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在“Elsevier电子期刊”中，命中：26条，耗时：0.0399869 秒

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

作者：Cheng-yuan Mao^a ; ^b ; ¹ ; Jing Yang^a ; ^b ; ¹ ; Hui Wang^a ; ^b ; ¹ ; Shu-yu Zhang^a ; ^b ; Zhi-hua Yang^a ; ^b ; Hai-yang Luo^a ; ^b ; Fang Li^a ; ^b ; Mengmeng Shi^a ; ^b ; Yu-tao Liu^a ; Zheng-ping Zhuang^c ; Pan Du^d ; Yao-he Wang^d ; Chang-he Shi^a ; ^b ; ^{shichanghe@gmail.com} ; Yu-ming Xu^a ; ^{xuyuming@zzu.edu.cn}

关键词：Parkinson's disease ; SMPD1 ; Variant ; Chinese population

刊名：Parkinsonism & Related Disorders

出版年：2017

2.Decreasing SMPD1 activity in BEAS-2B bronchial airway epithelial cells results in increased NRF2 activity, cytokine synthesis and neutrophil recruitment

作者：Elyse MacFadden-Murphy ; Lucie Roussel ; Guy Martel ; Julie Bé ; rubé ; Simon Rousseau ; ^{simon.rousseau@mcgill.ca}

关键词：Niemann-Pick disease ; Acidic sphingomyelinase ; Airway epithelium ; Interleukins ; Pseudomonas aeruginosa ; Reactive oxygen species

刊名：Biochemical and Biophysical Research Communications

出版年：2017

3.Alternative splicing of SMPD1 coding for acid sphingomyelinase in major depression

作者：Cosima Rhein^a ; ^b ; ^{Cosima.Rhein@uk-erlangen.de} ; Martin Reichel^a ; ¹ ; Marcel Kramer^c ; ^d ; Andrea Rotter^a ; Bernd Lenz^a ; Christiane Mü ; hle^a ; Erich Gulbins^e ; Johannes Kornhuber^a

关键词：Acid sphingomyelinase ; Alternative splicing ; Major depression ; Functional inhibitors of ASM activity (FIASMAs) ; Antidepressant drugs ; Fluoxetine ; Paroxetine

刊名：Journal of Affective Disorders

出版年：2017

4.Parkinson disease penetrance in obligate carriers of SMPD1 mutations

刊名：Molecular Genetics and Metabolism

出版年：2017

5.The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies

作者：Ziv Gan-Or ; ^{ziv.gan-or@mail.mcgill.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：SMPD1 ; GBA ; Parkinson's disease ; Genetics

刊名：Parkinsonism & Related Disorders

出版年：2015

6.Infantile spasms in early-onset Niemann-Pick disease with a novel compound heterozygous mutations in SMPD1 gene

作者：Massimiliano Chetta^a ; ¹ ; Anna Guacci^a ; ¹ ; Francesca Rizzo^a ; Giovanna Marchese^a ; ^b ; Francesca Felicia Operto^c ; Alessandro Weisz^a ; ^d ; ^{aweisz@unisa.it" class="auth_mail" title="E-mail the corresponding author} ; Giangennaro Coppola^c ; ^{gcoppola@unisa.it" class="auth_mail" title="E-mail the corresponding author}

关键词：Niemann&ndash ; Pick disease ; NPA ; NPB ; SMPD1 ; NGS ; Exome sequencing

刊名：New Horizons in Translational Medicine

出版年：2015

7.Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

关键词：Oxysterols ; Niemann-Pick ; Liquid chromatography-tandem&ndash ; mass spectrometry ; Variant biochemical phenotype

刊名：Clinica Chimica Acta

出版年：2016

8.Resveratrol-induced transcriptional up-regulation of ASMase (SMPD1) of human leukemia and cancer cells

作者：Naoki Mizutani^a ; ^b ; Yukari Omori^a ; Yoshiyuki Kawamoto^b ; Sayaka Sobue^b ; Masatoshi Ichihara^b ; Motoshi Suzuki^c ; Mamoru Kyogashima^d ; Mitsuhiro Nakamura^e ; Keiko Tamiya-Koizumi^b ; Yoshinori Nozawa^f ; Takashi Murate^b ; ^{murate@isc.chubu.ac.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：Resveratrol ; Cell growth inhibition ; Ceramide ; Acid sphingomyelinase ; Transcriptional regulation ; ERG transcription factor

刊名：Biochemical and Biophysical Research Communications

出版年：2016

9.Association of the MTHFR rs1801131 and rs1801133 variants in sporadic Parkinson’s disease patients

作者：Lamei Yuan^a ; ^b ; Zhi Song^b ; Xiong Deng^a ; Wei Xiong^c ; Zhijian Yang^a ; Hao Deng^a ; ^b ; ^{hdeng008@yahoo.com" class="auth_mail" title="E-mail the corresponding author}

关键词：PD ; Parkinson&rsquo ; s disease ; MAPT ; the microtubule-associated protein tau gene ; GBA ; the glucocerebrosidase gene ; SMPD1 ; the sphingomyelin phosphodiesterase 1 ; acid lysosomal gene ; MTHFR ; the methylenetetrahydrofolate reductase gene ; dbSNP ; database of single nucleotide polymorphisms ; SIFT ; Sorting Intolerant from Tolerant ; PolyPhen-2 ; Polymorphism Phenotyping version 2 ; MALDI-TOF MS ; Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry ; PCR ; polymerase chain reaction

刊名：Neuroscience Letters

出版年：2016

10.Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency

作者：Mariana Acuñ ; a^a ; ^b ; ¹ ; ^{mariana.acuna1@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Ví ; ctor Castro-Ferná ; ndez^c ; ¹ ; ^{vcasfe@ug.uchile.cl" class="auth_mail" title="E-mail the corresponding author} ; Mauricio Latorre^b ; ^d ; ^e ; Juan Castro^a ; Edward H. Schuchman^f ; Victoria Guixé ; ^c ; Mauricio Gonzá ; lez^b ; ^d ; Silvana Zanlungo^a ; ^b ; ^{silvana@med.puc.cl" class="auth_mail" title="E-mail the corresponding author}

关键词：Niemann-pick disease ; Acid sphingomylienase ; SMPD1 mutations ; p.Ala359Asp

刊名：Biochemical and Biophysical Research Communications

出版年：2016

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