Results 81 to 90 of about 2,335 (161)

SMPD1 wt Allele [PDF]

, 2020
openaire   +1 more source

The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency

Genetics in Medicine Open
Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder caused by pathogenic variants in the SMPD1 gene causing low or absent activity of the enzyme acid sphingomyelinase, resulting in subsequent accumulation of its substrate ...
Monica Kumar, Mario Aguiar, Andreas Jessel, Beth L. Thurberg, Lisa Underhill, Holly Wong, Kelly George, Vanessa Davidson, Edward H. Schuchman   +8 more
doaj   +1 more source

Modular inflammation network discovery from large-scale phenotypic screening in genetically heterogeneous mouse brains

Journal of Neuroinflammation
The central nervous system (CNS) represents a uniquely immune-privileged environment, with inflammatory responses involving several resident CNS-specific cell types.
Monica Xiong, Lisa A. Miosge, Carolina Correa-Ospina, Claudia M. Y. Yan, Tiffany Cripps, Stefan Bauernfried, Yuanyuan Wang, Maggie Crow, Lucy X. Morris, T. Daniel Andrews, Andrew Trujillo, Mitchell G. Rezzonico, Yuxin Liang, Qixin Bei, Zora Modrusan, Kimberly L. Stark, Tracy J. Yuen, Brad A. Friedman, Jesse E. Hanson, Edward M. Bertram, Christopher J. Bohlen   +20 more
doaj   +1 more source

Targeting CD44 reverses sphingomyelin-induced oligodendrocyte maturation arrest in acid sphingomyelinase deficiency

EMBO Molecular Medicine
Loss-of-function mutations in the smpd1 gene cause acid sphingomyelinase deficiency (ASMD). Early neurodegeneration and lethality characterize its infantile neurovisceral form (type A).
Marta Guerrero-Valero, Elena Melgarejo, Miguel A Marchena, Beatriz Fernández-Gómez, Jaime Mulero-Franco, Fernando de Castro, Edward H Schuchman, María Dolores Ledesma   +7 more
doaj   +1 more source

Potential Mechanisms of Platelet Dysfunction and Bleeding in Acid Sphingomyelinase Deficiency. [PDF]

Cells
Sysoev M, Solovyov D, Shestopalov A, Kutsev S.   +3 more
europepmc   +1 more source

Sphingomyelin phosphodiesterase 1 acid lysosomal (SMPD1; ASM) [PDF]

Science-Business eXchange, 2014
openaire   +1 more source

Lipid metabolism as a marker for glioma aggressiveness. [PDF]

Biosci Rep
Ribas HT, Ribas GT, Paixão de Santana-Filho A, Jungles AG, Mesaros C, Guizelini D, Martinez GR, Trombetta-Lima M, Sassaki GL, Winnischofer SMB.   +9 more
europepmc   +1 more source

Sphingomyelin phosphodiesterase 1 acid lysosomal (SMPD1; ASM) [PDF]

Science-Business eXchange, 2013
openaire   +1 more source

Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction. [PDF]

Pediatr Pulmonol
Tabakçı SÖ, Akyan Soydaş ŞS, Tuğcu GD, Cinel G, Sağdıç AC, Özçelik U, Can Oksay S, Korkmaz Ç, Zirek F, Kekeç H, Gülen F, Hangül M, Özsezen B, Altıntaş DU, Çağlar HT, Başaran AE, Uyan ZS, Özdemir A, Ramaslı Gürsoy T, Yalçın E, Emiralioğlu N, Girit S, Kılınç AA, Çobanoğlu N, Şişmanlar Eyüboğlu T, Pekcan S, Gökdemir Y, Oğuz B, Orhan D, Ceylan AC, Kiper N.   +30 more
europepmc   +1 more source

Inhibition of acid sphingomyelinase links sphingolipid remodeling to necroptotic cell death. [PDF]

RSC Chem Biol
Pilapil LAE, Chitkara S, Atilla-Gokcumen GE.   +2 more
europepmc   +1 more source