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在“Elsevier电子期刊”中，命中：269条，耗时：0.0779608 秒

在所有数据库中总计命中：425条

1.A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline

作者：Samantha J. Hindle^a ; ¹ ; Sarita Hebbar^b ; ² ; Dominik Schwudke^b ; ³ ; Christopher J.H. Elliott^a ; Sean T. Sweeney^a ; ^{sean.sweeney@york.ac.uk}

关键词：PSAP ; prosaposin ; ERG ; electroretinograms ; LSD ; lysosomal storage disease ; NPC ; Niemann-Pick type C ; GFP ; green fluorescent protein ; RT-PCR ; reverse transcription PCR ; TEM ; transmission electron microscopy ; MVB ; multivesicular body ; MLB ; multilamellar body ; HSAN1 ; hereditary sensory and autonomic neuropathy type 1

刊名：Neurobiology of Disease

出版年：2017

2.Deficiency of glycerol-3-phosphate acyltransferase 1 decreases triacylglycerol storage and induces fatty acid oxidation in insect fat body

作者：Michele Alves-Bezerra^a ; ^b ; Isabela B. Ramos^a ; Iron F. De Paula^a ; Clarissa M. Maya-Monteiro^c ; Eric L. Klett^b ; ^d ; Rosalind A. Coleman^b ; Katia C. Gondim^a ; ^{katia@bioqmed.ufrj.br}

关键词：ACBP1 ; acyl-CoA-binding protein 1 ; ACSL1 ; acyl-CoA synthetase 1 ; BAT ; brown adipose tissue ; CPT1 ; carnitine palmitoyltransferase 1 ; DAG ; diacylglycerol ; ER ; endoplasmic reticulum ; G3P ; glycerol-3-phosphate ; GPAT ; glycerol-3-phosphate acyltransferase ; LD ; lipid droplet ; LPA ; lysophosphatidic acid ; NEM ; N-ethylmaleimide ; PA ; phosphatidic acid ; PL ; phospholipid ; TAG ; triacylglycerol

刊名：Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

出版年：2017

3.Skin Barrier Development Depends on CGI-58 Protein Expression during Late-Stage Keratinocyte Differentiation

作者：Susanne Grond¹ ; ⁸ ; Franz P.W. Radner¹ ; ⁸ ; Thomas O. Eichmann¹ ; Dagmar Kolb² ; Gernot F. Grabner¹ ; Heimo Wolinski¹ ; ³ ; Robert Gruber⁴ ; Peter Hofer¹ ; Christoph Heier¹ ; Silvia Schauer⁵ ; ⁶ ; Thomas Rü ; licke⁵ ; Gerald Hoefler³ ; ⁵ ; ⁶ ; Matthias Schmuth⁴ ; Peter M. Elias⁷ ; Achim Lass¹ ; Rudolf Zechner¹ ; Guenter Haemmerle¹ ; ^{guenter.haemmerle@uni-graz.at}

关键词：ATGL ; adipose triglyceride lipase ; CE ; cornified envelope ; CGI-58 ; comparative gene identification-58 ; CLE ; corneocyte lipid envelope ; En ; embryonic day n ; FA ; fatty acid ; FLG ; filaggrin ; IVL ; involucrin ; Kn ; keratin n ; NLSDI ; neutral lipid storage disease with ichthyosis ; ω-O-AcylCer ; ω-O-acylceramide ; ω-OH-Cers ; ω-hydroxy-ceramides ; SC ; stratum corneum ; TEM ; transmission electron microscopy ; TEWL ; transepidermal water loss ; TG ; triglyceride ; WT ; wild type

刊名：Journal of Investigative Dermatology

出版年：2017

4.The effect of amino acid deprivation on the transfer of iron through Caco-2 cell monolayers

作者：Guenievre Roussel ^{guenievre.roussel@abdn.ac.uk} ; Valerie Stevens ^{v.stevens@abdn.ac.uk} ; Sarah Cottin ^{sarah.c.cottin@gmail.com} ; Harry J. McArdle ; ^{h.mcardle@abdn.ac.uk}

关键词：Amino acid deprivation ; Nutrient transfer ; Gut transport

刊名：Journal of Trace Elements in Medicine and Biology

出版年：2017

5.Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts

作者：Keisuke Kitakaze^a ; Chikako Tasaki^a ; Youichi Tajima^b ; Takatsugu Hirokawa^c ; Daisuke Tsuji^a ; Hitoshi Sakuraba^d ; Kohji Itoh^a ; ^{kitoh@tokushima-u.ac.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：CI-M6PR ; cation-independent M6P receptor ; CM ; conditioned medium ; ERT ; enzyme replacement therapy ; GM2 ; GM2 ganglioside ; GM2A ; GM2 activator protein ; Hex ; β-hexosaminidase ; LAMP-1 ; lysosomal associated membrane protein 1 ; LSD ; lysosomal storage disease ; M6P ; mannose-6-phosphate ; modB ; modified HexB ; SD ; Sandhoff disease ; TSD ; Tay-Sachs disease

刊名：Biochemistry and Biophysics Reports

出版年：2016

6.Induction of autophagy improves hepatic lipid metabolism in glucose-6-phosphatase deficiency

