Results 31 to 40 of about 2,335 (161)

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

Acid Sphingomyelinase Promotes Endothelial Stress Response in Systemic Inflammation and Sepsis

Molecular Medicine, 2016
The pathophysiology of sepsis involves activation of acid sphingomyelinase (SMPD1) with subsequent generation of the bioactive mediator ceramide. We herein evaluate the hypothesis that the enzyme exerts biological effects in endothelial stress response ...
Ha-Yeun Chung, Daniel C Hupe, Gordon P Otto, Marcel Sprenger, Alexander C Bunck, Michael J Dorer, Clemens L Bockmeyer, Hans-Peter Deigner, Markus H Gräler, Ralf A Claus   +9 more
doaj   +1 more source

Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients

Pakistan Journal of Medical Sciences, 2020
Objective: Genetic variation analysis of rare autosomal recessive Niemann-Pick disease (NPD) Pakistani patients. Methods: We sequenced the SMPD1 gene including its all coding and flanking regions in seven unrelated sporadic patients suffering from Niemann-Pick disease through targeted exome sequencing.
Huma Arshad Cheema, Iqra Ghulam Rasool, Muhammad Nadeem Anjum, Muhammad Yasir Zahoor   +3 more
openaire   +3 more sources

Homozygous Smpd1 deficiency aggravates brain ischemia/ reperfusion injury by mechanisms involving polymorphonuclear neutrophils, whereas heterozygous Smpd1 deficiency protects against mild focal cerebral ischemia [PDF]

Basic Research in Cardiology, 2020
AbstractBy cleaving sphingomyelin into ceramide, which is an essential component of plasma membrane microdomains, acid sphingomyelinase (Asm) pivotally controls cell signaling. To define how the activation of the Asm/ceramide pathway, which occurs within seconds to minutes upon stress stimuli, influences brain ischemia/reperfusion (I/R) injury, we ...
Hagemann, Nina, Mohamud Yusuf, Ayan, Martiny, Carlotta, Zhang, Xiaoni, Kleinschnitz, Christoph, Gunzer, Matthias, Kolesnick, Richard, Gulbins, Erich, Hermann, Dirk M.   +8 more
openaire   +3 more sources

Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report

Journal of Medical Case Reports, 2018
Background Niemann–Pick disease is caused by reduced level of the lysosomal enzyme acid sphingomyelinase. Children can survive between 2 and 12 years based on the disease type. Two main types are well known: type A and B.
Abedelmajeed Nasereddin, Suheir Ereqat
doaj   +1 more source

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A

American Journal of Case Reports, 2022
BACKGROUND Niemann-Pick disease (NPD) type A is an autosomal recessive lipid storage disorder caused by acid sphingomyelinase deficiency due to a mutation in the SMPD1 gene. Type A is the most severe phenotype of NPD, with early onset in infancy and unfavorable outcome in early childhood.
Kavčič, Alja, Homan, Matjaž, Živanović, Milanka, Debeljak, Maruša, Butenko, Tita, Torkar, Ana Drole, Tanšek, Mojca Žerjav, Bertok, Sara, Battelino, Tadej, Groselj, Urh   +9 more
openaire   +2 more sources

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease [PDF]

Neurology, 2013
To study the possible association of founder mutations in the lysosomal storage disorder genes HEXA, SMPD1, and MCOLN1 (causing Tay-Sachs, Niemann-Pick A, and mucolipidosis type IV diseases, respectively) with Parkinson disease (PD).Two PD patient cohorts of Ashkenazi Jewish (AJ) ancestry, that included a total of 938 patients, were studied: a cohort ...
Ziv, Gan-Or, Laurie J, Ozelius, Anat, Bar-Shira, Rachel, Saunders-Pullman, Anat, Mirelman, Ruth, Kornreich, Mali, Gana-Weisz, Deborah, Raymond, Liron, Rozenkrantz, Andres, Deik, Tanya, Gurevich, Susan J, Gross, Nicole, Schreiber-Agus, Nir, Giladi, Susan B, Bressman, Avi, Orr-Urtreger   +15 more
openaire   +2 more sources

Ceramide-induced cleavage of GPR64 intracellular domain drives Ewing sarcoma

Cell Reports
Summary: Ewing sarcoma is a cancer of bone and soft tissue in children and young adults primarily driven by the EWS-FLI1 fusion oncoprotein, which has been undruggable.
Kruthi Suvarna, Panneerselvam Jayabal, Xiuye Ma, Hu Wang, Yidong Chen, Susan T. Weintraub, Xianlin Han, Peter J. Houghton, Yuzuru Shiio   +8 more
doaj   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

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.
Yongang Li, GuiKai Ji, Mengjia Lian, Xuan Liu, Ying Xu, Yaxing Gui   +5 more
doaj   +1 more source