Results 11 to 20 of about 2,335 (161)

SMPD1 as a Potential Prognostic Biomarker in Glioma Is Associated With an Immunosuppressive Microenvironment. [PDF]

CNS Neurosci Ther
SMPD1 expression varies across different glioma subtypes and clinical features and is associated with poor prognosis. High SMPD1 levels are linked to an immunosuppressive tumor microenvironment, characterized by suppressed M1 macrophage polarization and enhanced M2‐like signatures.
Xu Y, Liu X, Xu B, Li Q, Zhang L, Li C, Zhao Z.   +6 more
europepmc   +4 more sources

Alternative splicing of SMPD1 in human sepsis. [PDF]

PLoS ONE, 2015
Acid sphingomyelinase (ASM or sphingomyelin phosphodiesterase, SMPD) activity engages a critical role for regulation of immune response and development of organ failure in critically ill patients.
Marcel Kramer, Stefanie Quickert, Christoph Sponholz, Uwe Menzel, Klaus Huse, Matthias Platzer, Michael Bauer, Ralf A Claus   +7 more
doaj   +4 more sources

Endogenous Ceramide 24:1 Constrains Th17-Driven Neutrophilic Inflammation by Antagonizing EP2 Signaling. [PDF]

Adv Sci (Weinh)
Cer24:1 levels are reduced in neutrophilic asthma and inversely correlate with disease severity and airway neutrophilia. Restoring Cer24:1 suppresses pathogenic Th17 differentiation by engaging EP2 on CD4+ T cells, thereby dampening the JAK2–STAT3–RORγt axis and reducing IL‐17 production.
Liu H, Aili A, Kuang Z, Cao L, Li Z, Shang Y, Ge Y, Hu T, Sun Y, Zhao W, Jin R, Chang C, Chang C.   +12 more
europepmc   +2 more sources

Upregulation of sphingomyelin and ABCA8 in response to TDP-43 pathology in amyotrophic lateral sclerosis brain. [PDF]

Brain Pathol
Increases in sphingomyelin in response to TDP‐43 pathology in the disease‐affected motor cortex of amyotrophic lateral sclerosis (ALS) brain. Abstract Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease characterized by the degeneration of motor neurons and the presence of TAR DNA‐binding protein 43 (TDP‐43 ...
Isik FI, Pickford R, Dzamko N, Rye KA, Kim WS.   +4 more
europepmc   +2 more sources

SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency

Hereditas, 2023
Background Acid sphingomyelinase deficiency (ASMD) disorder, also known as Niemann–Pick disease (NPD) is a rare genetic disease caused by mutations in SMPD1 gene, which encodes sphingomyelin phosphodiesterase (ASM).
Ruisong Wang, Ziyi Qin, Long Huang, Huiling Luo, Han Peng, Xinyu Zhou, Zhixiang Zhao, Mingyao Liu, Pinhong Yang, Tieliu Shi   +9 more
doaj   +1 more source

Gene expression of ceramide metabolism enzymes in fat depots of different localization in cardiovascular diseases

Российский кардиологический журнал, 2023
Aim. To assess gene expression of enzymes of the sphingomyelinase pathway of ceramide biosynthesis and degradation in fat depots of various localization in patients with cardiovascular diseases.Material and methods.
O. V. Gruzdeva, E. V. Belik, Yu. A. Dyleva, E. G. Uchasova, A. V. Ponasenko, A. G. Kutikhin, V. E. Markova, E. E. Gorbatovskaya, E. V. Fanaskova, S. V. Ivanov, A. N. Stasev, M. G. Zinets, T. A. Slesareva, O. L. Barbarash   +13 more
doaj   +1 more source

SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease [PDF]

Movement Disorders, 2019
AbstractBackground SMPD1 (acid‐sphingomyelinase) variants have been associated with Parkinson's disease in recent studies. The objective of this study was to further investigate the role of SMPD1 mutations in PD.Methods SMPD1 was sequenced in 3 cohorts (Israel Ashkenazi Jewish cohort, Montreal/Montpellier, and New York), including 1592 PD patients and ...
Alcalay, Roy, Mallett, Victoria, Vanderperre, Benoît, Tavassoly, Omid, Dauvilliers, Yves, Wu, Richard, Ruskey, Jennifer, Leblond, Claire, Ambalavanan, Amirthagowri, Laurent, Sandra, Spiegelman, Dan, Dionne-Laporte, Alexandre, Liong, Christopher, Levy, Oren, Fahn, Stanley, Waters, Cheryl, Kuo, Sheng-Han, Chung, Wendy, Ford, Blair, Marder, Karen, Kang, Un Jung, Hassin-Baer, Sharon, Greenbaum, Lior, Trempe, Jean-Francois, Wolf, Pavlina, Oliva, Petra, Zhang, Xiaokui Kate, Clark, Lorraine, Langlois, Mélanie, Dion, Patrick, Fon, Edward, Dupre, Nicolas, Rouleau, Guy, Gan-Or, Ziv   +33 more
openaire   +2 more sources

Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene [PDF]

Veterinary Pathology, 2020
A 4-month-old female mixed-breed cat showed gait disturbance and eventual dysstasia with intention tremor and died at 14 months of age. Postmortem histological analysis revealed degeneration of neuronal cells, alveolar epithelial cells, hepatocytes, and renal tubular epithelial cells.
Yuta Takaichi, James K. Chambers, Mun Keong Kok, Hiroki Uchiyama, Makoto Haritani, Daisuke Hasegawa, Hiroyuki Nakayama, Kazuyuki Uchida   +7 more
openaire   +2 more sources

Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants

Journal of Biochemical and Clinical Genetics, 2019
Background: Niemann–Pick (NP) disease is a genetically heterogeneous metabolic disorder caused by bi-allelic variants in NPC1, NPC2, or SMPD1, with initial symptoms and age at onset varying widely.
Vindhya Lakmali Miyanawala, Christian Beetz, Samantha Waidyanatha, Sabine Schroder, Vasiliki Karageorgou, Claudia Cozma, Eresha Jasinge, Arndt Rolfs   +7 more
doaj   +1 more source

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease. [PDF]

PLoS ONE, 2015
Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also contribute to disease pathogenesis.We performed a genetic analysis of four LSD genes including GBA, HEXA ...
Lorraine N Clark, Robin Chan, Rong Cheng, Xinmin Liu, Naeun Park, Nancy Parmalee, Sergey Kisselev, Etty Cortes, Paola A Torres, Gregory M Pastores, Jean P Vonsattel, Roy Alcalay, Karen Marder, Lawrence L Honig, Stanley Fahn, Richard Mayeux, Michael Shelanski, Gilbert Di Paolo, Joseph H Lee   +18 more
doaj   +1 more source