GM05659

GM05659 Fibroblast from Skin, Chest

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Male

Age:

1 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Apparently Healthy Collection

Biopsy Source

Chest

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Chest

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Skin biopsy (chest); 46,XY

Characterizations

PDL at Freeze

4.41

Passage Frozen

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

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

Phenotypic Data

Remarks

Skin biopsy (chest); 46,XY

Publications

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

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

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

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

Panagaki T, Pecze L, Randi EB, Nieminen AI, Szabo C, Role of the cystathionine ß-synthase / H Redox biology55:102416 2022

PubMed ID: 35921774

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Passeggio J, Liscum L, Flux of fatty acids through NPC1 lysosomes The Journal of biological chemistry280:10333-9 2005

PubMed ID: 15632139

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

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

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

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

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

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

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

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

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

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

PubMed ID: 11479235

Tang Q, Edidin M, Vesicle trafficking and cell surface membrane patchiness. Biophys J81(1):196-203 2001

PubMed ID: 11423406

Chen CS, Bach G, Pagano RE, Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. Proc Natl Acad Sci U S A95:6373-8 1998

PubMed ID: 9600972

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PubMed ID: 9591645

Ratner JN, Balasubramanian B, Corden J, Warren SL, Bregman DB, Ultraviolet radiation-induced ubiquitination and proteasomal degradation of the large subunit of RNA polymerase II. Implications for transcription-coupled DNA repair. J Biol Chem273(9):5184-9 1998

PubMed ID: 9478972

Villani G, Greco M, Papa S, Attardi G, Low reserve of cytochrome c oxidase capacity in vivo in the respiratory chain of a variety of human cell types. J Biol Chem273:31829-36 1998

PubMed ID: 9822650

Bregman DB, Halaban R, van Gool AJ, Henning KA, Friedberg EC, Warren SL, UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. Proc Natl Acad Sci U S A93:11586-90 1996

PubMed ID: 8876179

Sass C, Giroux LM, Ma Y, Roy M, Lavigne J, Lussier-Cacan S, Davignon J, Minnich A, Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia. Hum Genet96:21-6 1995

PubMed ID: 7607649

Vazquez F, Grider A, The effect of the acrodermatitis enteropathica mutation on zinc uptake in human fibroblasts. Biol Trace Elem Res50:109-17 1995

PubMed ID: 8605078

Ha VT, Marshall MK, Elsas LJ, Pinnell SR, Yeowell HN, A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. J Clin Invest93:1716-21 1994

PubMed ID: 8163671

Yeowell HN, Ha V, Clark WL, Marshall MK, Pinnell SR, Sequence analysis of a cDNA for lysyl hydroxylase isolated from human skin fibroblasts from a normal donor: differences from human placental lysyl hydroxylase cDNA. J Invest Dermatol102:382-4 1994

PubMed ID: 8120423

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