Results 31 to 40 of about 2,188 (120)

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

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

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +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

Adenosine—A Regulator of Human Testicular Peritubular Cells

Andrology, EarlyView.
ABSTRACT Background Extracellular purines, in particular ATP and adenosine, are regulators of physiological and pathophysiological processes throughout the human body. Roles in the human testis are emerging and include actions on peritubular cells, which form the wall of seminiferous tubules.
Lina Scholz, Annika Liebich, Youli Stepanov, Jan B. Stöckl, Mirko Peitzsch, Michaela Schneider, Julia Schneider, Nicole Kreitmair, Matthias Trottmann, Frank‐Michael Köhn, Jovica Ninkovic, Thomas Fröhlich, Artur Mayerhofer   +12 more
wiley   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Characterization of the small molecule ARC39, a direct and specific inhibitor of acid sphingomyelinase in vitro[S]

Journal of Lipid Research, 2020
Inhibition of acid sphingomyelinase (ASM), a lysosomal enzyme that catalyzes the hydrolysis of sphingomyelin into ceramide and phosphorylcholine, may serve as an investigational tool or a therapeutic intervention to control many diseases.
Eyad Naser, Stephanie Kadow, Fabian Schumacher, Zainelabdeen H. Mohamed, Christian Kappe, Gabriele Hessler, Barbara Pollmeier, Burkhard Kleuser, Christoph Arenz, Katrin Anne Becker, Erich Gulbins, Alexander Carpinteiro   +11 more
doaj   +1 more source

Niemann-Pick Disease: Seven Questions about it

Вопросы современной педиатрии, 2023
Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes.
Nato D. Vashakmadze, Nataliya V. Zhurkova   +1 more
doaj   +1 more source

The proteomic and metabolomic signature of inherited chromosomally integrated HHV‐6 and its role in all‐cause dementia and mortality risk: The UK Biobank study

Alzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 12, Issue 3, July/September 2026.
Abstract OBJECTIVE To examine associations of inherited chromosomally integrated human herpesvirus 6 (iciHHV‐6) with incident dementia and mortality, characterize proteomic and metabolomic correlates of carrier status, and evaluate whether these biomarkers relate to dementia and mortality risk.
May A. Beydoun, Minkyo Song, Choa Yun, Nicole Noren Hooten, Jordan Weiss, Hind A. Beydoun, Michael R. Duggan, Keenan A. Walker, Lenore J. Launer, Michele K. Evans, Alan B. Zonderman   +10 more
wiley   +1 more source

Inhibition of acid sphingomyelinase disrupts LYNUS signaling and triggers autophagy

Journal of Lipid Research, 2018
Activation of the lysosomal ceramide-producing enzyme, acid sphingomyelinase (ASM), by various stresses is centrally involved in cell death and has been implicated in autophagy.
Matthew J. Justice, Irina Bronova, Kelly S. Schweitzer, Christophe Poirier, Janice S. Blum, Evgeny V. Berdyshev, Irina Petrache   +6 more
doaj   +1 more source