PMC Links for Nucleotide (Select 1406928057) - PMC

Select item 59939391.

Prevention of Photoreceptor Cell Loss in a Cln6^nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells

Sophia-Martha kleine Holthaus, Joana Ribeiro, Laura Abelleira-Hervas, Rachael A. Pearson, Yanai Duran, Anastasios Georgiadis, Robert D. Sampson, Matteo Rizzi, Justin Hoke, Ryea Maswood, Selina Azam, Ulrich F.O. Luhmann, Alexander J. Smith, Sara E. Mole, Robin R. Ali

Mol Ther. 2018 May 2; 26(5): 1343–1353. Published online 2018 Mar 2. doi: 10.1016/j.ymthe.2018.02.027

PMCID:: PMC5993939

Abstract Article PDF–3.5M

Select item 44390902.

Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis

Wanda Jankowiak, Katharina Kruszewski, Kai Flachsbarth, Christos Skevas, Gisbert Richard, Klaus Rüther, Thomas Braulke, Udo Bartsch

PLoS One. 2015; 10(5): e0127204. Published online 2015 May 20. doi: 10.1371/journal.pone.0127204

PMCID:: PMC4439090

Abstract Article PDF–6.6M

Select item 3849273.

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein

Ruth B. Wheeler, Julie D. Sharp, Roger A. Schultz, John M. Joslin, Ruth E. Williams, Sara E. Mole

Am J Hum Genet. 2002 Feb; 70(2): 537–542. Published online 2001 Nov 27. doi: 10.1086/338708

PMCID:: PMC384927

Abstract Article PDF–389K

Select item 3849124.

Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse

Hanlin Gao, Rose-Mary N. Boustany, Janice A. Espinola, Susan L. Cotman, Lakshmi Srinidhi, Kristen Auger Antonellis, Tammy Gillis, Xuebin Qin, Shumei Liu, Leah R. Donahue, Roderick T. Bronson, Jerry R. Faust, Derek Stout, Jonathan L. Haines, Terry J. Lerner, Marcy E. MacDonald

Am J Hum Genet. 2002 Feb; 70(2): 324–335. Published online 2001 Dec 21. doi: 10.1086/338190

PMCID:: PMC384912

Abstract Article PDF–797K

Select item 33350055.

Disruption of the Autophagy-Lysosome Pathway Is Involved in Neuropathology of the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis

Melanie Thelen, Markus Daμμe, Michaela Schweizer, Christian Hagel, Andrew M.S. Wong, Jonathan D. Cooper, Thomas Braulke, Giovanna Galliciotti

PLoS One. 2012; 7(4): e35493. Published online 2012 Apr 20. doi: 10.1371/journal.pone.0035493

Correction in:: PLoS One. 2012; 7(5): 10.1371/annotation/a4b06d46-8eb9-4d15-a15a-41bf4b5ccb8b.

PMCID:: PMC3335005

Abstract Article PDF–3.1M

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