NA05659
DNA from Fibroblast
Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Chest
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
4.41 |
| Passage Frozen |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Remarks |
Skin biopsy (chest); 46,XY |
| Hamamoto A, Kita N, Gowda SGB, Takatsu H, Nakayama K, Arita M, Hui SP, Shin HW, Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease Cell structure and function: 2023 |
| PubMed ID: 38072450 |
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| Nunes MJ, Carvalho AN, Reis J, Costa D, Moutinho M, Mateus J, de Almeida RM, Brito S, Risso D, Nunes S, Castro-Caldas M, Gama MJ, Rodrigues CMP, Xapelli S, Diógenes MJ, Cartier N, Chali F, Piguet F, Rodrigues E, Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration Biochimica et biophysica acta Molecular basis of disease:166993 2023 |
| PubMed ID: 38142760 |
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| Han S, Wang Q, Song Y, Pang M, Ren C, Wang J, Guan D, Xu W, Li F, Wang F, Zhou X, Fernández-Hernando C, Zhang H, Wu D, Ye Z, Lithium ameliorates Niemann-Pick C1 disease phenotypes by impeding STING/SREBP2 activation iScience26:106613 2022 |
| PubMed ID: 37128603 |
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| Lieberman R, Cortes LK, Gao G, Park H, Wang B, Jones PL, Hunter RB, Leonard JP, Barker RH, Human iPSC-derived astrocytes generated from donors with globoid cell leukodystrophy display phenotypes associated with disease PloS one17:e0271360 2022 |
| PubMed ID: 35921286 |
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| Panagaki T, Pecze L, Randi EB, Nieminen AI, Szabo C, Role of the cystathionine ß-synthase / H Redox biology55:102416 2022 |
| PubMed ID: 35921774 |
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| Argüello G, Balboa E, Tapia PJ, Castro J, Yañez MJ, Mattar P, Pulgar R, Zanlungo S, Genistein Activates Transcription Factor EB and Corrects Niemann-Pick C Phenotype International journal of molecular sciences22:102416 2021 |
| PubMed ID: 33921734 |
| |
| Huang X, Roeder A, Li R, Beers J, Liu C, Zou J, Yu PB, Zheng W, Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c 617G > A in the ACVR1 gene Stem cell research54:102424 2021 |
| PubMed ID: 34139597 |
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| Kang I, Yoo JM, Kim D, Kim J, Cho MK, Lee SE, Kim DJ, Lee BC, Lee JY, Kim JJ, Shin N, Choi SW, Lee YH, Ko HS, Shin S, Hong BH, Kang KS, Graphene Quantum Dots Alleviate Impaired Functions in Niemann-Pick Disease Type C in Vivo Nano letters21:2339-2346 2021 |
| PubMed ID: 33472003 |
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| Kutchukian C, Vivas O, Casas M, Jones JG, Tiscione SA, Simó S, Ory DS, Dixon RE, Dickson EJ, NPC1 regulates the distribution of phosphatidylinositol 4-kinases at Golgi and lysosomal membranes The EMBO journal21:e105990 2021 |
| PubMed ID: 34019311 |
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| Ohashi M, Tamura A, Yui N, Terminal Structure of Triethylene Glycol-Tethered Chains on ß-Cyclodextrin-Threaded Polyrotaxanes Dominates Temperature Responsivity and Biointeractions Langmuir : the ACS journal of surfaces and colloids37:11102-11114 2021 |
| PubMed ID: 34478294 |
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| Pradhan M, Farkhondeh A, Cheng YS, Xu M, Beers J, Zou J, Liu C, Might M, Rodems S, Baumgärtel K, Zheng W, An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, pR390P and pL318P, in the NGLY1 gene Stem cell research54:102400 2021 |
| PubMed ID: 34051448 |
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| Botté A, Lainé J, Xicota L, Heiligenstein X, Fontaine G, Kasri A, Rivals I, Goh P, Faklaris O, Cossec JC, Morel E, Rebillat AS, Nizetic D, Raposo G, Potier MC, Ultrastructural and dynamic studies of the endosomal compartment in Down syndrome Acta neuropathologica communications8:89 2020 |
| PubMed ID: 32580751 |
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| Du W, Gu M, Hu M, Pinchi P, Chen W, Ryan M, Nold T, Bannaga A, Xu H, Lysosomal Zn Cell reports37:109848 2020 |
| PubMed ID: 34686351 |
