Results 1 to 10 of about 2,335 (161)

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.
Antal Dezsőfi, Melinda Erdos
exaly   +5 more sources

Risperidone induces osteoporosis and neuropsychiatric treatment resistance via SMPD1-lysosome-mediated ferroptosis: dual rescue by active vitamin D analog ED-71 [PDF]

Journal of Advanced Research
Introduction: Risperidone (RIS), a second-generation antipsychotic for schizophrenia (SZ), is linked to osteoporosis and suboptimal symptom resolution. The shared cellular mechanisms underlying these cross-tissue toxicities (bone and hippocampus) remain ...
Minqi Li, Haipeng Si, Hongrui Liu
exaly   +4 more sources

Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina [PDF]

JIMD Reports
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 ...
Maria Cristina Robin, Consuelo Durand, Guillermo Guelbert, Norberto Guelbert, Mariana Leguizamon, Mariana Nuñez Miñana, Maria Alejandra Cédola, Maria Gabriela deLourdes Pacheco, Evangelina Gonzalez, Marisa Spallina, Sandra Quijano   +10 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

Podocyte-specific acid sphingomyelinase overexpression promotes gasdermin D dependent pyroptosis by impairing autophagic flux during obesity [PDF]

Frontiers in Physiology
Recent studies suggest that gasdermin D (GSDMD) pore formation contributes to inflammasome-mediated cytokine release and pyroptosis in podocytes under pathological conditions.
Dandan Huang, Yao Zou, Ethan Chan, Jason M. Kidd, Xiaoyuan Wu, Yang Zhang, Todd W.B. Gehr, Ningjun Li, Pin-Lan Li, Guangbi Li   +9 more
doaj   +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

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   +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

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

Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature [PDF]

Molecular and Cellular Pediatrics
Background Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B, is a rare autosomal recessive lysosomal storage disorder caused by SMPD1 mutations.
Mohamed El-mezayen, Abdelrahman M. Tawfik, Abdalla M. Hadhoud, Virginia M. Gerges, Mohamed H. Afify   +4 more
doaj   +2 more sources