Results 131 to 140 of about 18,841 (183)

Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt. [PDF]

Mol Cell Pediatr
Youssef MAM, Shaker EH, Saleh NAM.
europepmc   +1 more source

Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease. [PDF]

Neurobiol Dis
Beard CA, Hermanson KN, Snider JM, Hara A, Dahl BK, Allopenna JJ, Marron MT, Newcomb B, Low BE, Wiles MV, Jenkins RW, Obeid LM, Hannun YA, Snider AJ.   +13 more
europepmc   +1 more source

Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project. [PDF]

Mediterr J Hematol Infect Dis
Costa A, Perra D, Mulas O, Podda L, Longu F, Fozza C, Palmas A, Curreli L, Cappellini MD, Zizzo C, Caocci G.   +10 more
europepmc   +1 more source

Molecular Maestro in the Lung: The Sphingolipid Rheostat. [PDF]

Am J Respir Cell Mol Biol
Rojas-Quintero J, Polverino F.
europepmc   +1 more source

Hidden Burden of Lipid Accumulation: A Clinical Case of Niemann-Pick Disease. [PDF]

Cureus
Ghonaimat RA, Shneikat A, Foudeh BM, Alsamhouri I.   +3 more
europepmc   +1 more source

Sphingolipid homeostasis and dysregulation in liver function and disease. [PDF]

Life Metab
Lan J, Pan Z, Dong W, Wang J, Zhang C, Zhang Y, Wu Y, Jin J.   +7 more
europepmc   +1 more source

Sphingolipids in Gaucher disease: a systematic review. [PDF]

Orphanet J Rare Dis
Lake A, Fuller M.
europepmc   +1 more source

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Acid Sphingomyelinase

2013
The enzyme acid sphingomyelinase catalyzes the hydrolysis of sphingomyelin to ceramide. The importance of the enzyme for cell functions was first recognized in Niemann-Pick disease type A and B, the genetic disorders with a massive accumulation of sphingomyelin in many organs. Studies in the last years demonstrated that the enzyme also has an important
Henry, Brian, Ziobro, Regan, Becker, Katrin Anne, Kolesnick, Richard, Gulbins, Erich   +4 more
openaire   +3 more sources

Sphingomyelinases in cell regulation

Seminars in Cell & Developmental Biology, 1997
Sphingomyelin hydrolysis and ceramide generation have emerged as key events in cellular regulation. Sphingomyelinases (SMases) catalyse the breakdown of sphingomyelin to form ceramide and phosphorylcholine. Ceramide formed through activation of SMases may function as a second messenger in mediating cell growth, differentiation, stress responses, and ...
, Liu, , Obeid, , Hannun
openaire   +2 more sources

Secretory sphingomyelinase in health and disease

Biological Chemistry, 2015
AbstractAcid sphingomyelinase (ASM), a key enzyme in sphingolipid metabolism, hydrolyzes sphingomyelin to ceramide and phosphorylcholine. In mammals, the expression of a single gene,SMPD1,results in two forms of the enzyme that differ in several characteristics.
Christiane Muhle, Cosima Rhein, Christian Müller   +2 more
exaly   +3 more sources