| |
| Even A, Morelli G, Turchetto S, Shilian M, Bail RL, Laguesse S, Krusy N, Brisker A, Brandis A, Inbar S, Chariot A, Saudou F, Dietrich P, Dragatsis I, Brone B, Broix L, Rigo JM, Weil M, Nguyen L, ATP-citrate lyase promotes axonal transport across species Nature communications12:5878 2020 |
| PubMed ID: 34620845 |
| |
| Goedeke L, Canfrán-Duque A, Rotllan N, Chaube B, Thompson BM, Lee RG, Cline GW, McDonald JG, Shulman GI, Lasunción MA, Suárez Y, Fernández-Hernando C, MMAB promotes negative feedback control of cholesterol homeostasis Nature communications12:6448 2020 |
| PubMed ID: 34750386 |
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| Ilnytska O, Lai K, Gorshkov K, Schultz ML, Tran BN, Jeziorek M, Kunkel TJ, Azaria RD, McLoughlin HS, Waghalter M, Xu Y, Schlame M, Altan-Bonnet N, Zheng W, Lieberman AP, Dobrowolski R, Storch J, Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage The Journal of biological chemistry12:100813 2020 |
| PubMed ID: 34023384 |
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| Janes V, Grabany S, Delbrouck J, Vincent SP, Gottschalk J, Elling L, Hanisch FG, Fluorinated Galactoses Inhibit Galactose-1-Phosphate Uridyltransferase and Metabolically Induce Galactosemia-like Phenotypes in HEK-293 Cells Cells9:100813 2020 |
| PubMed ID: 32138379 |
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| Lee SE, Shin N, Kook MG, Kong D, Kim NG, Choi SW, Kang KS, Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann-Pick disease type C Cell death & disease11:1059 2020 |
| PubMed ID: 33311479 |
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| Li R, Pradhan M, Xu M, Roeder A, Beers J, Zou J, Liu C, Porter FD, Zheng W, An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p I1061T (c 3182T>C) mutation in the NPC1 gene Stem cell research44:101737 2020 |
| PubMed ID: 32114296 |
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| Mullegama SV, Klein SD, Williams SR, Innis JW, Probst FJ, Haldeman-Englert C, Martinez-Agosto JA, Yang Y, Tian Y, Elsea SH, Ezashi T, Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes Scientific reports11:11295 2020 |
| PubMed ID: 34050248 |
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| Panagaki T, Randi EB, Szabo C, Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts Biomolecules10:11295 2020 |
| PubMed ID: 32340322 |
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| Subramanian K, Hutt DM, Scott SM, Gupta V, Mao S, Balch WE, Correction of Niemann-Pick type C1 trafficking and activity with the histone deacetylase inhibitor valproic acid The Journal of biological chemistry10:11295 2020 |
| PubMed ID: 32354745 |
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| Yañez MJ, Campos F, Marín T, Klein AD, Futerman AH, Alvarez AR, Zanlungo S, c-Abl activates RIPK3 signaling in Gaucher disease Biochimica et biophysica acta Molecular basis of disease1867:166089 2020 |
| PubMed ID: 33549745 |
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| Yañez MJ, Marín T, Balboa E, Klein AD, Alvarez AR, Zanlungo S, Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions Biochimica et biophysica acta Molecular basis of disease1866:165875 2020 |
| PubMed ID: 32522631 |
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| Baskfield A, Li R, Beers J, Zou J, Liu C, Zheng W, Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of pL43_A44delLA in the SMPD1 gene Stem cell research37:101436 2019 |
| PubMed ID: 31009819 |
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| Baskfield A, Li R, Beers J, Zou J, Liu C, Zheng W, An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous pL302P (c905 T>C) mutation in the SMPD1 gene Stem cell research38:101461 2019 |
| PubMed ID: 31132580 |
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| Cheng YS, Li R, Baskfield A, Beers J, Zou J, Liu C, Zheng W, A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying pR854X mutation in the GAA gene Stem cell research37:101435 2019 |
| PubMed ID: 31026687 |
