Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency [PDF]
Genetics in Medicine, 2017 Disclaimer:This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence
McGovern, Margaret M. +9 more
openaire +3 more sources
Intestinal Acid Sphingomyelinase Protects From Severe Pathogen-Driven Colitis [PDF]
, 2019 Inflammatory diseases of the gastrointestinal tract are emerging as a global problem with increased evidence and prevalence in numerous countries. A dysregulated sphingolipid metabolism occurs in patients with ulcerative colitis and is discussed to ...
Becker, Katrin A. +9 more
core +1 more source
Acid Sphingomyelinase Regulates the Localization and Trafficking of Palmitoylated Proteins [PDF]
, 2019 In human, loss of Acid Sphingomeylinase (ASM/SMPD1) causes Niemann-Pick Disease, type A. ASM hydrolyzes sphingomyelins to produce ceramides but protein targets of ASM remain largely unclear. ...
Kim, Yongsoon +7 more
core +2 more sources
Sphingolipids as emerging mediators in retina degeneration [PDF]
, 2019 The sphingolipids ceramide (Cer), sphingosine-1-phosphate (S1P), sphingosine (Sph), and ceramide-1-phosphate (C1P) are key signaling molecules that regulate major cellular functions.
Prado Spalm, Facundo Heber +3 more
core +1 more source
Acid Sphingomyelinase-deficient Macrophages Have Defective Cholesterol Trafficking and Efflux [PDF]
Journal of Biological Chemistry, 2001 Cholesterol efflux from macrophage foam cells, a key step in reverse cholesterol transport, requires trafficking of cholesterol from intracellular sites to the plasma membrane. Sphingomyelin is a cholesterol-binding molecule that transiently exists with cholesterol in endosomes and lysosomes but is rapidly hydrolyzed by lysosomal sphingomyelinase (L ...
A R, Leventhal +3 more
openaire +2 more sources
Reproductive Pathology and Sperm Physiology in Acid Sphingomyelinase-Deficient Mice [PDF]
The American Journal of Pathology, 2002 Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorders resulting from the deficient activity of acid sphingomyelinase (ASM). In this manuscript we report the pathobiology of male gonadal tissue and sperm in a knockout mouse model of NPD and demonstrate the importance of ASM for normal sperm maturation and function.
Avigdor, Butler +5 more
openaire +2 more sources
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 +1 more
doaj +1 more source
Heterotrimeric G-protein subunit Gαi2 contributes to agonist-sensitive apoptosis and degranulation in murine platelets [PDF]
, 2018 Gαi2, a heterotrimeric G-protein subunit, regulates various cell functions including ion channel activity, cell differentiation, proliferation and apoptosis.
Birnbaumer, Lutz +12 more
core +1 more source
Blunted apoptosis of erythrocytes in mice deficient in the heterotrimeric G-protein subunit Gαi2 [PDF]
, 2016 Putative functions of the heterotrimeric G-protein subunit Gαi2-dependent signaling include ion channel regulation, cell differentiation, proliferation and apoptosis.
Birnbaumer, Lutz +18 more
core +2 more sources
Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease
Nature Communications, 2016 Genetic alterations in the protein acid sphingomyelinase (ASM) lead to ASM deficiency and have been associated with Niemann–Pick disease. Here, the authors report the crystal structures of ASM alone and bound to its product, and discuss the catalytic ...
Yan-Feng Zhou +5 more
doaj +1 more source