Full text in PMC (nucleotide) for Gene (Select 286898) - PMC

Select item 59325671.

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

Select item 58445392.

Niemann-Pick type C2 protein supplementation in experimental non-alcoholic fatty liver disease

Claus Uhrenholt Christensen, Emilie Glavind, Karen Louise Thomsen, Yong Ook Kim, Sara Heebøll, Detlef Schuppan, Stephen Hamilton-Dutoit, Christian Würtz Heegaard, Henning Grønbæk

PLoS One. 2018; 13(3): e0192728. Published online 2018 Mar 9. doi: 10.1371/journal.pone.0192728

PMCID:: PMC5844539

Abstract Article PDF–5.6M

Select item 33621543.

Characterization of the Niemann-Pick C pathway in alveolar type II cells and lamellar bodies of the lung

Blair R. Roszell, Jian-Qin Tao, Kevin J. Yu, Shaohui Huang, Sandra R. Bates

Am J Physiol Lung Cell Mol Physiol. 2012 May 1; 302(9): L919–L932. Published online 2012 Feb 24. doi: 10.1152/ajplung.00383.2011

PMCID:: PMC3362154

Abstract Article

Select item 30207284.

Identification of Neuronal RNA Targets of TDP-43-containing Ribonucleoprotein Complexes

Chantelle F. Sephton, Can Cenik, Alper Kucukural, Eric B. Dammer, Basar Cenik, YuHong Han, Colleen M. Dewey, Frederick P. Roth, Joachim Herz, Junmin Peng, Melissa J. Moore, Gang Yu

J Biol Chem. 2011 Jan 14; 286(2): 1204–1215. Published online 2010 Nov 4. doi: 10.1074/jbc.M110.190884

PMCID:: PMC3020728

Abstract Article PDF–5.5M

Select item 26549155.

Comparison of Gene Expression Profile in Embryonic Mesencephalon and Neuronal Primary Cultures

Dario Greco, Floriana Volpicelli, Antonio Di Lieto, Damiana Leo, Carla Perrone-Capano, Petri Auvinen, Umberto di Porzio

PLoS One. 2009; 4(3): e4977. Published online 2009 Mar 23. doi: 10.1371/journal.pone.0004977

Correction in:: PLoS One. 2009; 4(5): 10.1371/annotation/bb336408-6ec5-480e-ae37-85e9cefe0454.

PMCID:: PMC2654915

Abstract Article PDF–253K

Select item 12743486.

Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

Gilles Millat, Karim Chikh, Saule Naureckiene, David E. Sleat, Anthony H. Fensom, Katsumi Higaki, Milan Elleder, Peter Lobel, Marie T. Vanier

Am J Hum Genet. 2001 Nov; 69(5): 1013–1021. Published online 2001 Sep 20. doi: 10.1086/324068

PMCID:: PMC1274348

Abstract Article PDF–233K

Select item 5402777.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405

PMCID:: PMC540277

Abstract Article PDF–256K

Select item 1392418.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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