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Select item 52093811.

Knockout of Lysosomal Enzyme-Targeting Gene Causes Abnormalities in Mouse Pup Isolation Calls

Terra D. Barnes, Timothy E. Holy

Front Behav Neurosci. 2016; 10: 237. Published online 2017 Jan 4. doi: 10.3389/fnbeh.2016.00237

PMCID:: PMC5209381

Abstract Article PDF–1.8M

Select item 50636652.

A mutation associated with stuttering alters mouse pup ultrasonic vocalizations

Terra D. Barnes, David Wozniak, Joanne Gutierrez, Tae-Un Han, Dennis Drayna, Timothy E. Holy

Curr Biol. Author manuscript; available in PMC 2017 Oct 13.

Published before final editing as: Curr Biol. 2016 Apr 13 : S0960-9822(16)30179-8 10.1016/j.cub.2016.02.068. Published online 2016 Apr 13. doi: 10.1016/j.cub.2016.02.068

PMCID:: PMC5063665

Abstract Article PDF–1.1M

Select item 42986823.

Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions

Takanobu Otomo, Michaela Schweizer, Katrin Kollmann, Valéa Schumacher, Nicole Muschol, Eva Tolosa, Hans-Willi Mittrücker, Thomas Braulke

J Cell Biol. 2015 Jan 19; 208(2): 171–180. doi: 10.1083/jcb.201407077

PMCID:: PMC4298682

Abstract Article PDF–2.2M

Select item 39145244.

Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II

Katrin Kollmann, Jan Malte Pestka, Sonja Christin Kühn, Elisabeth Schöne, Michaela Schweizer, Kathrin Karkmann, Takanobu Otomo, Philip Catala-Lehnen, Antonio Virgilio Failla, Robert Percy Marshall, Matthias Krause, Rene Santer, Michael Amling, Thomas Braulke, Thorsten Schinke

EMBO Mol Med. 2013 Dec; 5(12): 1871–1886. Published online 2013 Oct 15. doi: 10.1002/emmm.201302979

PMCID:: PMC3914524

Abstract Article PDF–1.6M

Select item 34370335.

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II ‘knock-in’ mice

K. Kollmann, M. Damme, S. Markmann, W. Morelle, M. Schweizer, I. Hermans-Borgmeyer, A. K. Röchert, S. Pohl, T. Lübke, J.-C. Michalski, R. Käkelä, S. U. Walkley, T. Braulke

Brain. 2012 Sep; 135(9): 2661–2675. Published online 2012 Aug 29. doi: 10.1093/brain/aws209

PMCID:: PMC3437033

Abstract Article PDF–1.7M

Select item 30780716.

Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes

Marielle Boonen, Eline van Meel, Viola Oorschot, Judith Klumperman, Stuart Kornfeld

Mol Biol Cell. 2011 Apr 15; 22(8): 1135–1147. doi: 10.1091/mbc.E10-07-0584

PMCID:: PMC3078071

Abstract Article PDF–3.9M

Select item 28936677.

A Novel Single-Chain Antibody Fragment for Detection of Mannose 6-Phosphate-Containing Proteins : Application in Mucolipidosis Type II Patients and Mice

Sven Müller-Loennies, Giovanna Galliciotti, Katrin Kollmann, Markus Glatzel, Thomas Braulke

Am J Pathol. 2010 Jul; 177(1): 240–247. doi: 10.2353/ajpath.2010.090954

PMCID:: PMC2893667

Abstract Article PDF–550K

Select item 78788738.

Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice

Lena Marie Westermann, Anke Baranowsky, Giorgia Di Lorenzo, Tatyana Danyukova, Jamie Soul, Jean-Marc Schwartz, Gretl Hendrickx, Michael Amling, Stefan Rose-John, Christoph Garbers, Thorsten Schinke, Sandra Pohl

Sci Rep. 2021; 11: 3556. Published online 2021 Feb 11. doi: 10.1038/s41598-021-82802-3

PMCID:: PMC7878873

Abstract Article PDF–4.1M

Select item 76878589.

