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Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II).

Lagalice L, Pichon J, Gougeon E, Soussi S, Deniaud J, Ledevin M, Maurier V, Leroux I, Durand S, Ciron C, Franzoso F, Dubreil L, Larcher T, Rouger K, Colle MA.

Acta Neuropathol Commun. 2018 Oct 31;6(1):116. doi: 10.1186/s40478-018-0609-y.


Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.

Schaaf GJ, van Gestel TJM, In 't Groen SLM, de Jong B, Boomaars B, Tarallo A, Cardone M, Parenti G, van der Ploeg AT, Pijnappel WWMP.

Acta Neuropathol Commun. 2018 Nov 7;6(1):119. doi: 10.1186/s40478-018-0620-3.


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.


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.


The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.

Khanna R, Powe AC Jr, Lun Y, Soska R, Feng J, Dhulipala R, Frascella M, Garcia A, Pellegrino LJ, Xu S, Brignol N, Toth MJ, Do HV, Lockhart DJ, Wustman BA, Valenzano KJ.

PLoS One. 2014 Jul 18;9(7):e102092. doi: 10.1371/journal.pone.0102092. eCollection 2014.


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.


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.


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.


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.


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.


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.


Autophagy in skeletal muscle: implications for Pompe disease.

Shea L, Raben N.

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


Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.

Schaaf GJ, van Gestel TJ, Brusse E, Verdijk RM, de Coo IF, van Doorn PA, van der Ploeg AT, Pijnappel WW.

Acta Neuropathol Commun. 2015 Oct 28;3:65. doi: 10.1186/s40478-015-0243-x.


Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice.

Sidman RL, Taksir T, Fidler J, Zhao M, Dodge JC, Passini MA, Raben N, Thurberg BL, Cheng SH, Shihabuddin LS.

J Neuropathol Exp Neurol. 2008 Aug;67(8):803-18. doi: 10.1097/NEN.0b013e3181815994.


Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice.

Keeler AM, Liu D, Zieger M, Xiong L, Salemi J, Bellvé K, Byrne BJ, Fuller DD, ZhuGe R, ElMallah MK.

Am J Physiol Lung Cell Mol Physiol. 2017 Jun 1;312(6):L873-L881. doi: 10.1152/ajplung.00568.2016. Epub 2017 Mar 23.


Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.

Fukuda T, Ewan L, Bauer M, Mattaliano RJ, Zaal K, Ralston E, Plotz PH, Raben N.

Ann Neurol. 2006 Apr;59(4):700-8.


Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients.

Nascimbeni AC, Fanin M, Masiero E, Angelini C, Sandri M.

Autophagy. 2012 Nov;8(11):1697-700. doi: 10.4161/auto.21691. Epub 2012 Aug 31.


Glycosylation-independent lysosomal targeting of acid α-glucosidase enhances muscle glycogen clearance in pompe mice.

Maga JA, Zhou J, Kambampati R, Peng S, Wang X, Bohnsack RN, Thomm A, Golata S, Tom P, Dahms NM, Byrne BJ, LeBowitz JH.

J Biol Chem. 2013 Jan 18;288(3):1428-38. doi: 10.1074/jbc.M112.438663. Epub 2012 Nov 27.


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.


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.


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