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Items: 1 to 20 of 136

1.

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.

2.

Autophagy in skeletal muscle: implications for Pompe disease.

Shea L, Raben N.

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

3.

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.

4.

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.

5.

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.

6.

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.

7.

Suppression of mTORC1 activation in acid-α-glucosidase-deficient cells and mice is ameliorated by leucine supplementation.

Shemesh A, Wang Y, Yang Y, Yang GS, Johnson DE, Backer JM, Pessin JE, Zong H.

Am J Physiol Regul Integr Comp Physiol. 2014 Nov 15;307(10):R1251-9. doi: 10.1152/ajpregu.00212.2014. Epub 2014 Sep 17.

8.

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.

PMID:
16874053
9.

Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease.

Lim JA, Li L, Kakhlon O, Myerowitz R, Raben N.

Autophagy. 2015;11(2):385-402. doi: 10.1080/15548627.2015.1009779.

10.

Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease.

Nishiyama Y, Shimada Y, Yokoi T, Kobayashi H, Higuchi T, Eto Y, Ida H, Ohashi T.

Mol Genet Metab. 2012 Nov;107(3):490-5. doi: 10.1016/j.ymgme.2012.09.011. Epub 2012 Sep 15.

PMID:
23041259
11.

Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease.

Nilsson MI, MacNeil LG, Kitaoka Y, Suri R, Young SP, Kaczor JJ, Nates NJ, Ansari MU, Wong T, Ahktar M, Brandt L, Hettinga BP, Tarnopolsky MA.

Free Radic Biol Med. 2015 Oct;87:98-112. doi: 10.1016/j.freeradbiomed.2015.05.019. Epub 2015 May 19.

PMID:
26001726
12.

Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?

Rodríguez-Arribas M, Pedro JM, Gómez-Sánchez R, Yakhine-Diop SM, Martínez-Chacón G, Uribe-Carretero E, De Castro DC, Casado-Naranjo I, López de Munaín A, Niso-Santano M, Fuentes JM, González-Polo RA.

Curr Med Chem. 2016;23(21):2275-85. Review.

PMID:
27237817
13.

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.

14.

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.

PMID:
14567965
15.

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.

16.

Adjunctive β2-agonist treatment reduces glycogen independently of receptor-mediated acid α-glucosidase uptake in the limb muscles of mice with Pompe disease.

Farah BL, Madden L, Li S, Nance S, Bird A, Bursac N, Yen PM, Young SP, Koeberl DD.

FASEB J. 2014 May;28(5):2272-80. doi: 10.1096/fj.13-244202. Epub 2014 Jan 21.

17.

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease.

Bijvoet AG, van de Kamp EH, Kroos MA, Ding JH, Yang BZ, Visser P, Bakker CE, Verbeet MP, Oostra BA, Reuser AJ, van der Ploeg AT.

Hum Mol Genet. 1998 Jan;7(1):53-62.

PMID:
9384603
18.

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.

PMID:
17592248
19.

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.

20.

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.

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