijuan Zhang, Yun Xu   +13 more
doaj   +3 more sources

Ceramide-Induced Lysosomal Biogenesis and Exocytosis in Early-Onset Preeclampsia Promotes Exosomal Release of SMPD1 Causing Endothelial Dysfunction

Frontiers in Cell and Developmental Biology, 2021
Aberrant ceramide build-up in preeclampsia, a serious disorder of pregnancy, causes exuberant autophagy-mediated trophoblast cell death. The significance of ceramide accumulation for lysosomal biogenesis in preeclampsia is unknown.
Isabella Caniggia, Julien Sallais, Leonardo Ermini   +2 more
exaly   +3 more sources

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

Frontiers in Genetics, 2023
Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease caused by biallelic pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene.
, Melinda Erdos, Molnár Maria Judit
exaly   +3 more sources

Endogenous Ceramide 24:1 Constrains Th17-Driven Neutrophilic Inflammation by Antagonizing EP2 Signaling. [PDF]

Adv Sci (Weinh)
Cer24:1 levels are reduced in neutrophilic asthma and inversely correlate with disease severity and airway neutrophilia. Restoring Cer24:1 suppresses pathogenic Th17 differentiation by engaging EP2 on CD4+ T cells, thereby dampening the JAK2–STAT3–RORγt axis and reducing IL‐17 production.
Liu H, Aili A, Kuang Z, Cao L, Li Z, Shang Y, Ge Y, Hu T, Sun Y, Zhao W, Jin R, Chang C, Chang C.   +12 more
europepmc   +2 more sources

SMPD1 as a Potential Prognostic Biomarker in Glioma Is Associated With an Immunosuppressive Microenvironment. [PDF]

CNS Neurosci Ther
SMPD1 expression varies across different glioma subtypes and clinical features and is associated with poor prognosis. High SMPD1 levels are linked to an immunosuppressive tumor microenvironment, characterized by suppressed M1 macrophage polarization and enhanced M2‐like signatures.
Xu Y, Liu X, Xu B, Li Q, Zhang L, Li C, Zhao Z.   +6 more
europepmc   +2 more sources

Upregulation of sphingomyelin and ABCA8 in response to TDP-43 pathology in amyotrophic lateral sclerosis brain. [PDF]

Brain Pathol
Increases in sphingomyelin in response to TDP‐43 pathology in the disease‐affected motor cortex of amyotrophic lateral sclerosis (ALS) brain. Abstract Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease characterized by the degeneration of motor neurons and the presence of TAR DNA‐binding protein 43 (TDP‐43 ...
Isik FI, Pickford R, Dzamko N, Rye KA, Kim WS.   +4 more
europepmc   +2 more sources

Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center [PDF]

Molecular Genetics and Metabolism Reports
Objectives: Acid sphingomyelinase deficiency (ASMD) is an inherited autosomal recessive disease caused by pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM).
Rabab Farhan, Mays Al-Tai, Ikhlas Ali Ahmed, Adel Kareem, Saja Baheer, Bassam Musa Sadik, Matheel Mohamed Jafar, Marwa Sabah Alothman   +7 more
doaj   +2 more sources

Reduced native T1 on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B [PDF]

American Heart Journal Plus
Background: Niemann-Pick disease type B (NPD-B) is a rare lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene, leading to deficient acid sphingomyelinase activity and lipid accumulation in various organs.
Betim Redzepi, Panagiotis Antiochos, Christel Tran, Joana Vieira Barbosa, Ambra Masi, Meng Zhang, Revi Adheriyani, Belinda Campos-Xavier, Juerg Schwitter   +8 more
doaj   +2 more sources

Effect of PLA2G6 and SMPD1 Variants on the Lipid Metabolism in the Cerebrospinal Fluid of Patients with Parkinson's Disease: A Non-targeted Lipidomics Study

Neurology and Therapy, 2023
Introduction Sleep patterns are more frequently interrupted in patients with Parkinson's disease (PD), and it is still unclear whether genetic factors are involved in PD-related sleep disorders.
Yaxing Gui
exaly   +2 more sources

Genetic modulation of rare earth nanoparticle biotransformation shapes biological outcomes [PDF]

Nature Communications
The biotransformation of nanoparticles plays a crucial role in determining their biological fate and responses. Although a few engineering strategies (e.g., surface functionalization and shape control) have been employed to regulate the fate of ...
Mingming Tian, Di Wu, Xiao Gou, Ruibin Li, Xiaowei Zhang   +4 more
doaj   +2 more sources