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel, Zsuzsa Jenei-Lanzl, Nataniel Floriano Ludwig, Lynn Schau, Fabio Morellini, Anke Baranowsky, Timur A. Yorgan, Giorgia Di Lorenzo, Michaela Schweizer, Bruna de Souza Pinheiro, Nicole Ruas Guarany, Fernanda Sperb-Ludwig, Fernanda Visioli, Thiago Oliveira Silva, Jamie Soul, Gretl Hendrickx, J. Simon Wiegert, Ida V. D. Schwartz, Hauke Clausen-Schaumann, Frank Zaucke, Thorsten Schinke, Sandra Pohl, Tatyana Danyukova

Dis Model Mech. 2020 Nov 1; 13(11): dmm046425. Published online 2020 Nov 18. doi: 10.1242/dmm.046425

PMCID:: PMC7687858

Abstract Article

Select item 671728210.

Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum

Tae-Un Han, Jessica Root, Laura D. Reyes, Elizabeth B. Huchinson, Johann du Hoffmann, Wang-Sik Lee, Terra D. Barnes, Dennis Drayna

Proc Natl Acad Sci U S A. 2019 Aug 27; 116(35): 17515–17524. Published online 2019 Aug 12. doi: 10.1073/pnas.1901480116

PMCID:: PMC6717282

Abstract Article PDF–2.0M

Select item 588162711.

Regenerative proliferation of differentiated cells by mTORC1‐dependent paligenosis

Spencer G Willet, Mark A Lewis, Zhi‐Feng Miao, Dengqun Liu, Megan D Radyk, Rebecca L Cunningham, Joseph Burclaff, Greg Sibbel, Hei‐Yong G Lo, Valerie Blanc, Nicholas O Davidson, Zhen‐Ning Wang, Jason C Mills

EMBO J. 2018 Apr 3; 37(7): e98311. Published online 2018 Feb 21. doi: 10.15252/embj.201798311

PMCID:: PMC5881627

Abstract Article PDF–3.2M

Select item 419694112.

Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ

Rachel A. Idol, David F. Wozniak, Hideji Fujiwara, Carla M. Yuede, Daniel S. Ory, Stuart Kornfeld, Peter Vogel

PLoS One. 2014; 9(10): e109768. Published online 2014 Oct 14. doi: 10.1371/journal.pone.0109768

Correction in:: PLoS One. 2014; 9(11): e114199.

PMCID:: PMC4196941

Abstract Article PDF–17M

Select item 417531413.

A Novel Mouse Model of a Patient Mucolipidosis II Mutation Recapitulates Disease Pathology

Leigh Paton, Emmanuelle Bitoun, Janet Kenyon, David A. Priestman, Peter L. Oliver, Benjamin Edwards, Frances M. Platt, Kay E. Davies

J Biol Chem. 2014 Sep 26; 289(39): 26709–26721. Published online 2014 Aug 8. doi: 10.1074/jbc.M114.586156

PMCID:: PMC4175314

Abstract Article PDF–3.5M

Select item 270519114.

Comparative Pathology of Murine Mucolipidosis Types II and IIIC

P. Vogel, B. J. Payne, R. Read, W.-S. Lee, C. M. Gelfman, S. Kornfeld

Vet Pathol. Author manuscript; available in PMC 2010 Mar 1.

Published in final edited form as: Vet Pathol. 2009 Mar; 46(2): 313–324. doi: 10.1354/vp.46-2-313

PMCID:: PMC2705191

Abstract Article PDF–7.1M

Select item 832157315.

Dysregulation of mannose-6-phosphate–dependent cholesterol homeostasis in acinar cells mediates pancreatitis

Olga A. Mareninova, Eszter T. Vegh, Natalia Shalbueva, Carli J.M. Wightman, Dustin L. Dillon, Sudarshan Malla, Yan Xie, Toshimasa Takahashi, Zoltan Rakonczay, Jr., Samuel W. French, Herbert Y. Gaisano, Fred S. Gorelick, Stephen J. Pandol, Steven J. Bensinger, Nicholas O. Davidson, David W. Dawson, Ilya Gukovsky, Anna S. Gukovskaya

J Clin Invest. 2021 Aug 2; 131(15): e146870. Published online 2021 Aug 2. doi: 10.1172/JCI146870