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Items: 1 to 20 of 35

1.

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.

Krabichler B, Rostasy K, Baumann M, Karall D, Scholl-Bürgi S, Schwarzer C, Gautsch K, Spreiz A, Kotzot D, Zschocke J, Fauth C, Haberlandt E.

Ann Hum Genet. 2012 Jul;76(4):326-31. doi: 10.1111/j.1469-1809.2012.00710.x. Epub 2012 May 21.

2.

Cullin-3 regulates late endosome maturation.

Huotari J, Meyer-Schaller N, Hubner M, Stauffer S, Katheder N, Horvath P, Mancini R, Helenius A, Peter M.

Proc Natl Acad Sci U S A. 2012 Jan 17;109(3):823-8. doi: 10.1073/pnas.1118744109. Epub 2012 Jan 4.

3.

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.

4.

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kousi M, Lehesjoki AE, Mole SE.

Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Review.

PMID:
21990111
5.

COP9 signalosome regulates autophagosome maturation.

Su H, Li F, Ranek MJ, Wei N, Wang X.

Circulation. 2011 Nov 8;124(19):2117-28. doi: 10.1161/CIRCULATIONAHA.111.048934. Epub 2011 Oct 10.

6.

The functional spectrum of low-frequency coding variation.

Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, DePristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R; 1000 Genomes Project.

Genome Biol. 2011 Sep 14;12(9):R84. doi: 10.1186/gb-2011-12-9-r84.

7.

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.

8.

Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

Azizieh R, Orduz D, Van Bogaert P, Bouschet T, Rodriguez W, Schiffmann SN, Pirson I, Abramowicz MJ.

Mol Neurobiol. 2011 Aug;44(1):111-21. doi: 10.1007/s12035-011-8194-0. Epub 2011 Jun 28.

PMID:
21710140
9.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF.

Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5.

10.

Distribution of the auxiliary GABAB receptor subunits KCTD8, 12, 12b, and 16 in the mouse brain.

Metz M, Gassmann M, Fakler B, Schaeren-Wiemers N, Bettler B.

J Comp Neurol. 2011 Jun 1;519(8):1435-54. doi: 10.1002/cne.22610.

PMID:
21452234
11.

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.

Cao Y, Staropoli JF, Biswas S, Espinola JA, MacDonald ME, Lee JM, Cotman SL.

PLoS One. 2011 Feb 17;6(2):e17118. doi: 10.1371/journal.pone.0017118.

12.

Molecular organization of the cullin E3 ligase adaptor KCTD11.

Correale S, Pirone L, Di Marcotullio L, De Smaele E, Greco A, Mazzà D, Moretti M, Alterio V, Vitagliano L, Di Gaetano S, Gulino A, Pedone EM.

Biochimie. 2011 Apr;93(4):715-24. doi: 10.1016/j.biochi.2010.12.014. Epub 2011 Jan 13.

PMID:
21237243
13.

Autophagy basics.

Tanida I.

Microbiol Immunol. 2011 Jan;55(1):1-11. doi: 10.1111/j.1348-0421.2010.00271.x. Review.

14.

The neuronal ceroid lipofuscinoses: the same, but different?

Cooper JD.

Biochem Soc Trans. 2010 Dec;38(6):1448-52. doi: 10.1042/BST0381448.

PMID:
21118105
15.

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA.

Genome Res. 2010 Sep;20(9):1297-303. doi: 10.1101/gr.107524.110. Epub 2010 Jul 19.

16.

Targeting autophagy in the brain: a promising approach?

Santos RX, Cardoso S, Correia S, Carvalho C, Santos MS, Moreira PI.

Cent Nerv Syst Agents Med Chem. 2010 Jun 1;10(2):158-68. Review.

PMID:
20518730
17.

Native GABA(B) receptors are heteromultimers with a family of auxiliary subunits.

Schwenk J, Metz M, Zolles G, Turecek R, Fritzius T, Bildl W, Tarusawa E, Kulik A, Unger A, Ivankova K, Seddik R, Tiao JY, Rajalu M, Trojanova J, Rohde V, Gassmann M, Schulte U, Fakler B, Bettler B.

Nature. 2010 May 13;465(7295):231-5. doi: 10.1038/nature08964. Epub 2010 Apr 18.

PMID:
20400944
18.

A method and server for predicting damaging missense mutations.

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR.

Nat Methods. 2010 Apr;7(4):248-9. doi: 10.1038/nmeth0410-248. No abstract available.

19.

Review: autophagy and neurodegeneration: survival at a cost?

Cherra SJ 3rd, Dagda RK, Chu CT.

Neuropathol Appl Neurobiol. 2010 Apr;36(2):125-32. doi: 10.1111/j.1365-2990.2010.01062.x. Epub 2010 Feb 19. Review.

20.

Fast and accurate short read alignment with Burrows-Wheeler transform.

Li H, Durbin R.

Bioinformatics. 2009 Jul 15;25(14):1754-60. doi: 10.1093/bioinformatics/btp324. Epub 2009 May 18.

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