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1.

Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease.

Lee, Jean-Pyo; Jeyakumar, Mylvaganam; Gonzalez, Rodolfo; Takahashi, Hiroto; Lee, Pei-Jen; Baek, Rena C; Clark, Dan; Rose, Heather; Fu, Gerald; Clarke, Jonathan; McKercher, Scott; Meerloo, Jennifer; Muller, Franz-Josef; Park, Kook In; Butters, Terry D; Dwek, Raymond A; Schwartz, Philip; Tong, Gang; Wenger, David; Lipton, Stuart A; Seyfried, Thomas N; Platt, Frances M; Snyder, Evan Y.

Nat Med; 13(4): 439-47, 2007 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-17351625

2.

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1.

Chen, Oscar C W; Siebel, Stephan; Colaco, Alexandria; Nicoli, Elena-Raluca; Platt, Nick; Shepherd, Dawn; Newman, Stephanie; Armitage, Andrew E; Farhat, Nicole Y; Seligmann, George; Smith, Claire; Smith, David A; Abdul-Sada, Alaa; Jeyakumar, Mylvaganam; Drakesmith, Hal; Porter, Forbes D; Platt, Frances M.

Wellcome Open Res; 7: 267, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-37065726

3.

Neural stem cell transplantation benefits a monogenic neurometabolic disorder during the symptomatic phase of disease.

Jeyakumar, Mylvaganam; Lee, Jean-Pyo; Sibson, Nicola R; Lowe, John P; Stuckey, Daniel J; Tester, Katie; Fu, Gerald; Newlin, Robin; Smith, David A; Snyder, Evan Y; Platt, Frances M.

Stem Cells; 27(9): 2362-70, 2009 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-19591217

4.

Critical role of iron in the pathogenesis of the murine gangliosidoses.

Jeyakumar, Mylvaganam; Williams, Ian; Smith, David; Cox, Timothy M; Platt, Frances M.

Neurobiol Dis; 34(3): 406-16, 2009 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-19449457

5.

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1.

Smith, David; Wallom, Kerri-Lee; Williams, Ian M; Jeyakumar, Mylvaganam; Platt, Frances M.

Neurobiol Dis; 36(2): 242-51, 2009 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-19632328

6.

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis.

Elliot-Smith, Elena; Speak, Anneliese O; Lloyd-Evans, Emyr; Smith, David A; van der Spoel, Aarnoud C; Jeyakumar, Mylvaganam; Butters, Terry D; Dwek, Raymond A; d'Azzo, Alessandra; Platt, Frances M.

Mol Genet Metab; 94(2): 204-11, 2008 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-18387328

7.

Substrate reduction therapy.

Platt, Frances M; Jeyakumar, Mylvaganam.

Acta Paediatr; 97(457): 88-93, 2008 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-18339196

8.

Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease.

Bradbury, Allison M; Gray-Edwards, Heather L; Shirley, Jamie L; McCurdy, Victoria J; Colaco, Alexandria N; Randle, Ashley N; Christopherson, Pete W; Bird, Allison C; Johnson, Aime K; Wilson, Diane U; Hudson, Judith A; De Pompa, Nicholas L; Sorjonen, Donald C; Brunson, Brandon L; Jeyakumar, Mylvaganam; Platt, Frances M; Baker, Henry J; Cox, Nancy R; Sena-Esteves, Miguel; Martin, Douglas R.

Exp Neurol; 263: 102-12, 2015 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-25284324

9.

Directed differentiation of embryonic stem cells using a bead-based combinatorial screening method.

Tarunina, Marina; Hernandez, Diana; Johnson, Christopher J; Rybtsov, Stanislav; Ramathas, Vidya; Jeyakumar, Mylvaganam; Watson, Thomas; Hook, Lilian; Medvinsky, Alexander; Mason, Chris; Choo, Yen.

PLoS One; 9(9): e104301, 2014.

Artículo en Inglés | MEDLINE | ID: mdl-25251366

10.

