Results 121 to 130 of about 2,335 (161)

Defining treatment-resistant brain cancer: Genetic screening to identify oncogene-driven immunomodulation and therapy resistance. [PDF]

Cancer Gene Ther
Myers ZD, Matosevic S.
europepmc   +1 more source

Investigation on Inhibiting SPHK - S1P Pathway to Improve ADHD Model Rats Behavior via Lipidomics. [PDF]

Neuropsychiatr Dis Treat
Chai D, Sun Y, Lu J, Yao Y, Jiang C, Wu L, Cai Q.   +6 more
europepmc   +1 more source

Screening of Heat-Resistant <i>Morchella</i> Strains and Elucidation of Their Heat-Tolerance Mechanisms. [PDF]

Biology (Basel)
Wu Q, You X, Zheng L, Li Z, Da D, Chen H, Cao Y, Fan Y, Li M, Li W.   +9 more
europepmc   +1 more source

Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk. [PDF]

Nat Aging
Chew EG, Liu Z, Li Z, Chung SJ, Lian MM, Tandiono M, Heng YJ, Ng EY, Tan LC, Chng WL, Tan TJ, Peh EK, Ho YS, Chen XY, Lim EY, Chang CH, Leong JJ, Peh TX, Chan LL, Chao Y, Au WL, Prakash KM, Lim JL, Tay YW, Mok V, Chan AY, Lin JJ, Jeon BS, Song K, Tham CC, Pang CP, Ahn J, Park KH, Wiggs JL, Aung T, Tan AH, Ahmad Annuar A, Makarious MB, Blauwendraat C, Nalls MA, Robak LA, Alcalay RN, Gan-Or Z, Reynolds R, Lim SY, Xia Y, Khor CC, Tan EK, Wang Z, Foo JN.   +49 more
europepmc   +1 more source

Coexistence of acid sphingomyelinase deficiency type A/B and Arnold-Chiari malformation: a novel case report. [PDF]

Front Pediatr
Kamalova A, Rakhmaeva R, Sageeva G, Safiullina R, Raimova A, Gaichik E, Nasr D, Gobarah AA, Arafat A.   +8 more
europepmc   +1 more source

SMPD1 gene variants in patients with β-Thalassemia major [PDF]

Molecular Biology Reports, 2023
Abstract Background β-thalassemia major and Niemann-Pick diseases have similar clinical and laboratory findings. We aimed to investigate the effects of sphingomyelin phosphodiesterase 1 (SMPD1) gene variants on the clinical and laboratory findings in patients with β-thalassemia major ...
Filiz Özen, Fadime Ersoy Dursun
exaly   +5 more sources

mRNA Expression of SMPD1 Encoding Acid Sphingomyelinase Decreases upon Antidepressant Treatment [PDF]

International Journal of Molecular Sciences, 2021
Major depressive disorder (MDD) is a severe psychiatric condition with key symptoms of low mood and lack of motivation, joy, and pleasure. Recently, the acid sphingomyelinase (ASM)/ceramide system has been implicated in the pathogenesis of MDD. ASM is a lysosomal glycoprotein that catalyzes the hydrolysis of sphingomyelin, an abundant component of ...
Tanja Richter-Schmidinger, Bernd Lenz, Iulia Zoicas   +2 more
exaly   +4 more sources

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SMPD1 mutations and Parkinson disease

Parkinsonism and Related Disorders, 2015
Z Borochowitz, R Gershoni-Baruch
exaly   +3 more sources

SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease

Parkinsonism and Related Disorders, 2017
A founder mutation, p.L302P, in sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), causing Niemann-Pick disease, a recessive lysosomal storage disorder, was reported to be associated with increased risk of Parkinson's disease (PD) in Ashkenazi Jewish population.
Pan Du, Yuming Xu, Hai-Yang Luo
exaly   +3 more sources