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Items: 4

1.
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation
Tatyana Danyukova, Khandsuren Ariunbat, Melanie Thelen, Nahal Brocke-Ahmadinejad, Sara E Mole, Stephan Storch
Hum Mol Genet. 2018 May 15; 27(10): 1711–1722. Published online 2018 Mar 5. doi: 10.1093/hmg/ddy076
PMCID:
PMC5932567
AbstractArticlePDF–710K
2.
Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan
Cara M. Weismann, Jennifer Ferreira, Allison M. Keeler, Qin Su, Linghua Qui, Scott A. Shaffer, Zuoshang Xu, Guangping Gao, Miguel Sena-Esteves
Hum Mol Genet. 2015 Aug 1; 24(15): 4353–4364. Published online 2015 May 10. doi: 10.1093/hmg/ddv168
PMCID:
PMC4492398
AbstractArticlePDF–1002K
3.
Structural Basis of Pharmacological Chaperoning for Human β-Galactosidase
Hironori Suzuki, Umeharu Ohto, Katsumi Higaki, Teresa Mena-Barragán, Matilde Aguilar-Moncayo, Carmen Ortiz Mellet, Eiji Nanba, Jose M. Garcia Fernandez, Yoshiyuki Suzuki, Toshiyuki Shimizu
J Biol Chem. 2014 May 23; 289(21): 14560–14568. Published online 2014 Apr 15. doi: 10.1074/jbc.M113.529529
PMCID:
PMC4031513
AbstractArticlePDF–1.6M
4.
Crystal Structure of Human β-Galactosidase: STRUCTURAL BASIS OF GM1 GANGLIOSIDOSIS AND MORQUIO B DISEASES
Umeharu Ohto, Kimihito Usui, Toshinari Ochi, Kenjiro Yuki, Yoshinori Satow, Toshiyuki Shimizu
J Biol Chem. 2012 Jan 13; 287(3): 1801–1812. Published online 2011 Nov 28. doi: 10.1074/jbc.M111.293795
PMCID:
PMC3265862
AbstractArticlePDF–5.5M

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