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| Colussi DJ, Jacobson MA, Patient-Derived Phenotypic High-Throughput Assay to Identify Small Molecules Restoring Lysosomal Function in Tay-Sachs Disease SLAS discovery : advancing life sciences R & D24:295-303 2019 |
| PubMed ID: 30616450 |
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| Huang W, Xu M, Li R, Baskfield A, Kouznetsova J, Beers J, Zou J, Liu C, Zheng W, An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of pGlu153Lys in the NAGLU gene Stem cell research37:101427 2019 |
| PubMed ID: 30933722 |
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| Hwang S, Williams JF, Kneissig M, Lioudyno M, Rivera I, Helguera P, Busciglio J, Storchova Z, King MC, Torres EM, Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells Cell reports29:2473-2488.e5 2019 |
| PubMed ID: 31747614 |
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| Kassam S, Understanding Experiences of Social Support as Coping Resources among Immigrant and Refugee Women with Postpartum Depression: An Integrative Literature Review Issues in mental health nursing29:1-13 2019 |
| PubMed ID: 31070499 |
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| Lawrence R, Prill H, Vachali PP, Adintori EG, de Hart G, Wang RY, Burton BK, Pasquali M, Crawford BE, Characterization of disease-specific chondroitin sulfate non-reducing end accumulation in mucopolysaccharidosis IVA Glycobiology29:1-13 2019 |
| PubMed ID: 31897472 |
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| Li R, Baskfield A, Beers J, Zou J, Liu C, Alméciga-Díaz CJ, Zheng W, Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous pR61W and pWT405del mutations in the GALNS gene Stem cell research36:101408 2019 |
| PubMed ID: 30797135 |
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| Singhal A, Krystofiak ES, Jerome WG, Song B, 2-Hydroxypropyl-gamma-cyclodextrin overcomes NPC1 deficiency by enhancing lysosome-ER association and autophagy Scientific reports10:8663 2019 |
| PubMed ID: 32457374 |
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| Tiscione SA, Vivas O, Ginsburg KS, Bers DM, Ory DS, Santana LF, Dixon RE, Dickson EJ, Disease-associated mutations in Niemann-Pick type C1 alter ER calcium signaling and neuronal plasticity The Journal of cell biology10:8663 2019 |
| PubMed ID: 31601621 |
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| Xu X, Pradhan M, Xu M, Cheng YS, Beers J, Linask KL, Lin Y, Zheng W, Zou J, Four induced pluripotent stem cell lines (TRNDi021-C, TRNDi023-D, TRNDi024-D and TRNDi025-A) generated from fibroblasts of four healthy individuals Stem cell research49:102011 2019 |
| PubMed ID: 33038742 |
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| Yang S, Cheng YS, Li R, Pradhan M, Hong J, Beers J, Zou J, Liu C, Might M, Rodems S, Zheng W, An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous pR401X mutation in the NGLY1 gene Stem cell research39:101496 2019 |
| PubMed ID: 31326749 |
| |
| Ahmed AA1, Smoczer C1, Pace B1, Patterson D2,3, Cress Cabelof D1., Loss of DNA polymerase β induces cellular senescence Environmental and Molecular Mutagenesis
39:101496 2018 |
| PubMed ID: 29968395 |
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| Ashutosh Singhal, Lajos Szente, James E. K. Hildreth & Byeongwoon Song, Hydroxypropyl-beta and -gamma cyclodextrins rescue cholesterol accumulation in Niemann–Pick C1 mutant cell via lysosome-associated membrane protein 1 Cell Death and Disease9:1019 2018 |
| PubMed ID: 30282967 |
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| Fleischer JG, Schulte R, Tsai HH, Tyagi S, Ibarra A, Shokhirev MN, Huang L, Hetzer MW, Navlakha S, Predicting age from the transcriptome of human dermal fibroblasts Genome Biology19:1019 2018 |
| PubMed ID: 30567591 |
| |
| Flint M, Chatterjee P, Lin DL, McMullan LK, Shrivastava-Ranjan P, Bergeron É, Lo MK, Welch SR, Nichol ST, Tai AW, Spiropoulou CF, A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus Nature communications10:285 2018 |
| PubMed ID: 30655525 |
