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Items: 1 to 20 of 54

1.

Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T, Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Trigg SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K, Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE, Iakoucheva LM, Xia Y, Vidal M.

Cell. 2016 Feb 11;164(4):805-17. doi: 10.1016/j.cell.2016.01.029.

2.

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S.

Neurology. 2015 Jul 28;85(4):316-24. doi: 10.1212/WNL.0000000000001784. Epub 2015 Jun 26.

3.

Deregulation of subcellular biometal homeostasis through loss of the metal transporter, Zip7, in a childhood neurodegenerative disorder.

Grubman A, Lidgerwood GE, Duncan C, Bica L, Tan JL, Parker SJ, Caragounis A, Meyerowitz J, Volitakis I, Moujalled D, Liddell JR, Hickey JL, Horne M, Longmuir S, Koistinaho J, Donnelly PS, Crouch PJ, Tammen I, White AR, Kanninen KM.

Acta Neuropathol Commun. 2014 Feb 28;2:25. doi: 10.1186/2051-5960-2-25.

4.

The central role of EED in the orchestration of polycomb group complexes.

Cao Q, Wang X, Zhao M, Yang R, Malik R, Qiao Y, Poliakov A, Yocum AK, Li Y, Chen W, Cao X, Jiang X, Dahiya A, Harris C, Feng FY, Kalantry S, Qin ZS, Dhanasekaran SM, Chinnaiyan AM.

Nat Commun. 2014;5:3127. doi: 10.1038/ncomms4127.

5.

Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS.

Varjosalo M, Sacco R, Stukalov A, van Drogen A, Planyavsky M, Hauri S, Aebersold R, Bennett KL, Colinge J, Gstaiger M, Superti-Furga G.

Nat Methods. 2013 Apr;10(4):307-14. doi: 10.1038/nmeth.2400. Epub 2013 Mar 3.

PMID:
23455922
6.

Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.

GENDEP Investigators.; MARS Investigators.; STAR*D Investigators..

Am J Psychiatry. 2013 Feb;170(2):207-17. doi: 10.1176/appi.ajp.2012.12020237.

PMID:
23377640
7.

CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.

Bouhouche A, Regragui W, El Fahime E, Bouslam N, Tazi-Ahnini R, Melloul M, Benomar A, Yahyaoui M.

Indian J Pediatr. 2013 Aug;80(8):694-6. doi: 10.1007/s12098-012-0889-3. Epub 2012 Nov 22.

PMID:
23180398
8.

Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy.

Andrade DM, Paton T, Turnbull J, Marshall CR, Scherer SW, Minassian BA.

Pediatr Neurol. 2012 Sep;47(3):205-8. doi: 10.1016/j.pediatrneurol.2012.05.004.

PMID:
22883287
9.

Global landscape of HIV-human protein complexes.

Jäger S, Cimermancic P, Gulbahce N, Johnson JR, McGovern KE, Clarke SC, Shales M, Mercenne G, Pache L, Li K, Hernandez H, Jang GM, Roth SL, Akiva E, Marlett J, Stephens M, D'Orso I, Fernandes J, Fahey M, Mahon C, O'Donoghue AJ, Todorovic A, Morris JH, Maltby DA, Alber T, Cagney G, Bushman FD, Young JA, Chanda SK, Sundquist WI, Kortemme T, Hernandez RD, Craik CS, Burlingame A, Sali A, Frankel AD, Krogan NJ.

Nature. 2011 Dec 21;481(7381):365-70. doi: 10.1038/nature10719.

10.

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.

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.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Oct 10 [updated 2013 Aug 1].

13.

Dystonia Overview.

Klein C, Marras C, Münchau A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Oct 28 [updated 2014 May 1].

14.

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.

Kurze AK, Galliciotti G, Heine C, Mole SE, Quitsch A, Braulke T.

Hum Mutat. 2010 Feb;31(2):E1163-74. doi: 10.1002/humu.21184.

PMID:
20020536
15.

Defining the membrane proteome of NK cells.

Ghosh D, Lippert D, Krokhin O, Cortens JP, Wilkins JA.

J Mass Spectrom. 2010 Jan;45(1):1-25. doi: 10.1002/jms.1696.

PMID:
19946888
16.

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.

Lyly A, von Schantz C, Heine C, Schmiedt ML, Sipilä T, Jalanko A, Kyttälä A.

BMC Cell Biol. 2009 Nov 26;10:83. doi: 10.1186/1471-2121-10-83.

17.

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

Kielar C, Wishart TM, Palmer A, Dihanich S, Wong AM, Macauley SL, Chan CH, Sands MS, Pearce DA, Cooper JD, Gillingwater TH.

Hum Mol Genet. 2009 Nov 1;18(21):4066-80. doi: 10.1093/hmg/ddp355. Epub 2009 Jul 29.

18.

Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.

Al-Muhaizea MA, Al-Hassnan ZN, Chedrawi A.

Pediatr Neurol. 2009 Jul;41(1):74-6. doi: 10.1016/j.pediatrneurol.2009.01.012. Review.

PMID:
19520283
19.

Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2.

Benedict JW, Getty AL, Wishart TM, Gillingwater TH, Pearce DA.

J Neurosci Res. 2009 Jul;87(9):2157-66. doi: 10.1002/jnr.22032.

20.

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE.

Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5.

PMID:
19201763

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