Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 146


Autophagy and lysosomes in Pompe disease.

Fukuda T, Roberts A, Ahearn M, Zaal K, Ralston E, Plotz PH, Raben N.

Autophagy. 2006 Oct-Dec;2(4):318-20. Epub 2006 Oct 5.


Role of autophagy in the pathogenesis of Pompe disease.

Raben N, Roberts A, Plotz PH.

Acta Myol. 2007 Jul;26(1):45-8. Review.


Autophagy in skeletal muscle: implications for Pompe disease.

Shea L, Raben N.

Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S42-7. Review.


Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches.

Takikita S, Myerowitz R, Zaal K, Raben N, Plotz PH.

Mol Genet Metab. 2009 Apr;96(4):208-17. doi: 10.1016/j.ymgme.2008.12.012. Epub 2009 Jan 22.


Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease.

Fukuda T, Ahearn M, Roberts A, Mattaliano RJ, Zaal K, Ralston E, Plotz PH, Raben N.

Mol Ther. 2006 Dec;14(6):831-9. Epub 2006 Sep 27.


Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease.

Raben N, Hill V, Shea L, Takikita S, Baum R, Mizushima N, Ralston E, Plotz P.

Hum Mol Genet. 2008 Dec 15;17(24):3897-908. doi: 10.1093/hmg/ddn292. Epub 2008 Sep 9.


When more is less: excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease.

Raben N, Baum R, Schreiner C, Takikita S, Mizushima N, Ralston E, Plotz P.

Autophagy. 2009 Jan;5(1):111-3. Epub 2009 Jan 30.


Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

Raben N, Fukuda T, Gilbert AL, de Jong D, Thurberg BL, Mattaliano RJ, Meikle P, Hopwood JJ, Nagashima K, Nagaraju K, Plotz PH.

Mol Ther. 2005 Jan;11(1):48-56.


Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.

Douillard-Guilloux G, Raben N, Takikita S, Ferry A, Vignaud A, Guillet-Deniau I, Favier M, Thurberg BL, Roach PJ, Caillaud C, Richard E.

Hum Mol Genet. 2010 Feb 15;19(4):684-96. doi: 10.1093/hmg/ddp535. Epub 2009 Dec 3.


Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...

Raben N, Takikita S, Pittis MG, Bembi B, Marie SK, Roberts A, Page L, Kishnani PS, Schoser BG, Chien YH, Ralston E, Nagaraju K, Plotz PH.

Autophagy. 2007 Nov-Dec;3(6):546-52. Epub 2007 Jun 15.


Enzyme replacement therapy in the mouse model of Pompe disease.

Raben N, Danon M, Gilbert AL, Dwivedi S, Collins B, Thurberg BL, Mattaliano RJ, Nagaraju K, Plotz PH.

Mol Genet Metab. 2003 Sep-Oct;80(1-2):159-69.


Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy.

Raben N, Ralston E, Chien YH, Baum R, Schreiner C, Hwu WL, Zaal KJ, Plotz PH.

Mol Genet Metab. 2010 Dec;101(4):324-31. doi: 10.1016/j.ymgme.2010.08.001. Epub 2010 Aug 7.


Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten.

Raben N, Wong A, Ralston E, Myerowitz R.

Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):13-21. doi: 10.1002/ajmg.c.31317. Epub 2012 Jan 17. Review.


Acid alpha-glucosidase deficiency (Pompe disease).

Fukuda T, Roberts A, Plotz PH, Raben N.

Curr Neurol Neurosci Rep. 2007 Jan;7(1):71-7. Review.


Fiber type conversion by PGC-1α activates lysosomal and autophagosomal biogenesis in both unaffected and Pompe skeletal muscle.

Takikita S, Schreiner C, Baum R, Xie T, Ralston E, Plotz PH, Raben N.

PLoS One. 2010 Dec 13;5(12):e15239. doi: 10.1371/journal.pone.0015239.


Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease.

Spampanato C, Feeney E, Li L, Cardone M, Lim JA, Annunziata F, Zare H, Polishchuk R, Puertollano R, Parenti G, Ballabio A, Raben N.

EMBO Mol Med. 2013 May;5(5):691-706. doi: 10.1002/emmm.201202176. Epub 2013 Apr 18.


Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT.

Pediatrics. 2004 May;113(5):e448-57.


Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease.

Raben N, Schreiner C, Baum R, Takikita S, Xu S, Xie T, Myerowitz R, Komatsu M, Van der Meulen JH, Nagaraju K, Ralston E, Plotz PH.

Autophagy. 2010 Nov;6(8):1078-89. doi: 10.4161/auto.6.8.13378.


Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

Prater SN, Patel TT, Buckley AF, Mandel H, Vlodavski E, Banugaria SG, Feeney EJ, Raben N, Kishnani PS.

Orphanet J Rare Dis. 2013 Jun 20;8:90. doi: 10.1186/1750-1172-8-90.


The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

Feeney EJ, Austin S, Chien YH, Mandel H, Schoser B, Prater S, Hwu WL, Ralston E, Kishnani PS, Raben N.

Acta Neuropathol Commun. 2014 Jan 2;2:2. doi: 10.1186/2051-5960-2-2.

Supplemental Content

Support Center