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| Fog CK, Zago P, Malini E, Solanko LM, Peruzzo P, Bornaes C, Magnoni R, Mehmedbasic A, Petersen NHT, Bembi B, Aerts JFMG, Dardis A, Kirkegaard T, The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase EBioMedicine38:142-153 2018 |
| PubMed ID: 30497978 |
| |
| Kim Y1, Zheng X2, Ansari Z1, Bunnell MC1, Herdy JR1, Traxler L3, Lee H1, Paquola ACM4, Blithikioti C1, Ku M5, Schlachetzki JCM6, Winkler J7, Edenhofer F8, Glass CK9, Paucar AA1, Jaeger BN1, Pham S1, Boyer L1, Campbell BC1, Hunter T2, Mertens J10, Gage FH, Mitochondrial Aging Defects Emerge in Directly Reprogrammed Human Neurons due to Their Metabolic Profile Cell Reports23:2550-2558 2018 |
| PubMed ID: 29847787 |
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| Li R, Baskfield A, Lin Y, Beers J, Zou J, Liu C, Jaffré F, Roberts AE, Ottinger EA, Kontaridis MI, Zheng W, Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a pQ510P mutation in the PTPN11 gene Stem cell research34:101374 2018 |
| PubMed ID: 30640061 |
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| Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong Zou, Angela J. Espejo-Mojica, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz, Luis A. Barrera, Xuntian Jiang, Daniel S. Ory, Juan J. Marugan and Wei Zheng, Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease Orphanet Journal of Rare Diseases13:152 2018 |
| PubMed ID: 30220252 |
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| Vivas O, Tiscione SA, Dixon RE, Ory DS, Dickson EJ, Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P Cell reports27:2636-2648.e4 2018 |
| PubMed ID: 31141688 |
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| Wang C, Scott SM, Subramanian K, Loguercio S, Zhao P, Hutt DM, Farhat NY, Porter FD, Balch WE, Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process Nature communications10:5052 2018 |
| PubMed ID: 31699992 |
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| György B, Cruz L, Yellen D, Aufiero M, Alland I, Zhang X, Ericsson M, Fraefel C, Li YC, Takeda S, Hyman BT, Breakefield XO, Mutant torsinA in the heterozygous DYT1 state compromises HSV propagation in infected neurons and fibroblasts Scientific reports8:2324 2017 |
| PubMed ID: 29396398 |
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| Sima N, Li R, Huang W, Xu M, Beers J, Zou J, Titus S, Ottinger EA, Marugan JJ, Xie X, Zheng W, Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses Orphanet journal of rare diseases13:54 2017 |
| PubMed ID: 29631617 |
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| Corcelle-Termeau E, Vindeløv SD, Hämälistö S, Mograbi B, Keldsbo A, Bräsen JH, Favaro E, Adam D, Szyniarowski P, Hofman P, Krautwald S, Farkas T, Petersen NH, Rohde M, Linkermann A, Jäättelä M, Excess sphingomyelin disturbs ATG9A trafficking and autophagosome closure Autophagy12:833-49 2016 |
| PubMed ID: 27070082 |
| |
| Salman A, Cougnoux A, Farhat N, Wassif CA, Porter FD, Association of NPC1 variant pP237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients American journal of medical genetics Part A173:1038-1040 2016 |
| PubMed ID: 28328115 |
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| Long Y, Xu M, Li R, Dai S, Beers J, Chen G, Soheilian F, Baxa U, Wang M, Marugan JJ, Muro S, Li Z, Brady R, Zheng W, Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A Stem cells translational medicine5:1644-1655 2015 |
| PubMed ID: 27484861 |
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| Xu CC, Denton KR, Wang ZB, Zhang X, Li XJ, Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy Disease models & mechanisms9:39-49 2015 |
| PubMed ID: 26586529 |
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| Yu D, Swaroop M, Wang M, Baxa U, Yang R, Yan Y, Coksaygan T, DeTolla L, Marugan JJ, Austin CP, McKew JC, Gong DW, Zheng W, Niemann-Pick Disease Type C: Induced Pluripotent Stem Cell-Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy Journal of biomolecular screening19:1164-73 2014 |
| PubMed ID: 24907126 |
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| Chen JY, Lin JR, Tsai FC, Meyer T., Dosage of Dyrk1a Shifts Cells within a p21-Cyclin D1 Signaling Map to Control the Decision to Enter the Cell Cycle. Mol Cell.52(1):87-100 2013 |
