Literature DB >> 18688960

The function of CLN3P, the Batten disease protein.

Dinesh Rakheja1, Srinivas B Narayan, Michael J Bennett.   

Abstract

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Year:  2008        PMID： 18688960     DOI： 10.1016/j.ymgme.2008.01.001

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  14 in total

1.  Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).

Authors:  Fred K Chen; Xiao Zhang; Jonathan Eintracht; Dan Zhang; Sukanya Arunachalam; Jennifer A Thompson; Enid Chelva; Dominic Mallon; Shang-Chih Chen; Terri McLaren; Tina Lamey; John De Roach; Samuel McLenachan
Journal:  Doc Ophthalmol       Date:  2018-11-16       Impact factor: 2.379

2.  Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease.

Authors:  Young Joon Kwon; Marni J Falk; Michael J Bennett
Journal:  J Inherit Metab Dis       Date:  2016-10-20       Impact factor: 4.982

3.  Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers.

Authors:  Kristina An Haack; Srinivas B Narayan; Haying Li; Ashley Warnock; Lu Tan; Michael J Bennett
Journal:  Biochim Biophys Acta       Date:  2010-10-07

4.  An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

Authors:  Céline Pebrel-Richard; Anne Debost-Legrand; Eléonore Eymard-Pierre; Victoria Greze; Stéphan Kemeny; Mathilde Gay-Bellile; Laetitia Gouas; Andreï Tchirkov; Philippe Vago; Carole Goumy; Christine Francannet
Journal:  Eur J Hum Genet       Date:  2013-07-17       Impact factor: 4.246

Review 5.  Pathogenic cascades in lysosomal disease-Why so complex?

Authors:  S U Walkley
Journal:  J Inherit Metab Dis       Date:  2009-01-07       Impact factor: 4.982

Review 6.  Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs).

Authors:  Nihar Kinarivala; Paul C Trippier
Journal:  J Med Chem       Date:  2015-11-24       Impact factor: 7.446

7.  Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene.

Authors:  Dolan Sondhi; Emma C Scott; Alvin Chen; Neil R Hackett; Andrew M S Wong; Agnieszka Kubiak; Hemanth R Nelvagal; Yewande Pearse; Susan L Cotman; Jonathan D Cooper; Ronald G Crystal
Journal:  Hum Gene Ther       Date:  2014-03-04       Impact factor: 5.695

8.  Btn3 is a negative regulator of Btn2-mediated endosomal protein trafficking and prion curing in yeast.

Authors:  Vydehi Kanneganti; Rachel Kama; Jeffrey E Gerst
Journal:  Mol Biol Cell       Date:  2011-03-25       Impact factor: 4.138

9.  The Batten disease gene CLN3 is required for the response to oxidative stress.

Authors:  Richard I Tuxworth; Haiyang Chen; Valerie Vivancos; Nancy Carvajal; Xun Huang; Guy Tear
Journal:  Hum Mol Genet       Date:  2011-03-03       Impact factor: 6.150

10.  The yeast Batten disease orthologue Btn1 controls endosome-Golgi retrograde transport via SNARE assembly.

Authors:  Rachel Kama; Vydehi Kanneganti; Christian Ungermann; Jeffrey E Gerst
Journal:  J Cell Biol       Date:  2011-10-10       Impact factor: 10.539
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