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.

te Vruchte, Danielle; Speak, Anneliese O; Wallom, Kerri L; Al Eisa, Nada; Smith, David A; Hendriksz, Christian J; Simmons, Louise; Lachmann, Robin H; Cousins, Alison; Hartung, Ralf; Mengel, Eugen; Runz, Heiko; Beck, Michael; Amraoui, Yasmina; Imrie, Jackie; Jacklin, Elizabeth; Riddick, Kate; Yanjanin, Nicole M; Wassif, Christopher A; Rolfs, Arndt; Rimmele, Florian; Wright, Naomi; Taylor, Clare; Ramaswami, Uma; Cox, Timothy M; Hastings, Caroline; Jiang, Xuntian; Sidhu, Rohini; Ory, Daniel S; Arias, Begona; Jeyakumar, Mylvaganam; Sillence, Daniel J; Wraith, James E; Porter, Forbes D; Cortina-Borja, Mario; Platt, Frances M.

J Clin Invest; 124(3): 1320-8, 2014 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-24487591

11.

New developments in treating glycosphingolipid storage diseases.

Platt, Frances M; Jeyakumar, Mylvaganam; Andersson, Ulrika; Dwek, Raymond A; Butters, Terry D.

Adv Exp Med Biol; 564: 117-26, 2005.

Artículo en Inglés | MEDLINE | ID: mdl-16400817

12.

Storage solutions: treating lysosomal disorders of the brain.

Jeyakumar, Mylvaganam; Dwek, Raymond A; Butters, Terry D; Platt, Frances M.

Nat Rev Neurosci; 6(9): 713-25, 2005 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-16049428

13.

Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin.

Pelled, Dori; Lloyd-Evans, Emyr; Riebeling, Christian; Jeyakumar, Mylvaganam; Platt, Frances M; Futerman, Anthony H.

J Biol Chem; 278(32): 29496-501, 2003 Aug 08.

Artículo en Inglés | MEDLINE | ID: mdl-12756243

14.

Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease.

Andersson, Ulrika; Smith, David; Jeyakumar, Mylvaganam; Butters, Terry D; Borja, Mario Cortina; Dwek, Raymond A; Platt, Frances M.

Neurobiol Dis; 16(3): 506-15, 2004 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-15262262

15.

Substrate reduction therapy in mouse models of the glycosphingolipidoses.

Platt, Frances M; Jeyakumar, Mylvaganam; Andersson, Ulrika; Heare, Tanya; Dwek, Raymond A; Butters, Terry D.

Philos Trans R Soc Lond B Biol Sci; 358(1433): 947-54, 2003 May 29.

Artículo en Inglés | MEDLINE | ID: mdl-12803928

16.

NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin.

Jeyakumar, Mylvaganam; Smith, David A; Williams, Ian M; Borja, Mario Cortina; Neville, David C A; Butters, Terry D; Dwek, Raymond A; Platt, Frances M.

Ann Neurol; 56(5): 642-9, 2004 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-15505823

17.

Reversible infertility in male mice after oral administration of alkylated imino sugars: a nonhormonal approach to male contraception.

van der Spoel, Aarnoud C; Jeyakumar, Mylvaganam; Butters, Terry D; Charlton, Harry M; Moore, Harry D; Dwek, Raymond A; Platt, Frances M.

Proc Natl Acad Sci U S A; 99(26): 17173-8, 2002 Dec 24.

Artículo en Inglés | MEDLINE | ID: mdl-12477936

18.

An inducible mouse model of late onset Tay-Sachs disease.

Jeyakumar, Mylvaganam; Smith, David; Eliott-Smith, Elena; Cortina-Borja, Mario; Reinkensmeier, Gabriele; Butters, Terry D; Lemm, Thorsten; Sandhoff, Konrad; Perry, V Hugh; Dwek, Raymond A; Platt, Frances M.

Neurobiol Dis; 10(3): 201-10, 2002 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-12270683

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