| PubMed ID: 24119401 |
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| Singh RD, Schroeder AS, Scheffer L, Holicky EL, Wheatley CL, Marks DL, Pagano RE, Prominin-2 expression increases protrusions, decreases caveolae and inhibits Cdc42 dependent fluid phase endocytosis Biochemical and biophysical research communications434:466-72 2013 |
| PubMed ID: 23583380 |
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| Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013 |
| PubMed ID: 23983233 |
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| Appelqvist H, Sandin L, Björnström K, Saftig P, Garner B, Ollinger K, Kågedal K, Sensitivity to lysosome-dependent cell death is directly regulated by lysosomal cholesterol content PloS one7:e50262 2012 |
| PubMed ID: 23166840 |
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| Swaroop M1, Thorne N, Rao MS, Austin CP, McKew JC, Zheng W., Evaluation of cholesterol reduction activity of methyl-β-cyclodextrin using differentiated human neurons and astrocytes. J Biomol Screen17(9):1243-51 2012 |
| PubMed ID: 22923786 |
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| Thacker JD1, Balin BJ, Appelt DM, Sassi-Gaha S, Purohit M, Rest RF, Artlett CM., NLRP3 inflammasome is a target for development of broad-spectrum anti-infective drugs. Antimicrob Agents Chemother56(4):1921-30 2012 |
| PubMed ID: 22290938 |
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| Xu M1, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W., δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem287(47):39349-60 2012 |
| PubMed ID: 23035117 |
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| Brett CL, Kallay L, Hua Z, Green R, Chyou A, Zhang Y, Graham TR, Donowitz M, Rao R, Genome-wide analysis reveals the vacuolar pH-stat of Saccharomyces cerevisiae PloS one6:e17619 2011 |
| PubMed ID: 21423800 |
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| Arora S, Gonzales IM, Hagelstrom RT, Beaudry C, Choudhary A, Sima C, Tibes R, Mousses S, Azorsa DO, RNAi phenotype profiling of kinases identifies potential therapeutic targets in Ewing's sarcoma Molecular cancer9:218 2010 |
| PubMed ID: 20718987 |
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| Sassi-Gaha S, Loughlin DT, Kappler F, Schwartz ML, Su B, Tobia AM, Artlett CM, Two dicarbonyl compounds, 3-deoxyglucosone and methylglyoxal, differentially modulate dermal fibroblasts Matrix biology : journal of the International Society for Matrix Biology29:127-34 2009 |
| PubMed ID: 19800404 |
| |
| Duarte TL, Cooke MS, Jones GD, Gene expression profiling reveals new protective roles for vitamin C in human skin cells Free radical biology & medicine46:78-87 2008 |
| PubMed ID: 18973801 |
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| Goel A, Carlson SK, Classic KL, Greiner S, Power AT, Bell JC, Russell SJ, Radioiodide imaging and radiovirotherapy of multiple myeloma using VSV({Delta}51)-NIS, an attenuated vesicular stomatitis virus encoding the sodium iodide symporter gene Blood110(7):2342-49 2007 |
| PubMed ID: 17515401 |
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| Ladasky JJ, Boyle S, Seth M, Li H, Pentcheva T, Abe F, Steinberg SJ, Edidin M, Bap31 enhances the endoplasmic reticulum export and quality control of human class I MHC molecules Journal of immunology (Baltimore, Md : 1950)177:6172-81 2006 |
| PubMed ID: 17056546 |
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| Singh RD, Liu Y, Wheatley CL, Holicky EL, Makino A, Marks DL, Kobayashi T, Subramaniam G, Bittman R, Pagano RE, Caveolar endocytosis and microdomain association of a glycosphingolipid analog is dependent on its sphingosine stereochemistry The Journal of biological chemistry281:30660-8 2006 |
| PubMed ID: 16893900 |
| |
| Choudhury A, Marks DL, Proctor KM, Gould GW, Pagano RE, Regulation of caveolar endocytosis by syntaxin 6-dependent delivery of membrane components to the cell surface Nature cell biology8:317-28 2005 |
| PubMed ID: 16565709 |
