Results 41 to 50 of about 2,188 (120)

Aspartame Increases the Risk of Pancreatic Ductal Adenocarcinoma

eFood, Volume 7, Issue 3, June 2026.
Aspartame (APM) is a widely used artificial sweetener associated with various health concerns, including potential links to diabetes, cardiovascular diseases, and an increased risk of cancer. A comprehensive approach incorporating data mining, machine learning, network toxicology, molecular docking, molecular dynamics simulations, and clinical sample ...
Jumin Xie, Wei Fang, Zean Song, Zhang Yu, Ying Zhu, Shaoping Liu   +5 more
wiley   +1 more source

Niemann-Pick type A disease with new mutation: a case report

Journal of Medical Case Reports, 2022
Background Niemann-Pick type A (NP-A) is a congenital, hereditary disease caused by a deficiency in acid sphingomyelinase, a lysosomal enzyme. This deficiency results in an accumulation of sphingomyelin in lysosomes, leading to cellular apoptosis and ...
Fatemeh Aghamahdi, Matineh Nirouei, Shahram Savad   +2 more
doaj   +1 more source

Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy

Molecular Genetics and Metabolism Reports, 2021
Acid sphingomyelinase deficiency (ASMD) is a rare metabolic disorder due to biallelic mutation in the SMPD1 gene. The defect leads to the accumulation of sphingomyelin within the cells of the reticulo-endothelial system, particularly in the spleen, liver,
Annalisa Sechi, Alessandro Vit, Claudio Avellini, Andrea Dardis, Andrea Pellegrin, Maurizio Scarpa, Bruno Bembi   +6 more
doaj   +1 more source

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ERT) with olipudase alfa (Xenpozyme) is the first disease‐specific treatment indicated for noncentral ...
Melissa P. Wasserstein, Carla E. Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Beth L. Thurberg, Jesus Villarrubia, Nicole M. Armstrong, Shashi Bhushan, Yong Kim, Monica Kumar   +20 more
wiley   +1 more source

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

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   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 636-642, May 2026.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

靶向SMPD1基因的RNA干扰对人成纤维细胞凋亡的保护作用

Zhongshan Daxue xuebao. Yixue kexue ban, 2007
【目的】以人包皮成纤维细胞（HFF）为模型,通过系统比较针对不同靶点的小干扰RNA（siRNA）对酸性鞘磷脂酶1（SMPD1）基因的沉默效果,筛选获得最有效的小干扰RNA序列,同时观察沉默SMPD1对细胞凋亡的保护作用。【方法】设计合成三对靶向SMPD1基因的小干扰RNA作为实验组,同时设立阴性对照组和脂质体组（lipofectamine 2000）,瞬时转染原代培养的HFF细胞,采用荧光定量RT-PCR法及Western blot测定SMPD1表达抑制情况,并用化疗药物丝裂霉素诱导细胞凋亡 ...
高军, 周灿权, 张仁礼, 马芸
doaj  

Involvement of Huanglian Jiedu Decoction on Microglia with Abnormal Sphingolipid Metabolism in Alzheimer’s Disease

Drug Design, Development and Therapy, 2022
Yi-Yu Qi,1,* Xia Heng,1,* Zeng-Ying Yao,2 Shu-Yue Qu,1 Ping-Yuan Ge,1 Xin Zhao,1 Sai-jia Ni,2 Rui Guo,3 Nian-Yun Yang,1 Qi-Chun Zhang,2 Hua-Xu Zhu1 1Department of Traditional Chinese Medicine Processing and Preparation, Nanjing University of ...
Qi YY, Heng X, Yao ZY, Qu SY, Ge PY, Zhao X, Ni S, Guo R, Yang NY, Zhang QC, Zhu HX   +10 more
doaj  

Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A [version 1; referees: 2 approved]

F1000Research, 2015
A 14-month-old child, recently diagnosed with Niemann-Pick disease type A, presented for a laparoscopic placement of a gastrostomy tube under general anesthesia.
Priti G. Dalal, Melissa Coleman, Meagan Horst, Dorothy Rocourt, Roger L. Ladda, Piotr K. Janicki   +5 more
doaj   +1 more source

Analysis of Genetic Variation of rs1542705 Marker in SMPD1 Gene Region as an Informative Marker for Molecular Diagnosis of Niemann-Pick Disease in Isfahan Population [PDF]

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2016
Background: Niemann-Pick disease (NPD) refers to a group of lysosomal storage diseases that causes abnormal metabolism of lipids. One of the genes that play a role in the pathogenesis of this disease is SMPD1.
Nasim Ebrahimi, Sadegh Vallian Borujeni
doaj