Results 11 to 20 of about 10,325 (203)

Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective [PDF]

International Journal of Molecular Sciences, 2021
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease caused by deficient activity of acid sphingomyelinase (ASM) enzyme, leading to the accumulation of varying degrees of sphingomyelin. Lipid storage leads to foam cell infiltration in tissues, and clinical features including hepatosplenomegaly, pulmonary insufficiency and in some ...
Carolina Pinto, Diana Sousa, Vladimir Ghilas, Andrea Dardis, Maurizio Scarpa, Maria Macedo   +5 more
openaire   +6 more sources

Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency [PDF]

Disease Models & Mechanisms, 2023
ABSTRACT Heterozygous variants in GBA1, encoding glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). Moreover, sporadic PD patients also have a substantial reduction of GCase activity. Genetic variants of SMPD1 are also overrepresented in PD cohorts, whereas a reduction of its encoded enzyme (
Marcus Keatinge, Matthew E. Gegg, Lisa Watson, Heather Mortiboys, Nan Li, Mark Dunning, Deepak Ailani, Hai Bui, Astrid van Rens, Dirk J. Lefeber, Anthony H. V. Schapira, Ryan B. MacDonald, Oliver Bandmann   +12 more
doaj   +8 more sources

Prevalence of Cancer in Acid Sphingomyelinase Deficiency [PDF]

Journal of Clinical Medicine, 2021
Acid sphingomyelinase deficiency (ASMD) is an inherited lysosomal disease characterised by a diffuse accumulation of sphingomyelin that cannot be catabolised into ceramide and phosphocholine. We studied the incidence of cancer in ASMD patients. We retrospectively reviewed the medical records of the adult chronic visceral ASMD patients in our cohort ...
Mauhin, Wladimir, Levade, Thierry, Vanier, Marie, Froissart, Roseline, Lidove, Olivier   +4 more
openaire   +5 more sources

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. We have recently reported a novel acid ceramidase deficiency model that mirrors the human disease closely.
Beckmann, Nadine, Becker, Katrin Anne, Kadow, Stephanie, Schumacher, Fabian, Kramer, Melanie, Kühn, Claudine, Schulz-Schaeffer, Walter J., Edwards, Michael J., Kleuser, Burkhard, Gulbins, Erich, Carpinteiro, Alexander   +10 more
openaire   +6 more sources

Acid sphingomyelinase deficiency enhances myelin repair after acute and chronic demyelination. [PDF]

PLoS ONE, 2017
The cuprizone animal model, also known as the toxic demyelination model, is a well-reproducible model of demyelination- and remyelination in mice, and has been useful in studying important aspect of human demyelinating diseases, including multiple ...
Marwan Chami, Ramona Halmer, Laura Schnoeder, Katrin Anne Becker, Carola Meier, Klaus Fassbender, Erich Gulbins, Silke Walter   +7 more
doaj   +5 more sources

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis. [PDF]

J Clin Med
Background: Gaucher disease is a lysosomal storage disorder caused by functional glucocerebrosidase enzyme deficiency. Hepatosplenomegaly and hematological complications are found in both Gaucher disease and Acid Sphingomyelinase Deficiency, which is caused by acid sphingomyelinase dysfunction.
Giacomarra M, Colomba P, Francofonte D, Zora M, Caocci G, Diomede D, Giuffrida G, Fiori L, Montanari C, Sapuppo A, Scortechini AR, Vitturi N, Duro G, Zizzo C.   +13 more
europepmc   +5 more sources

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France [PDF]

Journal of Clinical Medicine, 2022
Acid sphingomyelinase deficiency (ASMD) is a rare inherited lipid storage disorder caused by a deficiency in lysosomal enzyme acid sphingomyelinase which results in the accumulation of sphingomyelin, predominantly within cells of the reticuloendothelial system located in numerous organs, such as the liver, spleen, lungs, and central nervous system ...
Wladimir Mauhin, Raphaël Borie, Florence Dalbies, Claire Douillard, Nathalie Guffon, Christian Lavigne, Olivier Lidove, Anaïs Brassier   +7 more
openaire   +4 more sources

Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience. [PDF]

J Inherit Metab Dis, 2023
AbstractAcid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder (LSD) caused by reduced activity of the acid sphingomyelinase (ASM) enzyme, which leads to progressive storage of sphingomyelin and related lipids in the body. ASMD is caused by biallelic variants in the SMPD1 gene, which encodes for the ASM enzyme.
Hickey RE, Baker J.
europepmc   +5 more sources

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

Molecular Genetics and Metabolism, 2019
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, results from mutations in SMPD1, the gene encoding acid sphingomyelinase (ASM). As a result, sphingomyelin accumulates in multiple organs including spleen, liver, lung, bone marrow, lymph nodes, and in the most severe form, in the CNS and peripheral nerves.
Melissa Wasserstein, Carlo Dionisi-Vici, Roberto Giugliani, Wuh-Liang Hwu, Olivier Lidove, Zoltan Lukacs, Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman, Margaret McGovern   +9 more
openaire   +4 more sources

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

Molecular Genetics and Metabolism, 2020
Acid Sphingomyelinase Deficiency (ASMD), or Niemann-Pick type A/B disease, is a rare lipid storage disorder leading to accumulation of sphingomyelin and its precursors primarily in macrophages. The disease has a broad phenotypic spectrum ranging from a fatal infantile form with severe neurological involvement (the infantile neurovisceral type) to a ...
Eskes, E.C.B., Sjouke, B., Vaz, F.M., Goorden, S.M.I., Kuilenburg, A.B.P. van, Aerts, J.M.F.G., Hollak, C.E.M.   +6 more
openaire   +6 more sources