Results 161 to 170 of about 2,680,532 (210)

Acid sphingomyelinase deficiency in France: a retrospective survival study. [PDF]

Orphanet J Rare Dis
Mauhin W, Guffon N, Vanier MT, Froissart R, Cano A, Douillard C, Lavigne C, Héron B, Belmatoug N, Uzunhan Y, Lacombe D, Levade T, Duvivier A, Pulikottil-Jacob R, Laredo F, Pichard S, Lidove O, ASSUR Study Group.   +17 more
europepmc   +1 more source

Acid sphingomyelinase activity suggests a new antipsychotic pharmaco-treatment strategy for schizophrenia. [PDF]

Mol Psychiatry
Chestnykh D, Mühle C, Schumacher F, Kalinichenko LS, Löber S, Gmeiner P, Alzheimer C, von Hörsten S, Kleuser B, Uebe S, Ekici AB, Gulbins E, Kornhuber J, Jin HK, Bae JS, Lourdusamy A, Müller CP.   +16 more
europepmc   +1 more source

Exploring Exhaled Breath Analysis in Adults With Chronic Visceral Acid Sphingomyelinase Deficiency to Identify Potential Biomarkers of Pulmonary Involvement. [PDF]

J Inherit Metab Dis
Eskes ECB, Schomakers BV, van Weeghel M, Terheggen-Lagro SWJ, Meijboom LJ, Hollak CEM, Brinkman P, Sjouke B.   +7 more
europepmc   +1 more source

Imipramine, an Acid Sphingomyelinase Inhibitor, Promotes Newborn Neuron Survival in the Hippocampus After Seizure. [PDF]

Cells
Lee SH, Yang HW, Kang BS, Park MK, Kim DY, Song HK, Choi HC, Lee M, Choi BY, Son DS, Suh SW.   +10 more
europepmc   +1 more source

Acid Sphingomyelinase and Ceramide Signaling Pathway Mediates Nicotine-Induced NLRP3 Inflammasome Activation and Podocyte Injury. [PDF]

Biomedicines
Rahman MA, Datta S, Lakkakula H, Koka S, Boini KM.   +4 more
europepmc   +1 more source

Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study. [PDF]

Mol Genet Metab Rep
Sinha DB, Simpson WL, Ting A, Bier L, Freeman M, Mason LM, Diaz GA, Ganesh J.   +7 more
europepmc   +1 more source

Acid sphingomyelinase deficiency with homozygous p.Arg610del genotype in an elderly patient: a rare case report. [PDF]

J Bras Pneumol
Bridi GDP, Kairalla RA, Sawamura MVY, Baldi BG.   +3 more
europepmc   +1 more source

Acid Sphingomyelinase Deficiency Ameliorates Farber Disease [PDF]

International Journal of Molecular Sciences, 2019
Farber disease is a rare lysosomal storage disorder resulting from acid ceramidase deficiency and subsequent ceramide accumulation. No treatments for Farber disease are clinically available, and affected patients have a severely shortened lifespan.
Stephanie Kadow, Fabian Schumacher, Burkhard Kleuser   +2 more
exaly   +8 more sources

Inhibition of acid sphingomyelinase increases regulatory T cells in humans.

Brain Communications, 2021
Genetic deficiency for acid sphingomyelinase or its pharmacological inhibition has been shown to increase Foxp3\(^+\) regulatory T-cell frequencies among CD4\(^+\) T cells in mice.
Jürgen Schneider-Schaulies, Bernard Vanhove, Fabian Schumacher   +2 more
exaly   +2 more sources