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Items: 1 to 20 of 126

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.

Transcriptional activation of lysosomal exocytosis promotes cellular clearance.

Medina DL, Fraldi A, Bouche V, Annunziata F, Mansueto G, Spampanato C, Puri C, Pignata A, Martina JA, Sardiello M, Palmieri M, Polishchuk R, Puertollano R, Ballabio A.

Dev Cell. 2011 Sep 13;21(3):421-30. doi: 10.1016/j.devcel.2011.07.016. Epub 2011 Sep 1.

3.

Mucolipidosis type IV: an update.

Wakabayashi K, Gustafson AM, Sidransky E, Goldin E.

Mol Genet Metab. 2011 Nov;104(3):206-13. doi: 10.1016/j.ymgme.2011.06.006. Epub 2011 Jun 16. Review.

4.

Clarifying lysosomal storage diseases.

Schultz ML, Tecedor L, Chang M, Davidson BL.

Trends Neurosci. 2011 Aug;34(8):401-10. doi: 10.1016/j.tins.2011.05.006. Epub 2011 Jun 30. Review.

5.

Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.

Zhou S, Davidson C, McGlynn R, Stephney G, Dobrenis K, Vanier MT, Walkley SU.

Am J Pathol. 2011 Aug;179(2):890-902. doi: 10.1016/j.ajpath.2011.04.017. Epub 2011 Jun 2.

6.

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies.

Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D.

Cell. 2011 Jul 8;146(1):37-52. doi: 10.1016/j.cell.2011.06.001. Epub 2011 Jun 23.

7.

TFEB links autophagy to lysosomal biogenesis.

Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A.

Science. 2011 Jun 17;332(6036):1429-33. doi: 10.1126/science.1204592. Epub 2011 May 26.

8.

Role of TRP channels in the regulation of the endosomal pathway.

Abe K, Puertollano R.

Physiology (Bethesda). 2011 Feb;26(1):14-22. doi: 10.1152/physiol.00048.2010. Review.

9.

Sphingolipid storage affects autophagic metabolism of the amyloid precursor protein and promotes Abeta generation.

Tamboli IY, Hampel H, Tien NT, Tolksdorf K, Breiden B, Mathews PM, Saftig P, Sandhoff K, Walter J.

J Neurosci. 2011 Feb 2;31(5):1837-49. doi: 10.1523/JNEUROSCI.2954-10.2011.

10.

Pathology of the first autopsy case diagnosed as mucolipidosis type III α/β suggesting autophagic dysfunction.

Kobayashi H, Takahashi-Fujigasaki J, Fukuda T, Sakurai K, Shimada Y, Nomura K, Ariga M, Ohashi T, Eto Y, Otomo T, Sakai N, Ida H.

Mol Genet Metab. 2011 Feb;102(2):170-5. doi: 10.1016/j.ymgme.2010.09.014. Epub 2010 Nov 3.

PMID:
21051253
11.

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.

Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Medina DL, Spampanato C, Fedele AO, Polishchuk R, Sorrentino NC, Simons K, Ballabio A.

EMBO J. 2010 Nov 3;29(21):3607-20. doi: 10.1038/emboj.2010.237. Epub 2010 Sep 24.

12.

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.

13.

Pathogenic lysosomal depletion in Parkinson's disease.

Dehay B, Bové J, Rodríguez-Muela N, Perier C, Recasens A, Boya P, Vila M.

J Neurosci. 2010 Sep 15;30(37):12535-44. doi: 10.1523/JNEUROSCI.1920-10.2010.

14.

Starch binding domain-containing protein 1/genethonin 1 is a novel participant in glycogen metabolism.

Jiang S, Heller B, Tagliabracci VS, Zhai L, Irimia JM, DePaoli-Roach AA, Wells CD, Skurat AV, Roach PJ.

J Biol Chem. 2010 Nov 5;285(45):34960-71. doi: 10.1074/jbc.M110.150839. Epub 2010 Sep 1. Erratum in: J Biol Chem. 2011 Nov 11;286(45):39673.

15.

PI(3,5)P(2) controls membrane trafficking by direct activation of mucolipin Ca(2+) release channels in the endolysosome.

Dong XP, Shen D, Wang X, Dawson T, Li X, Zhang Q, Cheng X, Zhang Y, Weisman LS, Delling M, Xu H.

Nat Commun. 2010 Jul 13;1:38. doi: 10.1038/ncomms1037.

16.

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.

17.

Heteromultimeric TRPML channel assemblies play a crucial role in the regulation of cell viability models and starvation-induced autophagy.

Zeevi DA, Lev S, Frumkin A, Minke B, Bach G.

J Cell Sci. 2010 Sep 15;123(Pt 18):3112-24. doi: 10.1242/jcs.067330. Epub 2010 Aug 24.

18.

Pathology and current treatment of neurodegenerative sphingolipidoses.

Eckhardt M.

Neuromolecular Med. 2010 Dec;12(4):362-82. doi: 10.1007/s12017-010-8133-7. Epub 2010 Aug 22. Review.

PMID:
20730629
19.

Macroautophagy is defective in mucolipin-1-deficient mouse neurons.

Curcio-Morelli C, Charles FA, Micsenyi MC, Cao Y, Venugopal B, Browning MF, Dobrenis K, Cotman SL, Walkley SU, Slaugenhaupt SA.

Neurobiol Dis. 2010 Nov;40(2):370-7. doi: 10.1016/j.nbd.2010.06.010. Epub 2010 Jun 28.

20.

Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations.

Lee JH, Yu WH, Kumar A, Lee S, Mohan PS, Peterhoff CM, Wolfe DM, Martinez-Vicente M, Massey AC, Sovak G, Uchiyama Y, Westaway D, Cuervo AM, Nixon RA.

Cell. 2010 Jun 25;141(7):1146-58. doi: 10.1016/j.cell.2010.05.008. Epub 2010 Jun 10.

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