Results 41 to 50 of about 6,119 (148)

The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

Journal of Biochemical and Clinical Genetics, 2023
Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene.
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi   +6 more
doaj   +1 more source

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

Annals of Hepatology, 2019
Introduction and Objectives: Niemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4–0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1.
Magdalena Cerón-Rodríguez, Edgar Ricardo Vázquez-Martínez, Constanza García-Delgado, Alberto Ortega-Vázquez, Pedro Valencia-Mayoral, Lyuva Ramírez-Devars, Christian Arias-Villegas, Irma Eloísa Monroy-Muñoz, Marisol López, Alicia Cervantes, Marco Cerbón, Verónica Fabiola Morán-Barroso   +11 more
doaj   +1 more source

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

Orphanet Journal of Rare Diseases, 2019
Background Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Niemann-Pick ...
Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska, Anna Tylki-Szymańska   +5 more
doaj   +1 more source

Acid sphingomyelinase deficiency exacerbates LPS‐induced experimental periodontitis

Oral Diseases, 2020
AbstractBackgroundMutation of the gene for acid sphingomyelinase (ASMase) causes Niemann–Pick disease. However, the effect of ASMase deficiency on periodontal health is unknown. Periodontal disease is a disease resulting from infection and inflammation of periodontal tissue and alveolar bone that support the teeth.
Yanchun Li, Zhongyang Lu, Lixia Zhang, Keith L. Kirkwood, Maria F. Lopes‐Virella, Yan Huang   +5 more
openaire   +3 more sources

Acid Sphingomyelinase Deficiency Increases Susceptibility to Fatal Alphavirus Encephalomyelitis [PDF]

Journal of Virology, 2006
ABSTRACTSindbis virus (SV), an enveloped virus with a single-stranded, plus-sense RNA genome, is the prototype alphavirus in theTogaviridaefamily. In mice, SV infects neurons and can cause apoptosis of immature neurons. Sphingomyelin (SM) is the most prevalent cellular sphingolipid, is particularly abundant in the nervous systems of mammals, and is ...
Ching G, Ng, Diane E, Griffin
openaire   +2 more sources

Low SLC8A1 in Colorectal Cancer Dictates Radiotherapy Resistance Through Calcium‐Dependent ANXA2+sEVs Driving M2 Polarization of TAMs

Advanced Science, EarlyView.
SLC8A1 deficiency in colorectal cancer cells increases intracellular calcium signaling, promoting the secretion of ANXA2‐enriched small extracellular vesicles. These vesicles reprogram tumor‐associated macrophages towards an M2 phenotype, which in turn fosters a tumor microenvironment conducive to radioresistance and is associated with poor patient ...
Yimin Fang, Jinghan Zhu, Qian Xiao, Qichun Wei, Xiujing He, Ping Li, Kai Jiang, Yue Liu, Yeting Hu, Weiwei Yu, Chuansheng Guo, Sheng Chen, Jian Zhao, Siqi Dai, Jingsun Wei, Hang Yang, Tongtong Bu, Kefeng Ding, Haiyan Chen   +18 more
wiley   +1 more source

From Biological Mechanisms to Causal Inference: Quantitative Systems Pharmacology and Causal Frameworks in Drug Development

Clinical Pharmacology &Therapeutics, EarlyView.
Digital patients and in silico clinical trials offer new opportunities to advance pharmacological research, clinical development, and regulatory decision‐making by enabling the simulation of treatment effects prior to testing in patients. Among the most promising of these opportunities is the combined use of quantitative systems pharmacology (QSP) and ...
Thomas Klabunde, Ramon Hernandez, Piet H. van der Graaf, Tommaso Andreani   +3 more
wiley   +1 more source

Features of liver damage in Niemann — Pick disease type A, A/B and B (deficiency of acidic sphingomyelinase)

Лечащий Врач
Background. Acid sphingomyelinase deficiency (Niemann – Pick disease) leads to the intracellular accumulation of sphingomyelin within the mononuclear phagocyte system, including liver, spleen, lungs and bone marrow.
Goar B. Movsisyan, Tatyana A. Bokova
doaj   +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

Membrane lipid metabolism as a regulatory frontier in neural crest biology: Roles for sphingolipids, cholesterol, and lipid rafts

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are multipotent, migratory stem‐like cells essential for vertebrate development that contribute broadly to many tissues including the craniofacial skeleton, peripheral nervous system, and pigment‐producing cells. Their development progresses through phases of induction, specification, delamination, migration, and ...
Allison E. Mancini, Mallorie P. Jenne, Michael L. Piacentino   +2 more
wiley   +1 more source