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| Narita K, Choudhury A, Dobrenis K, Sharma DK, Holicky EL, Marks DL, Walkley SU, Pagano RE, Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storage The FASEB journal : official publication of the Federation of American Societies for Experimental Biology19:1558-60 2005 |
| PubMed ID: 15972801 |
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| Passeggio J, Liscum L, Flux of fatty acids through NPC1 lysosomes The Journal of biological chemistry280:10333-9 2005 |
| PubMed ID: 15632139 |
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| Pipalia NH, Huang A, Ralph H, Rujoi M, Maxfield FR, Automated microscopy screening for compounds that partially revert cholesterol accumulation in Niemann-Pick C cells Journal of lipid research47:284-301 2005 |
| PubMed ID: 16288097 |
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| Sharma DK, Brown JC, Cheng Z, Holicky EL, Marks DL, Pagano RE, The glycosphingolipid, lactosylceramide, regulates beta1-integrin clustering and endocytosis. Cancer Res65(18):8233-41 2005 |
| PubMed ID: 16166299 |
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| Walker LC, Overstreet MA, Siddiqui A, De Paepe A, Ceylaner G, Malfait F, Symoens S, Atsawasuwan P, Yamauchi M, Ceylaner S, Bank RA, Yeowell HN, A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient The Journal of investigative dermatology124:914-8 2005 |
| PubMed ID: 15854030 |
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| Choudhury A, Sharma DK, Marks DL, Pagano RE, ted Endosomal Cholesterol in Niemann-Pick Cells Inhibits Rab4 and Perturbs Membrane Recycling. Mol Biol CellEpub ahead of print:914-8 2004 |
| PubMed ID: 15292453 |
| |
| Sharma DK, Brown JC, Choudhury A, Peterson TE, Holicky E, Marks DL, Simari R, Parton RG, Pagano RE, Selective stimulation of caveolar endocytosis by glycosphingolipids and cholesterol. Mol Biol Cell15(7):3114-22 2004 |
| PubMed ID: 15107466 |
| |
| Greco M, Villani G, Mazzucchelli F, Bresolin N, Papa S, Attardi G, Marked aging-related decline in efficiency of oxidative phosphorylation in human skin fibroblasts The FASEB journal : official publication of the Federation of American Societies for Experimental Biology17:1706-8 2003 |
| PubMed ID: 12958183 |
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| Kwik J, Boyle S, Fooksman D, Margolis L, Sheetz MP, Edidin M, Membrane cholesterol, lateral mobility, and the phosphatidylinositol 4,5-bisphosphate-dependent organization of cell actin. Proc Natl Acad Sci U S A100(24):13964-9 2003 |
| PubMed ID: 14612561 |
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| Sharma DK, Choudhury A, Singh RD, Wheatley CL, Marks DL, Pagano RE, Glycosphingolipids internalized via caveolar-related endocytosis rapidly merge
with the clathrin pathway in early endosomes and form microdomains for
recycling. J Biol Chem278(9):7564-72 2003 |
| PubMed ID: 12482757 |
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| Zhang J, Asin-Cayuela J, Fish J, Michikawa Y, Bonafe M, Olivieri F, Passarino G, De Benedictis G, Franceschi C, Attardi G, Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes. Proc Natl Acad Sci U S A100(3):1116-21 2003 |
| PubMed ID: 12538859 |
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| Choudhury A, Dominguez M, Puri V, Sharma DK, Narita K, Wheatley CL, Marks DL, Pagano RE, Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells. J Clin Invest109(12):1541-50 2002 |
| PubMed ID: 12070301 |
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| Sawkar AR, Cheng WC, Beutler E, Wong CH, Balch WE, Kelly JW, Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a
therapeutic strategy for Gaucher disease. Proc Natl Acad Sci U S A99(24):15428-33 2002 |
| PubMed ID: 12434014 |
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| Desai SD, Li TK, Rodriguez-Bauman A, Rubin EH, Liu LF, Ubiquitin/26S proteasome-mediated degradation of topoisomerase I as a resistance mechanism to camptothecin in tumor cells. Cancer Res61(15):5926-32 2001 |
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