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Items: 1 to 20 of 159

1.

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C.

PLoS One. 2011;6(11):e26741. doi: 10.1371/journal.pone.0026741. Epub 2011 Nov 4.

2.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S.

Am J Hum Genet. 2011 Aug 12;89(2):241-52. doi: 10.1016/j.ajhg.2011.07.003. Epub 2011 Aug 4. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589.

3.

Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.

Greaves J, Lemonidis K, Gorleku OA, Cruchaga C, Grefen C, Chamberlain LH.

J Biol Chem. 2012 Oct 26;287(44):37330-9. doi: 10.1074/jbc.M112.389098. Epub 2012 Aug 19.

4.

Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.

Henderson MX, Wirak GS, Zhang YQ, Dai F, Ginsberg SD, Dolzhanskaya N, Staropoli JF, Nijssen PC, Lam TT, Roth AF, Davis NG, Dawson G, Velinov M, Chandra SS.

Acta Neuropathol. 2016 Apr;131(4):621-37. doi: 10.1007/s00401-015-1512-2. Epub 2015 Dec 10.

5.

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

Cadieux-Dion M, Andermann E, Lachance-Touchette P, Ansorge O, Meloche C, Barnabé A, Kuzniecky RI, Andermann F, Faught E, Leonberg S, Damiano JA, Berkovic SF, Rouleau GA, Cossette P.

Clin Genet. 2013 Jun;83(6):571-5. doi: 10.1111/cge.12020. Epub 2012 Nov 7.

PMID:
22978711
6.

Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.

Benitez BA, Cairns NJ, Schmidt RE, Morris JC, Norton JB, Cruchaga C, Sands MS.

Acta Neuropathol Commun. 2015 Nov 26;3:73. doi: 10.1186/s40478-015-0256-5.

7.

Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis.

Donnelier J, Braun ST, Dolzhanskaya N, Ahrendt E, Braun AP, Velinov M, Braun JE.

PLoS One. 2015 Apr 23;10(4):e0125205. doi: 10.1371/journal.pone.0125205. eCollection 2015.

8.

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S.

PLoS One. 2012;7(1):e29729. doi: 10.1371/journal.pone.0029729. Epub 2012 Jan 3. Erratum in: PLoS One. 2012;7(9). doi:10.1371/annotation/26d7eb64-ccd2-41db-b1aa-7cdc8c1eff95.

9.

A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.

Diez-Ardanuy C, Greaves J, Munro KR, Tomkinson NC, Chamberlain LH.

Sci Rep. 2017 Dec;7(1):10. doi: 10.1038/s41598-017-00036-8. Epub 2017 Jan 31.

10.

Oligomerization of Cysteine String Protein alpha mutants causing adult neuronal ceroid lipofuscinosis.

Zhang YQ, Chandra SS.

Biochim Biophys Acta. 2014 Nov;1842(11):2136-46. doi: 10.1016/j.bbadis.2014.07.009. Epub 2014 Jul 23.

11.

Caenorhabditis elegans dnj-14, the orthologue of the DNAJC5 gene mutated in adult onset neuronal ceroid lipofuscinosis, provides a new platform for neuroprotective drug screening and identifies a SIR-2.1-independent action of resveratrol.

Kashyap SS, Johnson JR, McCue HV, Chen X, Edmonds MJ, Ayala M, Graham ME, Jenn RC, Barclay JW, Burgoyne RD, Morgan A.

Hum Mol Genet. 2014 Nov 15;23(22):5916-27. doi: 10.1093/hmg/ddu316. Epub 2014 Jun 19.

12.

Gene Therapy of Adult Neuronal Ceroid Lipofuscinoses with CRISPR/Cas9 in Zebrafish.

Yao X, Liu X, Zhang Y, Li Y, Zhao C, Yao S, Wei YQ Chairman And Profess.

Hum Gene Ther. 2017 May 6. doi: 10.1089/hum.2016.190. [Epub ahead of print]

PMID:
28478735
13.

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ.

Hum Mol Genet. 2012 Jun 15;21(12):2646-50. doi: 10.1093/hmg/dds089. Epub 2012 Mar 2.

14.
15.

Cysteine-string protein isoform beta (Cspbeta) is targeted to the trans-Golgi network as a non-palmitoylated CSP in clonal beta-cells.

Boal F, Le Pevelen S, Cziepluch C, Scotti P, Lang J.

Biochim Biophys Acta. 2007 Feb;1773(2):109-19. Epub 2006 Sep 14.

16.

Cysteine string protein (CSP) and its role in preventing neurodegeneration.

Burgoyne RD, Morgan A.

Semin Cell Dev Biol. 2015 Apr;40:153-9. doi: 10.1016/j.semcdb.2015.03.008. Epub 2015 Mar 21. Review.

17.

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler RB, Múnera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole SE, Ruíz-Linares A.

Neurology. 2005 Feb 22;64(4):740-2.

PMID:
15728307
18.

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.

Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH.

Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14.

19.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
20.

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.

Sato R, Inui T, Endo W, Okubo Y, Takezawa Y, Anzai M, Morita H, Saitsu H, Matsumoto N, Haginoya K.

Brain Dev. 2016 Oct;38(9):852-6. doi: 10.1016/j.braindev.2016.04.007. Epub 2016 May 7.

PMID:
27165443

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