ASM variants in the spotlight: A structure-based atlas for unraveling pathogenic mechanisms in lysosomal acid sphingomyelinase.
Scrima S, Lambrughi M, Tiberti M, Fadda E, Papaleo E.

Acid sphingomyelinase as a pathological and therapeutic target in neurological disorders: focus on Alzheimer's disease.
Choi BJ, Park MH, Jin HK, Bae JS., Free PMC Article

Effect of acid sphingomyelinase deficiency in type A Niemann-Pick disease on the transport of therapeutic nanocarriers across the blood-brain barrier.
Loeck M, Placci M, Muro S.

Acid sphingomyelinase expression is associated with survival in resectable pancreatic ductal adenocarcinoma.
Wilson GC, Patel SH, Wang J, Xu K, Turner KM, Becker KA, Carpinteiro A, Szabo I, Ahmad SA, Gulbins E., Free PMC Article

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.
Scarpa M, Barbato A, Bisconti A, Burlina A, Concolino D, Deodato F, Di Rocco M, Dionisi-Vici C, Donati MA, Fecarotta S, Fiumara A, Galeone C, Giona F, Giuffrida G, Manna R, Mariani P, Pession A, Scopinaro A, Spada M, Spandonaro F, Trifirò G, Carubbi F, Cappellini MD.

SMPD1 gene variants in patients with β-Thalassemia major.
Dursun FE, Özen F., Free PMC Article

SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R, Qin Z, Huang L, Luo H, Peng H, Zhou X, Zhao Z, Liu M, Yang P, Shi T., Free PMC Article

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Deshpande D, Gupta SK, Sarma AS, Ranganath P, Jain S JMN, Sheth J, Mistri M, Gupta N, Kabra M, Phadke SR, Girisha KM, Dua Puri R, Aggarwal S, Datar C, Mandal K, Tilak P, Muranjan M, Bijarnia-Mahay S, Rama Devi A R, Tayade NB, Ranjan A, Dalal AB.

Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.
Hu J, Maegawa GHB, Zhan X, Gao X, Wang Y, Xu F, Qiu W, Han L, Gu X, Zhang H.

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.
Abtahi R, Karimzadeh P, Rezayi A, Salehpour S, Akbarzadeh D, Tonekaboni SH, Emameh RZ, Houshmand M.

Activation of Sphingomyelinase-Ceramide-Pathway in COVID-19 Purposes Its Inhibition for Therapeutic Strategies.
Abusukhun M, Winkler MS, Pöhlmann S, Moerer O, Meissner K, Tampe B, Hofmann-Winkler H, Bauer M, Gräler MH, Claus RA., Free PMC Article

Acid Sphingomyelinase and Acid β-Glucosidase 1 Exert Opposite Effects on Interleukin-1β-Induced Interleukin 6 Production in Rheumatoid Arthritis Fibroblast-Like Synoviocytes.
Zhao M, Yang M, Li X, Hou L, Liu X, Xiao W.

Acid Sphingomyelinase, a Lysosomal and Secretory Phospholipase C, Is Key for Cellular Phospholipid Catabolism.
Breiden B, Sandhoff K., Free PMC Article

Inhibition of acid sphingomyelinase by ambroxol prevents SARS-CoV-2 entry into epithelial cells.
Carpinteiro A, Gripp B, Hoffmann M, Pöhlmann S, Hoertel N, Edwards MJ, Kamler M, Kornhuber J, Becker KA, Gulbins E., Free PMC Article

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment.
Thurberg BL, Diaz GA, Lachmann RH, Schiano T, Wasserstein MP, Ji AJ, Zaher A, Peterschmitt MJ.

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.
Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M.

Sphingomyelinases and Liver Diseases.
Insausti-Urkia N, Solsona-Vilarrasa E, Garcia-Ruiz C, Fernandez-Checa JC., Free PMC Article

Sphingolipid Metabolism in Glioblastoma and Metastatic Brain Tumors: A Review of Sphingomyelinases and Sphingosine-1-Phosphate.
Hawkins CC, Ali T, Ramanadham S, Hjelmeland AB., Free PMC Article

A photocaged inhibitor of acid sphingomyelinase.
Prause K, Naseri G, Schumacher F, Kappe C, Kleuser B, Arenz C.

In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity.
Ancien F, Pucci F, Rooman M., Free PMC Article

Nitric oxide induces HepG2 cell death via extracellular signal-regulated protein kinase activation by regulating acid sphingomyelinase.
Zhang L, Dai J, Zeng Z, Jia Y.

SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder.
Rudakou U, Futhey NC, Krohn L, Ruskey JA, Heilbron K, Cannon P, 23andMe Research Team, Alam A, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Toffoli M, Gigli GL, Valente M, Högl B, Stefani A, Holzknecht E, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, De Cock VC, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Gan-Or Z.

Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected Sibs.
Naifar M, Kallel F, HadjKacem F, Boudabous H, Kallel R, Boudawara T, Messaoud O, Tbib N, Charfi N, Abid M, Froissart R, Messedi SH, Ayedi F.

Comparative lipidomics of 5-Fluorouracil-sensitive and -resistant colorectal cancer cells reveals altered sphingomyelin and ceramide controlled by acid sphingomyelinase (SMPD1).
Jung JH, Taniguchi K, Lee HM, Lee MY, Bandu R, Komura K, Lee KY, Akao Y, Kim KP., Free PMC Article

Secretion of Acid Sphingomyelinase and Ceramide by Endothelial Cells Contributes to Radiation-Induced Intestinal Toxicity.
Leonetti D, Estéphan H, Ripoche N, Dubois N, Aguesse A, Gouard S, Brossard L, Chiavassa S, Corre I, Pecqueur C, Neunlist M, Hadchity E, Gaugler MH, Mahé MM, Paris F.