作者：Benjamin L. Farah¹ ; Dustin J. Landau² ; Rohit A. Sinha¹ ; Elizabeth D. Brooks² ; ³ ; Yajun Wu⁴ ; Suet Yin Sarah Fung⁵ ; Tomohiro Tanaka⁶ ; Masahiro Hirayama⁶ ; Boon-Huat Bay⁴ ; Dwight D. Koeberl² ; ⁷ ; ^{dwight.koeberl@duke.edu" class="auth_mail" title="E-mail the corresponding author} ; Paul M. Yen¹ ; ⁸ ; ^{paul.yen@duke-nus.edu.sg" class="auth_mail" title="E-mail the corresponding author}

关键词：G6Pase α ; glucose-6-phosphatase α ; G6PC ; glucose-6-phosphatase α catalytic subunit ; GSDIa ; glycogen storage disease type Ia ; G6P ; glucose-6-phosphate ; mTOR ; mammalian target of rapamycin ; AMPK ; 5&rsquo ; AMP-activated protein kinase ; ULK1 ; Unc51-like kinase 1 ; NAFLD ; non-alcoholic fatty liver disease ; GSDII ; glycogen storage disease type II ; LC3 ; microtubule-associated protein 1A/1B-light chain 3 ; C-C3 ; cleaved caspase 3 ; Rap ; rapamycin ; AAV ; adeno-associated virus ; GFP ; green fluorescent protein

刊名：Journal of Hepatology

出版年：2016

7.MRP4 (ABCC4) as a potential pharmacologic target for cardiovascular disease

作者：Tiphaine Belleville-Rolland^a ; ^b ; ^c ; ¹ ; Yassine Sassi^d ; ¹ ; Benoit Decouture^a ; ^b ; ¹ ; Elise Dreano^a ; ^b ; Jean-Sé ; bastien Hulot^e ; ^f ; Pascale Gaussem^a ; ^b ; ^c ; Christilla Bachelot-Loza^a ; ^b ; ^{christilla.bachelot-loza@parisdescartes.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：ABC ; ATP-binding cassette ; AC ; adenylate cyclase ; AKAP ; A-kinase anchoring protein ; AR ; adenosine receptor ; CABG ; coronary artery bypass graft ; cAMP ; cyclic adenosine monophosphate ; cGMP ; cyclic guanosine monophosphate ; COX ; cyclooxygenase ; δ-SPD ; δ-storage pool deficiency ; MRP ; multidrug resistance protein ; MSD ; membrane-spanning domain ; NBD ; nucleotide-binding domain ; NO ; nitric oxide ; PDE ; phosphodiesterase ; PGI2 ; prostaglandin I2 ; PKA ; protein kinase A ; PKG ; protein kinase G ; sGC ; soluble gu

刊名：Pharmacological Research

出版年：2016

8.Lipolysis and lipophagy in lipid storage myopathies

作者：Corrado Angelini^a ; ^{corrado.angelini@unipd.it" class="auth_mail" title="E-mail the corresponding author} ; Anna Chiara Nascimbeni^b ; Giovanna Cenacchi^c ; Elisabetta Tasca^a

关键词：ATGL ; adipose triglyceride lipase ; ATP-ase ; adenosine tri-phosphatase ; CD ; carnitine deficiency ; CK ; creatine kinase ; COX ; cytochrome oxidase ; CPT ; carnitine-palmitoyl-transferase ; DAPI ; 4&prime ; 6-diamidin-2-phenylindole ; EMG ; electromyography ; ETF ; electron transfer flavoprotein ; FOXO ; fork head box protein ; GAPDH ; glyceraldehyde 3-phosphate dehydrogenase ; HSL ; hormone-sensitive lipase ; LC3 ; microtubule-associated proteins light chain-3 ; LSM ; lipid storage myopathy ; MADD ; multiple acyl-CoA deh

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2016

9.Astrocytes and lysosomal storage diseases

作者：K.V. Rama Rao ; T. Kielian ; ^{tkielian@unmc.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：AD ; Alzheimer&rsquo ; s disease ; DAMP ; danger-associated molecular pattern ; GBA ; glucocerebrosidase ; GFAP ; glial fibrillary acidic protein ; GLD ; globoid cell leukodystrophy ; INCL ; infantile neuronal ceroid lipofuscinosis ; JNCL ; juvenile neuronal ceroid lipofuscinosis ; LINCL ; late infantile neuronal ceroid lipofuscinosis ; LMP ; lysosomal membrane permeability ; LSD ; lysosomal storage disease ; MSD ; multiple sulfatase deficiency ; NCL ; neuronal ceroid lipofuscinosis ; NPC ; Niemann-Pick type C ; PD ; Parkin

刊名：Neuroscience

出版年：2016

10.Histochemical localization of palmitoyl protein thioesterase-1 activity

作者：Joshua T. Dearborn^a ; Subramania Ramachandran^b ; Charles Shyng^a ; Jui-Yun Lu^c ; Jonah Thornton^b ; Sandra L. Hofmann^c ; ^{Sandra.Hofmann@UTSouthwestern.edu" class="auth_mail" title="E-mail the corresponding author} ; Mark S. Sands^a ; ^{msands@dom.wustl.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：INCL ; infantile neuronal ceroid lipofuscinosis ; PPT1 ; palmitoyl protein thioesterase-1 ; AAV ; adeno-associated virus ; WT ; wild-type ; PBS ; phosphate-buffered saline ; BBB ; blood&ndash ; brain barrier ; DMSO ; dimethyl sulfoxide ; PND ; postnatal day

刊名：Molecular Genetics and Metabolism

出版年：2016

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