Results 41 to 50 of about 2,335 (161)

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

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

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, Volume 46, Issue 11, Page 1703-1710, October 2026.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 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

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

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

Movement Disorders, Volume 41, Issue 9, Page 2349-2356, September 2026.
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

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

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

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