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Items: 1 to 20 of 95

1.

Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice.

Tanaka Y, Guhde G, Suter A, Eskelinen EL, Hartmann D, Lüllmann-Rauch R, Janssen PM, Blanz J, von Figura K, Saftig P.

Nature. 2000 Aug 24;406(6798):902-6.

PMID:
10972293
2.

Disease model: LAMP-2 enlightens Danon disease.

Saftig P, Tanaka Y, Lüllmann-Rauch R, von Figura K.

Trends Mol Med. 2001 Jan;7(1):37-9. Review.

PMID:
11427988
3.

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M.

Nature. 2000 Aug 24;406(6798):906-10.

PMID:
10972294
4.

Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.

Lacoste-Collin L, Garcia V, Uro-Coste E, Arné-Bes MC, Durand D, Levade T, Delisle MB.

Neuromuscul Disord. 2002 Nov;12(9):882-5.

PMID:
12398843
5.

Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy.

Eskelinen EL.

Mol Aspects Med. 2006 Oct-Dec;27(5-6):495-502. Epub 2006 Sep 14. Review.

PMID:
16973206
6.

Clinicopathological features of genetically confirmed Danon disease.

Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I.

Neurology. 2002 Jun 25;58(12):1773-8. Review.

PMID:
12084876
7.

Infantile autophagic vacuolar myopathy is distinct from Danon disease.

Yamamoto A, Morisawa Y, Verloes A, Murakami N, Hirano M, Nonaka I, Nishino I.

Neurology. 2001 Sep 11;57(5):903-5.

PMID:
11552028
8.

Normal lysosomal morphology and function in LAMP-1-deficient mice.

Andrejewski N, Punnonen EL, Guhde G, Tanaka Y, Lüllmann-Rauch R, Hartmann D, von Figura K, Saftig P.

J Biol Chem. 1999 Apr 30;274(18):12692-701.

9.

Lysosomal biogenesis in lysosomal storage disorders.

Karageorgos LE, Isaac EL, Brooks DA, Ravenscroft EM, Davey R, Hopwood JJ, Meikle PJ.

Exp Cell Res. 1997 Jul 10;234(1):85-97.

PMID:
9223373
10.

LAMP-2 deficient mice show depressed cardiac contractile function without significant changes in calcium handling.

Stypmann J, Janssen PM, Prestle J, Engelen MA, Kögler H, Lüllmann-Rauch R, Eckardt L, von Figura K, Landgrebe J, Mleczko A, Saftig P.

Basic Res Cardiol. 2006 Jul;101(4):281-91. Epub 2006 Apr 8.

PMID:
16604439
11.

Role of LAMP-2 in lysosome biogenesis and autophagy.

Eskelinen EL, Illert AL, Tanaka Y, Schwarzmann G, Blanz J, Von Figura K, Saftig P.

Mol Biol Cell. 2002 Sep;13(9):3355-68.

12.

Expression of the lysosome-associated membrane proteins in myopathies with rimmed vacuoles.

Tsuruta Y, Furuta A, Furuta K, Yamada T, Kira J, Iwaki T.

Acta Neuropathol. 2001 Jun;101(6):579-84.

PMID:
11515786
13.

Distribution and subcellular localization of a lysosome-associated protein in human genital organs.

Aumüller G, Renneberg H, Hasilik A.

Cell Tissue Res. 1997 Feb;287(2):335-42.

PMID:
8995204
14.

At the acidic edge: emerging functions for lysosomal membrane proteins.

Eskelinen EL, Tanaka Y, Saftig P.

Trends Cell Biol. 2003 Mar;13(3):137-45. Review.

PMID:
12628346
15.

Autophagic vacuolar myopathy in twin girls.

Holton JL, Beesley C, Jackson M, Venner K, Bhardwaj N, Winchester B, Al-Memar A.

Neuropathol Appl Neurobiol. 2006 Jun;32(3):253-9.

PMID:
16640643
16.

Autophagic vacuolar myopathy.

Nishino I.

Semin Pediatr Neurol. 2006 Jun;13(2):90-5. Review.

PMID:
17027858
17.

Regulation of the lysosome-associated membrane protein in a sucrose model of lysosomal storage.

Isaac EL, Karageorgos LE, Brooks DA, Hopwood JJ, Meikle PJ.

Exp Cell Res. 2000 Feb 1;254(2):204-9.

PMID:
10640418
18.

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
19.

Disturbed cholesterol traffic but normal proteolytic function in LAMP-1/LAMP-2 double-deficient fibroblasts.

Eskelinen EL, Schmidt CK, Neu S, Willenborg M, Fuertes G, Salvador N, Tanaka Y, Lüllmann-Rauch R, Hartmann D, Heeren J, von Figura K, Knecht E, Saftig P.

Mol Biol Cell. 2004 Jul;15(7):3132-45. Epub 2004 Apr 30.

20.

An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.

Kepron C, Blumenthal A, Chitayat D, Cutz E, Superti-Furga A, Keating S.

Pediatr Dev Pathol. 2009 Jan-Feb;12(1):53-8. doi: 10.2350/07-11-03670.1.

PMID:
19243213

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