Results 71 to 80 of about 5,268,641 (220)

Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease

Journal of Lipid Research, 1967
This paper describes the purification and some of the properties of an enzyme from human spleen that catalyzes the hydrolysis of sphingomyelin with the formation of ceramide and phosphoryl choline.
Peter B. Schneider, Eugene P. Kennedy
doaj   +1 more source

Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant

Journal of Rare Diseases
Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with a relentless
Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl   +6 more
doaj   +1 more source

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

Frontiers in Physiology, 2017
Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct ...
Sandra Torres, Sandra Torres, Elisa Balboa, Silvana Zanlungo, Carlos Enrich, Carmen Garcia-Ruiz, Carmen Garcia-Ruiz, Carmen Garcia-Ruiz, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa   +10 more
doaj   +1 more source

Genetic Diversity and Structure Analysis of Wild Oysters (Crassostrea virginica) Within and Between River Systems Reveals Spatial Genetic Structure and Salinity‐Adaptive Variation Across the Canadian Maritimes

Evolutionary Applications, Volume 19, Issue 10, October 2026.
ABSTRACT In the Canadian Maritimes, the eastern oyster (Crassostrea virginica) industry has been shaped by population‐scale events, including ~90% reductions of natural beds from Malpeque disease. For many years, Maritime oyster populations were considered genetically homogenous due to large‐scale transplants to rehabilitate depleted beds; however ...
Stephanie Hall, Denise Méthé, Royce Steeves, Mark LaFlamme, Curtis Dinn, Rémi Sonier, Jeff C. Clements   +6 more
wiley   +1 more source

Malaria mosquito antimicrobial defence requires immunity and detoxification gene regulation by Lola

Insect Molecular Biology, Volume 35, Issue 5, Page 576-593, October 2026.
Malaria mosquito antimicrobial defence requires upregulation of lola. Attenuation of lola in the midgut of Anopheles albimanus mosquitoes inhibits the upregulation of immunity genes induced by challenge. Putative target genes of the Lola transcription factor were revealed by lola attenuation, including Cecropin‐C, Draper, PPAF2, Clip‐domain serine ...
Heidi Espadas‐Álvarez, Verónica Valverde‐Garduño   +1 more
wiley   +1 more source

Cyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells[S]

Journal of Lipid Research, 2019
In specialized cell types, lysosome-related organelles support regulated secretory pathways, whereas in nonspecialized cells, lysosomes can undergo fusion with the plasma membrane in response to a transient rise in cytosolic calcium. Recent evidence also
Fabrizio Vacca, Stefania Vossio, Vincent Mercier, Dimitri Moreau, Shem Johnson, Cameron C. Scott, Jonathan Paz Montoya, Marc Moniatte, Jean Gruenberg   +8 more
doaj   +1 more source

Macular Cherry Red Spots in Niemann-Pick disease

, 1968
Macular cherry red spots in Niemann-Pick disease. Same patient as R2A2b. Anatomy: Retina. Pathology: Retinal ganglion cell accumulation of lipid. Disease/Diagnosis: Niemann-Pick disease.
William F. Hoyt, MD
core  

A case of Niemann – Pick disease type C

Неврология, нейропсихиатрия, психосоматика, 2013
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova   +2 more
doaj   +1 more source

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate

Molecular Genetics and Metabolism Reports, 2015
Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann–Pick disease types A and B.
Wei-Lien Chuang, Joshua Pacheco, Samantha Cooper, Jonathan S. Kingsbury, John Hinds, Pavlina Wolf, Petra Oliva, Joan Keutzer, Gerald F. Cox, Kate Zhang   +9 more
doaj   +1 more source

Response to two comments on “EHA Guidelines on management of chronic lymphocytic leukemia and Richter transformation” by S. Molica and A. Tedeschi: Beyond the binary choice

HemaSphere, Volume 10, Issue 10, October 2026.
Barbara Eichhorst, Paolo Ghia, Francesc Bosch, Ruth Clifford, Michael Gregor, Romain Guieze, Arnon P. Kater, Carsten U. Niemann, Sarka Pospisilova, Tadeusz Robak, Anna Schuh, Kostas Stamatopoulos, Tamar Tadmor, Nick York   +13 more
wiley   +1 more source